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Mucopolysaccharidosis I: management and treatment guidelines

Pediatrics (Evanston), 2009-01, Vol.123 (1), p.19-29

2009

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Genotype‐phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry

Clinical genetics, 2019-10, Vol.96 (4), p.281-289

2019

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The mucopolysaccharidoses: a success of molecular medicine

Expert reviews in molecular medicine, 2008, Vol.10, p.e1-e1, Article e1

Clarke, Lorne A

2008

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Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I

Pediatrics (Evanston), 2009-01, Vol.123 (1), p.229-240

2009

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Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management

The Journal of pediatrics, 2017-03, Vol.182, p.363-370

2017

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Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial

PloS one, 2015-05, Vol.10 (5), p.e0124987-e0124987

2015

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Urolithiasis and hepatotoxicity are linked to the anion transporter Sat1 in mice

The Journal of clinical investigation, 2010-03, Vol.120 (3), p.706-712

2010

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Newborn Screening for Mucopolysaccharidosis I: Moving Forward Learning from Experience

International journal of neonatal screening, 2020-11, Vol.6 (4), p.91

2020

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Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism

HGG advances, 2024-01, Vol.5 (1), p.100259-100259, Article 100259

2024

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Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux–Lamy syndrome): under-recognized and challenging to diagnose

Skeletal radiology, 2014-03, Vol.43 (3), p.359-369

2014

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Production of active human glucocerebrosidase in seeds of Arabidopsis thaliana complex-glycan-deficient (cgl) plants

Glycobiology (Oxford), 2012-04, Vol.22 (4), p.492-503

2012

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Imaging of enzyme replacement therapy using PET

Proceedings of the National Academy of Sciences - PNAS, 2010-06, Vol.107 (24), p.10842-10847

2010

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Pathogenesis of skeletal and connective tissue involvement in the mucopolysaccharidoses: glycosaminoglycan storage is merely the instigator

Rheumatology (Oxford, England), 2011-12, Vol.50 (suppl_5), p.v13-v18

Clarke, Lorne A.

2011

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Is it Fabry disease?

Genetics in medicine, 2016-12, Vol.18 (12), p.1181-1185

2016

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Natural history of cardiac findings in mucopolysaccharidosis type I: report from an international registry

Cardiology in the young, 2024-02, Vol.34 (2), p.401-411

2024

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Growth patterns for untreated individuals with MPS I: Report from the international MPS I registry

American journal of medical genetics. Part A, 2019-12, Vol.179 (12), p.2425-2432

2019

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Enzyme-replacement therapy in a 5-month-old boy with attenuated presymptomatic MPS I: 5-year follow-up

Pediatrics (Evanston), 2010-01, Vol.125 (1), p.e183-e187

2010

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Extracellular matrix disruption is an early event in the pathogenesis of skeletal disease in mucopolysaccharidosis I

Molecular genetics and metabolism, 2015-02, Vol.114 (2), p.146-155

2015

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Pharmacological Chaperones for GCase that Switch Conformation with pH Enhance Enzyme Levels in Gaucher Animal Models

Angewandte Chemie International Edition, 2022-09, Vol.61 (38), p.e202207974-n/a

International ed. in English, 2022

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Growth in individuals with attenuated mucopolysaccharidosis type I during untreated and treated periods: Data from the MPS I registry

American journal of medical genetics. Part A, 2022-10, Vol.188 (10), p.2941-2951

2022

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12 year follow up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I: the important role of early treatment

BMC medical genetics, 2016-03, Vol.17 (1), p.19-19, Article 19

2016

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Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial

Molecular genetics and metabolism, 2019-05, Vol.127 (1), p.86-94

2019

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Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human α-L-iduronidase (laronidase)

The Journal of pediatrics, 2004-05, Vol.144 (5), p.581-588

2004

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Implementing evidence-driven individualized treatment plans within Morquio A Syndrome

Molecular genetics and metabolism, 2016-02, Vol.117 (2), p.217-217

2016

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Transgenic mice expressing human glucocerebrosidase variants: Utility for the study of Gaucher disease

Blood cells, molecules, & diseases, 2013-08, Vol.51 (2), p.109-115

2013

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Mucopolysaccharidosis I: management and treatment guidelines

Genotype‐phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry

The mucopolysaccharidoses: a success of molecular medicine

Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I

Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management

Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial

Urolithiasis and hepatotoxicity are linked to the anion transporter Sat1 in mice

Newborn Screening for Mucopolysaccharidosis I: Moving Forward Learning from Experience

Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism

Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux–Lamy syndrome): under-recognized and challenging to diagnose

Production of active human glucocerebrosidase in seeds of Arabidopsis thaliana complex-glycan-deficient (cgl) plants

Imaging of enzyme replacement therapy using PET

Pathogenesis of skeletal and connective tissue involvement in the mucopolysaccharidoses: glycosaminoglycan storage is merely the instigator

Is it Fabry disease?

Natural history of cardiac findings in mucopolysaccharidosis type I: report from an international registry

Growth patterns for untreated individuals with MPS I: Report from the international MPS I registry

Enzyme-replacement therapy in a 5-month-old boy with attenuated presymptomatic MPS I: 5-year follow-up

Extracellular matrix disruption is an early event in the pathogenesis of skeletal disease in mucopolysaccharidosis I

Pharmacological Chaperones for GCase that Switch Conformation with pH Enhance Enzyme Levels in Gaucher Animal Models

Growth in individuals with attenuated mucopolysaccharidosis type I during untreated and treated periods: Data from the MPS I registry

12 year follow up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I: the important role of early treatment

Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial

Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human α-L-iduronidase (laronidase)

Implementing evidence-driven individualized treatment plans within Morquio A Syndrome

Transgenic mice expressing human glucocerebrosidase variants: Utility for the study of Gaucher disease

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