Paul Harmatz, MD | Northern California Comprehensive Thalassemia Center

Long-term efficacy and safety of arimoclomol in Niemann-Pick disease type C: Final results of the phase 2/3 NPC-002 48-month open-label extension trial.

Molecular genetics and metabolism

Mengel E, Da Riol RM, Del Toro M, Deodato F, Gautschi M, Grunewald S, Grønborg SW, Harmatz P, Hennermann JB, Héron B, Maier EM, Santra S, Sharma R, Tylki-Szymanska A, Cording M, Himmelstrup L, Guenther S, Dali CÍ

Unmet needs of adults living with mucopolysaccharidosis II: data from the Hunter Outcome Survey.

Orphanet journal of rare diseases

Muenzer J, Amartino H, Giugliani R, Harmatz P, Lin SP, Link B, Molter D, Ramaswami U, Scarpa M, Botha J, Audi J, Burton BK

Efficacy results from a 12-month double-blind randomized trial of arimoclomol for treatment of Niemann-Pick disease type C (NPC): Presenting a rescored 4-domain NPC Clinical Severity Scale.

Molecular genetics and metabolism reports

Mengel E, Patterson MC, Da Riol RM, Del Toro M, Deodato F, Gautschi M, Grunewald S, Grønborg SW, Harmatz P, Hennermann JB, Héron B, Maier EM, Roubertie A, Santra S, Tylki-Szymanska A, LaGorio L, Berry-Kravis E, Porter FD, Solomon B, Himmelstrup L, Mickle T, Guenther S, Dali CÍ

Long-term enzyme replacement therapy: Findings from the mucopolysaccharidosis VI clinical surveillance program after 15 years follow-up.

Molecular genetics and metabolism

Burton BK, Harmatz PR, Horvathova V, Lail A, Lampe C, Parini R, Sharma R, Teles EL

Safety of anesthesia in mucopolysaccharidoses - A comparative retrospective cohort study on more than 600 cases.

Molecular genetics and metabolism

Moser S, Harmatz P, Rhoads W, Rowe R, Lagler FB

Prenatal Delivery of Enzyme Replacement Therapy to Fetuses Affected by Early-Onset Lysosomal Storage Diseases.

American journal of medical genetics. Part C, Seminars in medical genetics

Borges B, Canepa E, Chang IJ, Herzeg A, Lianoglou B, Kishnani PS, Harmatz P, MacKenzie TC, Cohen JL

Sustained growth-promoting effects of vosoritide in children with achondroplasia from an ongoing phase 3 extension study.

Med (New York, N.Y.)

Savarirayan R, Irving M, Wilcox WR, Bacino CA, Hoover-Fong JE, Harmatz P, Polgreen LE, Palm K, Prada CE, Kubota T, Arundel P, Kotani Y, Leiva-Gea A, Bober MB, Hecht JT, Legare JM, Lawrinson S, Low A, Sabir I, Huntsman-Labed A, Day JRS

Oral Infigratinib Therapy in Children with Achondroplasia.

The New England journal of medicine

Savarirayan R, De Bergua JM, Arundel P, Salles JP, Saraff V, Delgado B, Leiva-Gea A, McDevitt H, Nicolino M, Rossi M, Salcedo M, Cormier-Daire V, Skae M, Kannu P, Phillips J, Saal H, Harmatz P, Candler T, Hill D, Muslimova E, Weng R, Bai Y, Raj S, Hoover-Fong J, Irving M, Rogoff D

Persistent growth-promoting effects of vosoritide in children with achondroplasia are accompanied by improvements in physical and social aspects of health-related quality of life.

Genetics in medicine : official journal of the American College of Medical Genetics

Savarirayan R, Irving M, Wilcox WR, Bacino CA, Hoover-Fong JE, Harmatz P, Polgreen LE, Mohnike K, Prada CE, Kubota T, Arundel P, Leiva-Gea A, Rowell R, Low A, Sabir I, Huntsman-Labed A, Day J

Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase-IT on cognitive function in siblings with neuronopathic mucopolysaccharidosis II.

Journal of inherited metabolic disease

Muenzer J, Burton BK, Harmatz P, Gutiérrez-Solana LG, Ruiz-Garcia M, Jones SA, Guffon N, Inbar-Feigenberg M, Bratkovic D, Rust S, Hale M, Wu Y, Yee KS, Whiteman DAH, Alexanderian D

α-L-iduronidase fused with humanized anti-human transferrin receptor antibody (lepunafusp alfa) for mucopolysaccharidosis type I: A Phase 1/2 Trial.

Molecular therapy : the journal of the American Society of Gene Therapy

Harmatz P, Giugliani R, Martins AM, Hamazaki T, Kubo T, Kira R, Minami K, Ikeda T, Moriuchi H, Kawashima S, Takasao N, So S, Sonoda H, Hirato T, Tanizawa K, Schmidt M, Sato Y

Biomarkers of Glycosaminoglycans (GAG) accumulation in patients with mucopolysaccharidosis type VI-LeukoGAG, Corneal Opacification (COM) and Carotid Intima Media Thickening (CIMT).

Molecular genetics and metabolism reports

Sohn YB, Wang R, Ashworth J, Broqua P, Tallandier M, Abitbol JL, Jozwiak E, Pollard L, Wood TC, Aslam T, Harmatz PR

Vosoritide therapy in children with achondroplasia aged 3-59 months: a multinational, randomised, double-blind, placebo-controlled, phase 2 trial.

The Lancet. Child & adolescent health

Savarirayan R, Wilcox WR, Harmatz P, Phillips J, Polgreen LE, Tofts L, Ozono K, Arundel P, Irving M, Bacino CA, Basel D, Bober MB, Charrow J, Mochizuki H, Kotani Y, Saal HM, Army C, Jeha G, Qi Y, Han L, Fisheleva E, Huntsman-Labed A, Day J

Neurodevelopmental status and adaptive behavior of pediatric patients with mucopolysaccharidosis II: a longitudinal observational study.

Orphanet journal of rare diseases

Muenzer J, Burton BK, Amartino HM, Harmatz PR, Gutiérrez-Solana LG, Ruiz-Garcia M, Wu Y, Merberg D, Alexanderian D, Jones SA

Intrauterine enzyme replacement therapies for lysosomal storage disorders: Current developments and promising future prospects.

Prenatal diagnosis

Herzeg A, Borges B, Lianoglou BR, Gonzalez-Velez J, Canepa E, Munar D, Young SP, Bali D, Gelb MH, Chakraborty P, Kishnani PS, Harmatz P, Cohen JL, MacKenzie TC

Clinical characteristics and somatic burden of patients with mucopolysaccharidosis II with or without neurological involvement: An analysis from the Hunter Outcome Survey.

Molecular genetics and metabolism reports

Lau H, Harmatz P, Botha J, Audi J, Link B

Corrigendum to: Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study.

Molecular genetics and metabolism

Muenzer J, Burton BK, Harmatz P, Gutiérrez-Solana LG, Ruiz-Garcia M, Jones SA, Guffon N, Inbar-Feigenberg M, Bratkovic D, Hale M, Wu Y, Yee KS, Whiteman DAH, Alexanderian D, HGT-HIT-094 Study Group

Corrigendum to "Long-term open-label extension study of the safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II".

Molecular genetics and metabolism

Muenzer J, Burton BK, Harmatz P, Gutiérrez-Solana LG, Ruiz-Garcia M, Jones SA, Guffon N, Inbar-Feigenberg M, Bratkovic D, Hale M, Wu Y, Yee KS, Whiteman DAH, Alexanderian D, SHP609-302 study group

Growth patterns in patients with mucopolysaccharidosis VII.

Molecular genetics and metabolism reports

Montaño AM, Rózdzynska-Swiatkowska A, Jurecka A, Ramirez AN, Zhang L, Marsden D, Wang RY, Harmatz P

Persistent bone and joint disease despite current treatments for mucopolysaccharidosis types I, II, and VI: data from a 10-year prospective study.

Journal of inherited metabolic disease

Miller BS, Fung EB, White KK, Lund TC, Harmatz P, Orchard PJ, Whitley CB, Polgreen LE

A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B.

The Journal of clinical investigation

Muschol N, Koehn A, von Cossel K, Okur I, Ezgu F, Harmatz P, de Castro Lopez MJ, Couce ML, Lin SP, Batzios S, Cleary M, Solano M, Nestrasil I, Kaufman B, Shaywitz AJ, Maricich SM, Kuca B, Kovalchin J, Zanelli E

In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease.

The New England journal of medicine

Cohen JL, Chakraborty P, Fung-Kee-Fung K, Schwab ME, Bali D, Young SP, Gelb MH, Khaledi H, DiBattista A, Smallshaw S, Moretti F, Wong D, Lacroix C, El Demellawy D, Strickland KC, Lougheed J, Moon-Grady A, Lianoglou BR, Harmatz P, Kishnani PS, MacKenzie TC

Current and new therapies for mucopolysaccharidoses.

Pediatrics and neonatology

Penon-Portmann M, Blair DR, Harmatz P

First-in-human in�vivo genome editing via AAV-zinc-finger nucleases for mucopolysaccharidosis I/II and hemophilia B.

Molecular therapy : the journal of the American Society of Gene Therapy

Harmatz P, Prada CE, Burton BK, Lau H, Kessler CM, Cao L, Falaleeva M, Villegas AG, Zeitler J, Meyer K, Miller W, Wong Po Foo C, Vaidya S, Swenson W, Shiue LH, Rouy D, Muenzer J

Growth parameters in children with achondroplasia: A�7-year, prospective, multinational, observational study.

Genetics in medicine : official journal of the American College of Medical Genetics

Savarirayan R, Irving M, Harmatz P, Delgado B, Wilcox WR, Philips J, Owen N, Bacino CA, Tofts L, Charrow J, Polgreen LE, Hoover-Fong J, Arundel P, Ginebreda I, Saal HM, Basel D, Font RU, Ozono K, Bober MB, Cormier-Daire V, Le Quan Sang KH, Baujat G, Alanay Y, Rutsch F, Hoernschemeyer D, Mohnike K, Mochizuki H, Tajima A, Kotani Y, Weaver DD, White KK, Army C, Larrimore K, Gregg K, Jeha G, Milligan C, Fisheleva E, Huntsman-Labed A, Day J

Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study.

Molecular genetics and metabolism

Muenzer J, Burton BK, Harmatz P, Guti?rrez-Solana LG, Ruiz-Garcia M, Jones SA, Guffon N, Inbar-Feigenberg M, Bratkovic D, Hale M, Wu Y, Yee KS, Whiteman DAH, Alexanderian D, HGT-HIT-094 Study Group

Long-term open-label extension study of the safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II.

Molecular genetics and metabolism

Muenzer J, Burton BK, Harmatz P, Guti?rrez-Solana LG, Ruiz-Garcia M, Jones SA, Guffon N, Inbar-Feigenberg M, Bratkovic D, Hale M, Wu Y, Yee KS, Whiteman DAH, Alexanderian D, SHP609-302 study group

Chemically modified recombinant human sulfamidase (SOBI003) in mucopolysaccharidosis IIIA patients: Results from an open, non-controlled, multicenter study.

Molecular genetics and metabolism

Harmatz P, Muenzer J, Ezgü F, Dalén P, Huledal G, Lindqvist D, Gelius SS, Wikén M, Önnestam K, Bröijersén A

Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB.

The Journal of pediatrics

Okur I, Ezgu F, Giugliani R, Muschol N, Koehn A, Amartino H, Harmatz P, de Castro Lopez MJ, Couce ML, Lin SP, Batzios S, Cleary M, Solano M, Peters H, Lee J, Nestrasil I, Shaywitz AJ, Maricich SM, Kuca B, Kovalchin J, Zanelli E

RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A.

Molecular genetics and metabolism reports

Sohn YB, Rogers C, Stallworth J, Cooley Coleman JA, Buch L, Jozwiak E, Johnson JA, Wood T, Harmatz P, Pollard L, Louie RJ

Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies.

Therapeutic advances in musculoskeletal disease

Savarirayan R, De Bergua JM, Arundel P, McDevitt H, Cormier-Daire V, Saraff V, Skae M, Delgado B, Leiva-Gea A, Santos-Simarro F, Salles JP, Nicolino M, Rossi M, Kannu P, Bober MB, Phillips J, Saal H, Harmatz P, Burren C, Gotway G, Cho T, Muslimova E, Weng R, Rogoff D, Hoover-Fong J, Irving M

Timing is everything: Clinical courses of Hunter syndrome associated with age at initiation of therapy in a sibling pair.

Molecular genetics and metabolism reports

Grant N, Sohn YB, Ellinwood NM, Okenfuss E, Mendelsohn BA, Lynch LE, Braunlin EA, Harmatz PR, Eisengart JB

Fetal therapies and trials for lysosomal storage diseases: a survey of attitudes of parents and patients.

Orphanet journal of rare diseases

Schwab ME, Brown JEH, Lianoglou B, Jin C, Conroy PC, Gallagher RC, Harmatz P, MacKenzie TC

Quantitative brain MRI morphology in severe and attenuated forms of mucopolysaccharidosis type I.

Molecular genetics and metabolism

Kovac V, Shapiro EG, Rudser KD, Mueller BA, Eisengart JB, Delaney KA, Ahmed A, King KE, Yund BD, Cowan MJ, Raiman J, Mamak EG, Harmatz PR, Shankar SP, Ali N, Cagle SR, Wozniak JR, Lim KO, Orchard PJ, Whitley CB, Nestrasil I

Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): defining and measuring functional impacts in pediatric patients.

Orphanet journal of rare diseases

Leiro B, Phillips D, Duiker M, Harmatz P, Charles S

Evaluation of the long-term treatment effects of intravenous idursulfase in patients with mucopolysaccharidosis II (MPS II) using statistical modeling: data from the Hunter Outcome Survey (HOS).

Orphanet journal of rare diseases

Muenzer J, Botha J, Harmatz P, Giugliani R, Kampmann C, Burton BK

Efficacy and safety of arimoclomol in Niemann-Pick disease type C: Results from a double-blind, randomised, placebo-controlled, multinational phase 2/3 trial of a novel treatment.

Journal of inherited metabolic disease

Mengel E, Patterson MC, Da Riol RM, Del Toro M, Deodato F, Gautschi M, Grunewald S, Gr?nborg S, Harmatz P, H?ron B, Maier EM, Roubertie A, Santra S, Tylki-Szymanska A, Day S, Andreasen AK, Geist MA, Havns?e Torp Petersen N, Ingemann L, Hansen T, Blaettler T, Kirkegaard T, ? Dali C

Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study.

Genetics in medicine : official journal of the American College of Medical Genetics

Savarirayan R, Tofts L, Irving M, Wilcox WR, Bacino CA, Hoover-Fong J, Font RU, Harmatz P, Rutsch F, Bober MB, Polgreen LE, Ginebreda I, Mohnike K, Charrow J, Hoernschemeyer D, Ozono K, Alanay Y, Arundel P, Kotani Y, Yasui N, White KK, Saal HM, Leiva-Gea A, Luna-Gonz?lez F, Mochizuki H, Basel D, Porco DM, Jayaram K, Fisheleva E, Huntsman-Labed A, Day JRS

Long-term outcomes of patients with mucopolysaccharidosis VI treated with galsulfase enzyme replacement therapy since infancy.

Molecular genetics and metabolism

Garcia P, Phillips D, Johnson J, Martin K, Randolph LM, Rosenfeld H, Harmatz P

Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial.

Lancet (London, England)

Savarirayan R, Tofts L, Irving M, Wilcox W, Bacino CA, Hoover-Fong J, Ullot Font R, Harmatz P, Rutsch F, Bober MB, Polgreen LE, Ginebreda I, Mohnike K, Charrow J, Hoernschemeyer D, Ozono K, Alanay Y, Arundel P, Kagami S, Yasui N, White KK, Saal HM, Leiva-Gea A, Luna-Gonz?lez F, Mochizuki H, Basel D, Porco DM, Jayaram K, Fisheleva E, Huntsman-Labed A, Day J

Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints.

Molecular genetics and metabolism

van der Lee JH, Morton J, Adams HR, Clarke L, Eisengart JB, Escolar ML, Giugliani R, Harmatz P, Hogan M, Kearney S, Muenzer J, Muschol N, Rust S, Saville BR, Semrud-Clikeman M, Wang R, Shapiro E

Corrigendum to "The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII" [Mol Genet Metab 2020 Mar;129(3):219-227].

Molecular genetics and metabolism

Wang RY, da Silva Franco JF, L?pez-Valdez J, Martins E, Sutton VR, Whitley CB, Zhang L, Cimms T, Marsden D, Jurecka A, Harmatz P

ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy.

Human mutation

Elsea SH, Solyom A, Martin K, Harmatz P, Mitchell J, Lampe C, Grant C, Selim L, Mungan NO, Guelbert N, Magnusson B, Sundberg E, Puri R, Kapoor S, Arslan N, DiRocco M, Zaki M, Ozen S, Mahmoud IG, Ehlert K, Hahn A, Gokcay G, Torcoletti M, Ferreira CR

Assessing the impact of the five senses on quality of life in mucopolysaccharidoses.

Orphanet journal of rare diseases

Giugliani R, Harmatz P, Lin SP, Scarpa M

The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII.

Molecular genetics and metabolism

Wang RY, da Silva Franco JF, L?pez-Valdez J, Martins E, Sutton VR, Whitley CB, Zhang L, Cimms T, Marsden D, Jurecka A, Harmatz P

Intrathecal enzyme replacement for cognitive decline in mucopolysaccharidosis type I, a randomized, open-label, controlled pilot study.

Molecular genetics and metabolism

Chen AH, Harmatz P, Nestrasil I, Eisengart JB, King KE, Rudser K, Kaizer AM, Svatkova A, Wakumoto A, Le SQ, Madden J, Young S, Zhang H, Polgreen LE, Dickson PI

Enzyme replacement therapy initiated in adulthood: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program.

Molecular genetics and metabolism

Lampe C, Harmatz PR, Parini R, Sharma R, Teles EL, Johnson J, Sivam D, Sisic Z

Efficacy and Safety of Asfotase Alfa in Infants and Young Children With Hypophosphatasia: A Phase 2 Open-Label Study.

The Journal of clinical endocrinology and metabolism

Hofmann CE, Harmatz P, Vockley J, H?gler W, Nakayama H, Bishop N, Martos-Moreno G?, Moseley S, Fujita KP, Liese J, Rockman-Greenberg C, ENB-010-10 Study Group

Individual heat map assessments demonstrate vestronidase alfa treatment response in a highly heterogeneous mucopolysaccharidosis VII study population.

JIMD reports

Haller C, Song W, Cimms T, Chen CY, Whitley CB, Wang RY, Bauer M, Harmatz P

C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia.

The New England journal of medicine

Savarirayan R, Irving M, Bacino CA, Bostwick B, Charrow J, Cormier-Daire V, Le Quan Sang KH, Dickson P, Harmatz P, Phillips J, Owen N, Cherukuri A, Jayaram K, Jeha GS, Larimore K, Chan ML, Huntsman Labed A, Day J, Hoover-Fong J

Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance.

Orphanet journal of rare diseases

Akyol MU, Alden TD, Amartino H, Ashworth J, Belani K, Berger KI, Borgo A, Braunlin E, Eto Y, Gold JI, Jester A, Jones SA, Karsli C, Mackenzie W, Marinho DR, McFadyen A, McGill J, Mitchell JJ, Muenzer J, Okuyama T, Orchard PJ, Stevens B, Thomas S, Walker R, Wynn R, Giugliani R, Harmatz P, Hendriksz C, Scarpa M, MPS Consensus Programme Steering Committee, MPS Consensus Programme Co-Chairs

Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance.

Orphanet journal of rare diseases

Akyol MU, Alden TD, Amartino H, Ashworth J, Belani K, Berger KI, Borgo A, Braunlin E, Eto Y, Gold JI, Jester A, Jones SA, Karsli C, Mackenzie W, Marinho DR, McFadyen A, McGill J, Mitchell JJ, Muenzer J, Okuyama T, Orchard PJ, Stevens B, Thomas S, Walker R, Wynn R, Giugliani R, Harmatz P, Hendriksz C, Scarpa M, MPS Consensus Programme Steering Committee, MPS Consensus Programme Co-Chairs

Attention and corpus callosum volumes in individuals with mucopolysaccharidosis type I.

Neurology

King KE, Rudser KD, Nestrasil I, Kovac V, Delaney KA, Wozniak JR, Mueller BA, Lim KO, Eisengart JB, Mamak EG, Raiman J, Ali N, Cagle S, Harmatz P, Whitley CB, Shapiro EG

Enzyme replacement therapy outcomes across the disease spectrum: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program.

Journal of inherited metabolic disease

Harmatz PR, Lampe C, Parini R, Sharma R, Teles EL, Johnson J, Sivam D, Sisic Z

Spinal cord issues in adult patients with MPS: transition of care survey.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery

Ghotme KA, Alvarado-Gomez F, Lampe C, White KK, Solano-Villareal M, Giugliani R, Harmatz PR

Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis.

Journal of inherited metabolic disease

Lund AM, Borgwardt L, Cattaneo F, Ardig? D, Geraci S, Gil-Campos M, De Meirleir L, Laroche C, Dolhem P, Cole D, Tylki-Szymanska A, Lopez-Rodriguez M, Guill?n-Navarro E, Dali CI, H?ron B, Fogh J, Muschol N, Phillips D, Van den Hout JMH, Jones SA, Amraoui Y, Harmatz P, Guffon N

Enzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase): Novel global treatment response model and outcomes in patients with alpha-mannosidosis.

Molecular genetics and metabolism

Harmatz P, Cattaneo F, Ardig? D, Geraci S, Hennermann JB, Guffon N, Lund A, Hendriksz CJ, Borgwardt L

Observational Prospective Natural History of Patients with Sanfilippo Syndrome Type B.

The Journal of pediatrics

Whitley CB, Cleary M, Eugen Mengel K, Harmatz P, Shapiro E, Nestrasil I, Haslett P, Whiteman D, Alexanderian D

Risks of long-term port use in enzyme replacement therapy for lysosomal storage disorders.

Molecular genetics and metabolism reports

Hendriksz CJ, Harmatz P, Giugliani R, Roberts J, Arul GS

A novel Blind Start study design to investigate vestronidase alfa for mucopolysaccharidosis VII, an ultra-rare genetic disease.

Molecular genetics and metabolism

Harmatz P, Whitley CB, Wang RY, Bauer M, Song W, Haller C, Kakkis E

Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS).

American journal of medical genetics. Part A

Ficicioglu C, Giugliani R, Harmatz P, Mendelsohn NJ, Jego V, Parini R

Impact of long-term elosulfase alfa on activities of daily living in patients with Morquio A syndrome in an open-label, multi-center, phase 3 extension study.

Molecular genetics and metabolism

Hendriksz CJ, Parini R, AlSayed MD, Raiman J, Giugliani R, Mitchell JJ, Burton BK, Guelbert N, Stewart FJ, Hughes DA, Matousek R, Hawley SM, Decker C, Harmatz PR

Cardiopulmonary Exercise Testing Reflects Improved Exercise Capacity in Response to Treatment in Morquio A Patients: Results of a 52-Week Pilot Study of Two Different Doses of Elosulfase Alfa.

JIMD reports

Berger KI, Burton BK, Lewis GD, Tarnopolsky M, Harmatz PR, Mitchell JJ, Muschol N, Jones SA, Sutton VR, Pastores GM, Lau H, Sparkes R, Shaywitz AJ

Surgical management of neurological manifestations of mucopolysaccharidosis disorders.

Molecular genetics and metabolism

Alden TD, Amartino H, Dalla Corte A, Lampe C, Harmatz PR, Vedolin L

Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa.

Molecular genetics and metabolism

Kishnani PS, Rush ET, Arundel P, Bishop N, Dahir K, Fraser W, Harmatz P, Linglart A, Munns CF, Nunes ME, Saal HM, Seefried L, Ozono K

Cognitive endpoints for therapy development for neuronopathic mucopolysaccharidoses: Results of a consensus procedure.

Molecular genetics and metabolism

van der Lee JH, Morton J, Adams HR, Clarke L, Ebbink BJ, Escolar ML, Giugliani R, Harmatz P, Hogan M, Jones S, Kearney S, Muenzer J, Rust S, Semrud-Clikeman M, Wijburg FA, Yu ZF, Janzen D, Shapiro E

Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry.

Orphanet journal of rare diseases

Muenzer J, Jones SA, Tylki-Szymanska A, Harmatz P, Mendelsohn NJ, Guffon N, Giugliani R, Burton BK, Scarpa M, Beck M, Jangelind Y, Hernberg-Stahl E, Larsen MP, Pulles T, Whiteman DAH

The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).

Molecular genetics and metabolism

Harmatz P, Hendriksz CJ, Lampe C, McGill JJ, Parini R, Le?o-Teles E, Valayannopoulos V, Cole TJ, Matousek R, Graham S, Guffon N, Quartel A, MPS VI Study Group

Evaluation of impact of anti-idursulfase antibodies during long-term idursulfase enzyme replacement therapy in mucopolysaccharidosis II patients.

Molecular genetics and metabolism reports

Giugliani R, Harmatz P, Jones SA, Mendelsohn NJ, Vellodi A, Qiu Y, Hendriksz CJ, Vijayaraghavan S, Whiteman DA, Pano A

Mucopolysaccharidosis VI: pathophysiology, diagnosis and treatment.

Frontiers in bioscience (Landmark edition)

Harmatz P, Shediac R

Long-term Immunogenicity of Elosulfase Alfa in the Treatment of Morquio A Syndrome: Results From MOR-005, a Phase III Extension Study.

Clinical therapeutics

Long B, Tompkins T, Decker C, Jesaitis L, Khan S, Slasor P, Harmatz P, O'Neill CA, Schweighardt B

Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open-label, phase 2 study.

American journal of medical genetics. Part A

Harmatz PR, Mengel E, Geberhiwot T, Muschol N, Hendriksz CJ, Burton BK, Jameson E, Berger KI, Jester A, Treadwell M, Sisic Z, Decker C

Pregnancy in patients with mucopolysaccharidosis: a case series.

Molecular genetics and metabolism reports

Stewart FJ, Bentley A, Burton BK, Guffon N, Hale SL, Harmatz PR, Kircher SG, Kochhar PK, Mitchell JJ, Pl?ckinger U, Graham S, Sande S, Sisic Z, Johnston TA

Impact of long-term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome.

Journal of inherited metabolic disease

Hendriksz CJ, Berger KI, Parini R, AlSayed MD, Raiman J, Giugliani R, Mitchell JJ, Burton BK, Guelbert N, Stewart F, Hughes DA, Matousek R, Jurecki E, Decker C, Harmatz PR

Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome.

Molecular genetics and metabolism

Hendriksz CJ, Parini R, AlSayed MD, Raiman J, Giugliani R, Solano Villarreal ML, Mitchell JJ, Burton BK, Guelbert N, Stewart F, Hughes DA, Berger KI, Slasor P, Matousek R, Jurecki E, Shaywitz AJ, Harmatz PR

Cervical cord compression in mucopolysaccharidosis VI (MPS VI): Findings from the MPS VI Clinical Surveillance Program (CSP).

Molecular genetics and metabolism

Solanki GA, Sun PP, Martin KW, Hendriksz CJ, Lampe C, Guffon N, Hung A, Sisic Z, Shediac R, Harmatz PR, CSP Study Group

The natural history of growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS).

Molecular genetics and metabolism

Parini R, Jones SA, Harmatz PR, Giugliani R, Mendelsohn NJ

Implementing evidence-driven individualized treatment plans within Morquio A Syndrome.

Molecular genetics and metabolism

Clarke LA, Harmatz P, Fong EW

Safety and clinical activity of elosulfase alfa in pediatric patients with Morquio A syndrome (mucopolysaccharidosis IVA) less than 5 y.

Pediatric research

Jones SA, Bialer M, Parini R, Martin K, Wang H, Yang K, Shaywitz AJ, Harmatz P

Data from subjects receiving intrathecal laronidase for cervical spinal stenosis due to mucopolysaccharidosis type I.

Data in brief

Dickson PI, Kaitila I, Harmatz P, Mlikotic A, Chen AH, Victoroff A, Passage MB, Madden J, Le SQ, Naylor DE, Mucopolysaccharidosis I Intrathecal Research Collaborative

Enzyme Replacement Therapies and Immunogenicity in Lysosomal Storage Diseases: Is There a Pattern?

Clinical therapeutics

Harmatz P

Safety of laronidase delivered into the spinal canal for treatment of cervical stenosis in mucopolysaccharidosis I.

Molecular genetics and metabolism

Dickson PI, Kaitila I, Harmatz P, Mlikotic A, Chen AH, Victoroff A, Passage MB, Madden J, Le SQ, Naylor DE, Mucopolysaccharidosis I Intrathecal Research Collaborative

Neurocognition across the spectrum of mucopolysaccharidosis type I: Age, severity, and treatment.

Molecular genetics and metabolism

Shapiro EG, Nestrasil I, Rudser K, Delaney K, Kovac V, Ahmed A, Yund B, Orchard PJ, Eisengart J, Niklason GR, Raiman J, Mamak E, Cowan MJ, Bailey-Olson M, Harmatz P, Shankar SP, Cagle S, Ali N, Steiner RD, Wozniak J, Lim KO, Whitley CB

Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double-blind, pilot study.

American journal of medical genetics. Part A

Burton BK, Berger KI, Lewis GD, Tarnopolsky M, Treadwell M, Mitchell JJ, Muschol N, Jones SA, Sutton VR, Pastores GM, Lau H, Sparkes R, Genter F, Shaywitz AJ, Harmatz P

Long-term velaglucerase alfa treatment in children with Gaucher disease type 1 na�ve to enzyme replacement therapy or previously treated with imiglucerase.

Molecular genetics and metabolism

Smith L, Rhead W, Charrow J, Shankar SP, Bavdekar A, Longo N, Mardach R, Harmatz P, Hangartner T, Lee HM, Crombez E, Pastores GM

Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome).

JIMD reports

Quartel A, Hendriksz CJ, Parini R, Graham S, Lin P, Harmatz P

Cognitive, medical, and neuroimaging characteristics of attenuated mucopolysaccharidosis type II.

Molecular genetics and metabolism

Yund B, Rudser K, Ahmed A, Kovac V, Nestrasil I, Raiman J, Mamak E, Harmatz P, Steiner R, Lau H, Vekaria P, Wozniak JR, Lim KO, Delaney K, Whitley C, Shapiro EG

Pulmonary hypertension in well-transfused thalassemia major patients.

Blood cells, molecules & diseases

Meloni A, Detterich J, Pepe A, Harmatz P, Coates TD, Wood JC

Longitudinal analysis of endurance and respiratory function from a natural history study of Morquio A syndrome.

Molecular genetics and metabolism

Harmatz PR, Mengel KE, Giugliani R, Valayannopoulos V, Lin SP, Parini R, Guffon N, Burton BK, Hendriksz CJ, Mitchell JJ, Martins AM, Jones SA, Guelbert N, Vellodi A, Wijburg FA, Yang K, Slasor P, Decker C

International guidelines for the management and treatment of Morquio A syndrome.

American journal of medical genetics. Part A

Hendriksz CJ, Berger KI, Giugliani R, Harmatz P, Kampmann C, Mackenzie WG, Raiman J, Villarreal MS, Savarirayan R

Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific database.

Human mutation

Morrone A, Caciotti A, Atwood R, Davidson K, Du C, Francis-Lyon P, Harmatz P, Mealiffe M, Mooney S, Oron TR, Ryles A, Zawadzki KA, Miller N

Mechanisms of plasma non-transferrin bound iron generation: insights from comparing transfused diamond blackfan anaemia with sickle cell and thalassaemia patients.

British journal of haematology

Porter JB, Walter PB, Neumayr LD, Evans P, Bansal S, Garbowski M, Weyhmiller MG, Harmatz PR, Wood JC, Miller JL, Byrnes C, Weiss G, Seifert M, Grosse R, Grabowski D, Schmidt A, Fischer R, Nielsen P, Niemeyer C, Vichinsky E

Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial.

Molecular genetics and metabolism

Hendriksz CJ, Giugliani R, Harmatz P, Mengel E, Guffon N, Valayannopoulos V, Parini R, Hughes D, Pastores GM, Lau HA, Al-Sayed MD, Raiman J, STRIVE Investigators, Yang K, Mealiffe M, Haller C

Orthopedic management of the extremities in patients with Morquio A syndrome.

Journal of children's orthopaedics

White KK, Jester A, Bache CE, Harmatz PR, Shediac R, Thacker MM, Mackenzie WG

Quantification of prenatal liver and spleen iron in a sheep model and assessment of iron stores in a human neonate with neonatal hemochromatosis using R2* mapping.

Magnetic resonance in medical sciences : MRMS : an official journal of Japan Society of Magnetic Resonance in Medicine

Schoennagel BP, Remus CC, Wedegaertner U, Salzmann I, Grabhorn E, Adam G, Fischer R, Harmatz P, Kooijman H, Yamamura J

Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study.

Journal of inherited metabolic disease

Hendriksz CJ, Burton B, Fleming TR, Harmatz P, Hughes D, Jones SA, Lin SP, Mengel E, Scarpa M, Valayannopoulos V, Giugliani R, STRIVE Investigators, Slasor P, Lounsbury D, Dummer W

Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome)--10-year follow-up of patients who previously participated in an MPS VI Survey Study.

American journal of medical genetics. Part A

Giugliani R, Lampe C, Guffon N, Ketteridge D, Le?o-Teles E, Wraith JE, Jones SA, Piscia-Nichols C, Lin P, Quartel A, Harmatz P

Galsulfase (Naglazyme�) therapy in infants with mucopolysaccharidosis VI.

Journal of inherited metabolic disease

Harmatz PR, Garcia P, Guffon N, Randolph LM, Shediac R, Braunlin E, Lachman RS, Decker C

Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure.

Orphanet journal of rare diseases

Langereis EJ, Borgo A, Crushell E, Harmatz PR, van Hasselt PM, Jones SA, Kelly PM, Lampe C, van der Lee JH, Odent T, Sakkers R, Scarpa M, Schafroth MU, Struijs PA, Valayannopoulos V, White KK, Wijburg FA

Immune response to intrathecal enzyme replacement therapy in mucopolysaccharidosis I patients.

Pediatric research

Vera M, Le S, Kan SH, Garban H, Naylor D, Mlikotic A, Kaitila I, Harmatz P, Chen A, Dickson P

Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile pompe disease: a step towards improving the efficacy of ERT.

PloS one

Banugaria SG, Prater SN, Patel TT, Dearmey SM, Milleson C, Sheets KB, Bali DS, Rehder CW, Raiman JA, Wang RA, Labarthe F, Charrow J, Harmatz P, Chakraborty P, Rosenberg AS, Kishnani PS

Development of a Scoring System to Evaluate the Severity of Craniocervical Spinal Cord Compression in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome).

JIMD reports

M?llmann C, Lampe CG, M?ller-Forell W, Scarpa M, Harmatz P, Schwarz M, Beck M, Lampe C

Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA.

Molecular genetics and metabolism

Hendriksz CJ, Harmatz P, Beck M, Jones S, Wood T, Lachman R, Gravance CG, Orii T, Tomatsu S

The effect of idursulfase on growth in patients with Hunter syndrome: data from the Hunter Outcome Survey (HOS).

Molecular genetics and metabolism

Jones SA, Parini R, Harmatz P, Giugliani R, Fang J, Mendelsohn NJ, HOS Natural History Working Group on behalf of HOS Investigators

Craniocervical decompression in patients with mucopolysaccharidosis VI: development of a scoring system to determine indication and outcome of surgery.

Journal of inherited metabolic disease

Lampe C, Lampe C, Schwarz M, M?ller-Forell W, Harmatz P, Mengel E

The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects.

Molecular genetics and metabolism

Harmatz P, Mengel KE, Giugliani R, Valayannopoulos V, Lin SP, Parini R, Guffon N, Burton BK, Hendriksz CJ, Mitchell J, Martins A, Jones S, Guelbert N, Vellodi A, Hollak C, Slasor P, Decker C

Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management.

Journal of inherited metabolic disease

Solanki GA, Martin KW, Theroux MC, Lampe C, White KK, Shediac R, Lampe CG, Beck M, Mackenzie WG, Hendriksz CJ, Harmatz PR

Diagnosing mucopolysaccharidosis IVA.

Journal of inherited metabolic disease

Wood TC, Harvey K, Beck M, Burin MG, Chien YH, Church HJ, D'Almeida V, van Diggelen OP, Fietz M, Giugliani R, Harmatz P, Hawley SM, Hwu WL, Ketteridge D, Lukacs Z, Miller N, Pasquali M, Schenone A, Thompson JN, Tylee K, Yu C, Hendriksz CJ

Exercise performance in thalassemia major: correlation with cardiac iron burden.

American journal of hematology

Sohn EY, Kato R, Noetzli LJ, Gera A, Coates T, Harmatz P, Keens TG, Wood JC

Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase.

American journal of hematology

Zimran A, Pastores GM, Tylki-Szymanska A, Hughes DA, Elstein D, Mardach R, Eng C, Smith L, Heisel-Kurth M, Charrow J, Harmatz P, Fernhoff P, Rhead W, Longo N, Giraldo P, Ruiz JA, Zahrieh D, Crombez E, Grabowski GA

Increased leucocyte apoptosis in transfused �-thalassaemia patients.

British journal of haematology

Walter PB, Porter J, Evans P, Kwiatkowski JL, Neufeld EJ, Coates T, Giardina PJ, Grady RW, Vichinsky E, Olivieri N, Trachtenberg F, Alberti D, Fung E, Ames B, Higa A, Harmatz P, Thalassemia Clinical Research Network

Anaesthesia and airway management in mucopolysaccharidosis.

Journal of inherited metabolic disease

Walker R, Belani KG, Braunlin EA, Bruce IA, Hack H, Harmatz PR, Jones S, Rowe R, Solanki GA, Valdemarsson B

Combined chelation therapy with deferasirox and deferoxamine in thalassemia.

Blood cells, molecules & diseases

Lal A, Porter J, Sweeters N, Ng V, Evans P, Neumayr L, Kurio G, Harmatz P, Vichinsky E

A multinational, multidisciplinary consensus for the diagnosis and management of spinal cord compression among patients with mucopolysaccharidosis VI.

Molecular genetics and metabolism

Solanki GA, Alden TD, Burton BK, Giugliani R, Horovitz DD, Jones SA, Lampe C, Martin KW, Ryan ME, Schaefer MK, Siddiqui A, White KK, Harmatz P

Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme�) therapy.

Journal of inherited metabolic disease

Braunlin E, Rosenfeld H, Kampmann C, Johnson J, Beck M, Giugliani R, Guffon N, Ketteridge D, S? Miranda CM, Scarpa M, Schwartz IV, Le?o Teles E, Wraith JE, Barrios P, Dias da Silva E, Kurio G, Richardson M, Gildengorin G, Hopwood JJ, Imperiale M, Schatz A, Decker C, Harmatz P, MPS VI Study Group

Expert recommendations for the laboratory diagnosis of MPS VI.

Molecular genetics and metabolism

Wood T, Bodamer OA, Burin MG, D'Almeida V, Fietz M, Giugliani R, Hawley SM, Hendriksz CJ, Hwu WL, Ketteridge D, Lukacs Z, Mendelsohn NJ, Miller N, Pasquali M, Schenone A, Schoonderwoerd K, Winchester B, Harmatz P

A phase 2 study of the safety, tolerability, and pharmacodynamics of FBS0701, a novel oral iron chelator, in transfusional iron overload.

Blood

Neufeld EJ, Galanello R, Viprakasit V, Aydinok Y, Piga A, Harmatz P, Forni GL, Shah FT, Grace RF, Porter JB, Wood JC, Peppe J, Jones A, Rienhoff HY

Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP).

Journal of inherited metabolic disease

Hendriksz CJ, Giugliani R, Harmatz P, Lampe C, Martins AM, Pastores GM, Steiner RD, Le?o Teles E, Valayannopoulos V, CSP Study Group

Electrocardiographic consequences of cardiac iron overload in thalassemia major.

American journal of hematology

Detterich J, Noetzli L, Dorey F, Bar-Cohen Y, Harmatz P, Coates T, Wood J

The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensus.

European journal of pediatrics

Muenzer J, Bodamer O, Burton B, Clarke L, Frenking GS, Giugliani R, Jones S, Rojas MV, Scarpa M, Beck M, Harmatz P

Iron chelation therapy in thalassemia major: a systematic review with meta-analyses of 1520 patients included on randomized clinical trials.

Blood cells, molecules & diseases

Maggio A, Filosa A, Vitrano A, Aloj G, Kattamis A, Ceci A, Fucharoen S, Cianciulli P, Grady RW, Prossomariti L, Porter JB, Iacono A, Cappellini MD, Bonifazi F, Cassar? F, Harmatz P, Wood J, Gluud C

Pulmonary function in thalassaemia major and its correlation with body iron stores.

British journal of haematology

Sohn EY, Noetzli LJ, Gera A, Kato R, Coates TD, Harmatz P, Keens TG, Wood JC

Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management.

Journal of inherited metabolic disease

Braunlin EA, Harmatz PR, Scarpa M, Furlanetto B, Kampmann C, Loehr JP, Ponder KP, Roberts WC, Rosenfeld HM, Giugliani R

Relationship between labile plasma iron, liver iron concentration and cardiac response in a deferasirox monotherapy trial.

Haematologica

Wood JC, Glynos T, Thompson A, Giardina P, Harmatz P, Kang BP, Paley C, Coates TD

Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics

Muenzer J, Beck M, Eng CM, Giugliani R, Harmatz P, Martin R, Ramaswami U, Vellodi A, Wraith JE, Cleary M, Gucsavas-Calikoglu M, Puga AC, Shinawi M, Ulbrich B, Vijayaraghavan S, Wendt S, Conway AM, Rossi A, Whiteman DA, Kimura A

A phase 1 dose-escalation study: safety, tolerability, and pharmacokinetics of FBS0701, a novel oral iron chelator for the treatment of transfusional iron overload.

Haematologica

Rienhoff HY, Viprakasit V, Tay L, Harmatz P, Vichinsky E, Chirnomas D, Kwiatkowski JL, Tapper A, Kramer W, Porter JB, Neufeld EJ

Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey.

Genetics in medicine : official journal of the American College of Medical Genetics

Mendelsohn NJ, Harmatz P, Bodamer O, Burton BK, Giugliani R, Jones SA, Lampe C, Malm G, Steiner RD, Parini R, Hunter Outcome Survey Investigators

Follow-up report on the 2-year cardiac data from a deferasirox monotherapy trial.

American journal of hematology

Wood JC, Glynos T, Thompson A, Giardina P, Harmatz P, Kang BP, Paley C, Coates TD

Diagnosis and management of ophthalmological features in patients with mucopolysaccharidosis.

The British journal of ophthalmology

Ferrari S, Ponzin D, Ashworth JL, Fahnehjelm KT, Summers CG, Harmatz PR, Scarpa M

Enzyme replacement therapy with galsulfase for mucopolysaccharidosis VI: clinical facts and figures.

The Turkish journal of pediatrics

Harmatz P

Management of chronic viral hepatitis in patients with thalassemia: recommendations from an international panel.

Blood

Di Marco V, Capra M, Angelucci E, Borgna-Pignatti C, Telfer P, Harmatz P, Kattamis A, Prossamariti L, Filosa A, Rund D, Gamberini MR, Cianciulli P, De Montalembert M, Gagliardotto F, Foster G, Grang? JD, Cassar? F, Iacono A, Cappellini MD, Brittenham GM, Prati D, Pietrangelo A, Crax? A, Maggio A, Italian Society for the Study of Thalassemia and Haemoglobinopathies, Italian Association for the Study of the Liver

The effect of deferasirox on cardiac iron in thalassemia major: impact of total body iron stores.

Blood

Wood JC, Kang BP, Thompson A, Giardina P, Harmatz P, Glynos T, Paley C, Coates TD

Mucopolysaccharidosis VI.

Orphanet journal of rare diseases

Valayannopoulos V, Nicely H, Harmatz P, Turbeville S

Elevated exhaled carbon monoxide concentration in hemoglobinopathies and its relation to red blood cell transfusion therapy.

Pediatric hematology and oncology

James EB, Vreman HJ, Wong RJ, Stevenson DK, Vichinsky E, Schumacher L, Hall JY, Simon J, Golden DW, Harmatz P

Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase.

Journal of inherited metabolic disease

Harmatz P, Yu ZF, Giugliani R, Schwartz IV, Guffon N, Teles EL, Miranda MC, Wraith JE, Beck M, Arash L, Scarpa M, Ketteridge D, Hopwood JJ, Plecko B, Steiner R, Whitley CB, Kaplan P, Swiedler SJ, Hardy K, Berger KI, Decker C

Assessment of cardiac iron by MRI susceptometry and R2* in patients with thalassemia.

Magnetic resonance imaging

Wang ZJ, Fischer R, Chu Z, Mahoney DH, Mueller BU, Muthupillai R, James EB, Krishnamurthy R, Chung T, Padua E, Vichinsky E, Harmatz P

Bone density assessment in patients with mucopolysaccharidosis: A preliminary report from patients with MPS II and VI.

Journal of pediatric rehabilitation medicine

Fung EB, Johnson JA, Madden J, Kim T, Harmatz P

Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase.

Journal of pediatric rehabilitation medicine

Decker C, Yu ZF, Giugliani R, Schwartz IV, Guffon N, Teles EL, Miranda MC, Wraith JE, Beck M, Arash L, Scarpa M, Ketteridge D, Hopwood JJ, Plecko B, Steiner R, Whitley CB, Kaplan P, Swiedler SJ, Conrad S, Harmatz P

Orthopedic management of mucopolysaccharide disease.

Journal of pediatric rehabilitation medicine

White KK, Harmatz P

Iron metabolism and iron chelation in sickle cell disease.

Acta haematologica

Walter PB, Harmatz P, Vichinsky E

Multidisciplinary management of Hunter syndrome.

Pediatrics

Muenzer J, Beck M, Eng CM, Escolar ML, Giugliani R, Guffon NH, Harmatz P, Kamin W, Kampmann C, Koseoglu ST, Link B, Martin RA, Molter DW, Muñoz Rojas MV, Ogilvie JW, Parini R, Ramaswami U, Scarpa M, Schwartz IV, Wood RE, Wraith E

Patterns of hepatic iron distribution in patients with chronically transfused thalassemia and sickle cell disease.

American journal of hematology

Ghugre NR, Gonzalez-Gomez I, Butensky E, Noetzli L, Fischer R, Williams R, Harmatz P, Coates TD, Wood JC

Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study.

The Journal of pediatrics

Trefz FK, Burton BK, Longo N, Casanova MM, Gruskin DJ, Dorenbaum A, Kakkis ED, Crombez EA, Grange DK, Harmatz P, Lipson MH, Milanowski A, Randolph LM, Vockley J, Whitley CB, Wolff JA, Bebchuk J, Christ-Schmidt H, Hennermann JB, Sapropterin Study Group

Altered iron metabolism in children with human immunodeficiency virus disease.

Pediatric hematology and oncology

Butensky James E, Harmatz P, Lee M, Kennedy C, Petru A, Wara D, Miaskowski C

Non-invasive assessment of tissue iron overload.

Hematology. American Society of Hematology. Education Program

Fischer R, Harmatz PR

Folate concentrations in pediatric patients with newly diagnosed inflammatory bowel disease.

The American journal of clinical nutrition

Heyman MB, Garnett EA, Shaikh N, Huen K, Jose FA, Harmatz P, Winter HS, Baldassano RN, Cohen SA, Gold BD, Kirschner BS, Ferry GD, Stege E, Holland N

Italian Society of Hematology guidelines for thalassemia and non-invasive iron measurements.

Haematologica

Nielsen P, Engelhardt R, Grosse R, Janka G, Harmatz P, Fischer R

Vitamin C treatment reduces elevated C-reactive protein.

Free radical biology & medicine

Block G, Jensen CD, Dalvi TB, Norkus EP, Hudes M, Crawford PB, Holland N, Fung EB, Schumacher L, Harmatz P

Safety and efficacy of pegylated interferon alpha-2a and ribavirin for the treatment of hepatitis C in patients with thalassemia.

Haematologica

Harmatz P, Jonas MM, Kwiatkowski JL, Wright EC, Fischer R, Vichinsky E, Giardina PJ, Neufeld EJ, Porter J, Olivieri N, Thalassemia Clinical Research Network

Disparity in the management of iron overload between patients with sickle cell disease and thalassemia who received transfusions.

Transfusion

Fung EB, Harmatz PR, Milet M, Balasa V, Ballas SK, Casella JF, Hilliard L, Kutlar A, McClain KL, Olivieri NF, Porter JB, Vichinsky EP, Multi-Center Iron Overload Research Group

Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase.

Molecular genetics and metabolism

Harmatz P, Giugliani R, D Schwartz IV, Guffon N, Teles EL, Miranda MCS, Wraith JE, Beck M, Arash L, Scarpa M, Ketteridge D, Hopwood JJ, Plecko B, Steiner R, Whitley CB, Kaplan P, Yu ZF, Swiedler SJ, Decker C, MPS VI Study Group

Inflammation and oxidant-stress in beta-thalassemia patients treated with iron chelators deferasirox (ICL670) or deferoxamine: an ancillary study of the Novartis CICL670A0107 trial.

Haematologica

Walter PB, Macklin EA, Porter J, Evans P, Kwiatkowski JL, Neufeld EJ, Coates T, Giardina PJ, Vichinsky E, Olivieri N, Alberti D, Holland J, Harmatz P, Thalassemia Clinical Research Network

Reversed papilledema in an MPS VI patient with galsulfase (Naglazyme) therapy.

International ophthalmology

Koseoglu ST, Harmatz P, Turbeville S, Nicely H

The effect of vitamins C and E on biomarkers of oxidative stress depends on baseline level.

Free radical biology & medicine

Block G, Jensen CD, Morrow JD, Holland N, Norkus EP, Milne GL, Hudes M, Dalvi TB, Crawford PB, Fung EB, Schumacher L, Harmatz P

Fracture prevalence and relationship to endocrinopathy in iron overloaded patients with sickle cell disease and thalassemia.

Bone

Fung EB, Harmatz PR, Milet M, Coates TD, Thompson AA, Ranalli M, Mignaca R, Scher C, Giardina P, Robertson S, Neumayr L, Vichinsky EP, Multi-Center Iron Overload Study Group

Entering a new treatment age for mucopolysaccharidosis VI disease: a search for better markers of disease progression and response to treatment.

Jornal de pediatria

Harmatz P

Reduced intracellular T-helper 1 interferon-gamma in blood of newly diagnosed children with Crohn's disease and age-related changes in Th1/Th2 cytokine profiles.

Pediatric research

Holland N, Dong J, Garnett E, Shaikh N, Huen K, Harmatz P, Olive A, Winter HS, Gold BD, Cohen SA, Baldassano RN, Kirschner BS, Heyman MB

Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome).

Pediatrics

Martin R, Beck M, Eng C, Giugliani R, Harmatz P, Muñoz V, Muenzer J

Transfusional iron burden and liver toxicity after bone marrow transplantation for acute myelogenous leukemia and hemoglobinopathies.

Pediatric blood & cancer

Jastaniah W, Harmatz P, Pakbaz Z, Fischer R, Vichinsky E, Walters MC

Pharmacokinetics of sapropterin in patients with phenylketonuria.

Clinical pharmacokinetics

Feillet F, Clarke L, Meli C, Lipson M, Morris AA, Harmatz P, Mould DR, Green B, Dorenbaum A, Giovannini M, Foehr E, Sapropterin Research Group

Mutational analysis of 105 mucopolysaccharidosis type VI patients.

Human mutation

Karageorgos L, Brooks DA, Pollard A, Melville EL, Hein LK, Clements PR, Ketteridge D, Swiedler SJ, Beck M, Giugliani R, Harmatz P, Wraith JE, Guffon N, Leão Teles E, Sá Miranda MC, Hopwood JJ

Serum ferritin underestimates liver iron concentration in transfusion independent thalassemia patients as compared to regularly transfused thalassemia and sickle cell patients.

Pediatric blood & cancer

Pakbaz Z, Fischer R, Fung E, Nielsen P, Harmatz P, Vichinsky E

Management guidelines for mucopolysaccharidosis VI.

Pediatrics

Giugliani R, Harmatz P, Wraith JE

Phase Ib clinical trial of starch-conjugated deferoxamine (40SD02): a novel long-acting iron chelator.

British journal of haematology

Harmatz P, Grady RW, Dragsten P, Vichinsky E, Giardina P, Madden J, Jeng M, Miller B, Hanson G, Hedlund B

Iron homeostasis during transfusional iron overload in beta-thalassemia and sickle cell disease: changes in iron regulatory protein, hepcidin, and ferritin expression.

Pediatric hematology and oncology

Jenkins ZA, Hagar W, Bowlus CL, Johansson HE, Harmatz P, Vichinsky EP, Theil EC

Morbidity and mortality in chronically transfused subjects with thalassemia and sickle cell disease: A report from the multi-center study of iron overload.

American journal of hematology

Fung EB, Harmatz P, Milet M, Ballas SK, De Castro L, Hagar W, Owen W, Olivieri N, Smith-Whitley K, Darbari D, Wang W, Vichinsky E, Multi-Center Study of Iron Overload Research Group

Cytogenetic damage in blood lymphocytes and exfoliated epithelial cells of children with inflammatory bowel disease.

Pediatric research

Holland N, Harmatz P, Golden D, Hubbard A, Wu YY, Bae J, Chen C, Huen K, Heyman MB

Caregiving time in sickle cell disease: psychological effects in maternal caregivers.

Pediatric blood & cancer

Moskowitz JT, Butensky E, Harmatz P, Vichinsky E, Heyman MB, Acree M, Wrubel J, Wilson L, Folkman S

Mutational analysis of mucopolysaccharidosis type VI patients undergoing a phase II trial of enzyme replacement therapy.

Molecular genetics and metabolism

Karageorgos L, Brooks DA, Harmatz P, Ketteridge D, Pollard A, Melville EL, Parkinson-Lawrence E, Clements PR, Hopwood JJ

Increased prevalence of iron-overload associated endocrinopathy in thalassaemia versus sickle-cell disease.

British journal of haematology

Fung EB, Harmatz PR, Lee PD, Milet M, Bellevue R, Jeng MR, Kalinyak KA, Hudes M, Bhatia S, Vichinsky EP, Multi-Centre Study of Iron Overload Research Group

Oxidative stress and inflammation in iron-overloaded patients with beta-thalassaemia or sickle cell disease.

British journal of haematology

Walter PB, Fung EB, Killilea DW, Jiang Q, Hudes M, Madden J, Porter J, Evans P, Vichinsky E, Harmatz P

Does liver biopsy overestimate liver iron concentration?

Blood

Fischer R, Harmatz P, Nielsen P

A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome).

Genetics in medicine : official journal of the American College of Medical Genetics

Muenzer J, Wraith JE, Beck M, Giugliani R, Harmatz P, Eng CM, Vellodi A, Martin R, Ramaswami U, Gucsavas-Calikoglu M, Vijayaraghavan S, Wendt S, Wendt S, Puga AC, Puga A, Ulbrich B, Shinawi M, Cleary M, Piper D, Conway AM, Conway AM, Kimura A

Does liver biopsy overestimate liver iron concentration?

Blood

Fischer R, Harmatz P, Nielsen P

Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-l

The Journal of pediatrics

Harmatz P, Giugliani R, Schwartz I, Guffon N, Teles EL, Miranda MC, Wraith JE, Beck M, Arash L, Scarpa M, Yu ZF, Wittes J, Berger KI, Newman MS, Lowe AM, Kakkis E, Swiedler SJ, MPS VI Phase 3 Study Group

Comparison of organ dysfunction in transfused patients with SCD or beta thalassemia.

American journal of hematology

Vichinsky E, Butensky E, Fung E, Hudes M, Theil E, Ferrell L, Williams R, Louie L, Lee PD, Harmatz P

The economic burden of home care for children with HIV and other chronic illnesses.

American journal of public health

Wilson LS, Moskowitz JT, Acree M, Heyman MB, Harmatz P, Ferrando SJ, Folkman S

Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylga

Pediatrics

Harmatz P, Ketteridge D, Giugliani R, Guffon N, Teles EL, Miranda MC, Yu ZF, Swiedler SJ, Hopwood JJ, MPS VI Study Group

Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).

American journal of medical genetics. Part A

Swiedler SJ, Beck M, Bajbouj M, Giugliani R, Schwartz I, Harmatz P, Wraith JE, Roberts J, Ketteridge D, Hopwood JJ, Guffon N, Sá Miranda MC, Teles EL, Berger KI, Piscia-Nichols C