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Rare lysosomal disease registries: lessons learned over three decades of real-world evidence

Orphanet journal of rare diseases, 2022-10, Vol.17 (1), p.362-362, Article 362

2022

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Immunomodulatory, liver depot gene therapy for Pompe disease

Cellular immunology, 2019-08, Vol.342, p.103737-103737, Article 103737

2019

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A Delphi panel to build consensus on assessing disease severity and disease progression in adult patients with hypophosphatasia in the United States

Journal of endocrinological investigation, 2024, Vol.47 (6), p.1487-1497

2024

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HLA- and genotype-based risk assessment model to identify infantile onset pompe disease patients at high-risk of developing significant anti-drug antibodies (ADA)

Clinical immunology (Orlando, Fla.), 2019-03, Vol.200, p.66-70

2019

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A role for plasma cell targeting agents in immune tolerance induction in autoimmune disease and antibody responses to therapeutic proteins

Clinical immunology (Orlando, Fla.), 2016-04, Vol.165, p.55-59

2016

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Divergent phenotypes in Gaucher disease implicate the role of modifiers

Journal of medical genetics, 2005-06, Vol.42 (6), p.e37-e37

2005

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Hepatocellular carcinoma in glycogen storage disease type Ia: A case series

Journal of inherited metabolic disease, 2005-01, Vol.28 (2), p.153-162

2005

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Glycogen Storage Disease Type III diagnosis and management guidelines

Genetics in medicine, 2010-07, Vol.12 (7), p.446-463

2010

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Emerging therapies for glycogen storage disease type I

Trends in endocrinology and metabolism, 2009-07, Vol.20 (5), p.252-258

2009

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Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting

Molecular genetics and metabolism, 2008-03, Vol.93 (3), p.275-281

2008

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Glycogen storage disease types I and II: Treatment updates

Journal of inherited metabolic disease, 2007-04, Vol.30 (2), p.159-164

2007

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P.025 Efficacy and safety results of the avalglucosidase alfa phase 3 COMET trial in participants with late-onset Pompe disease (LOPD)

Canadian journal of neurological sciences, 2021-11, Vol.48 (s3), p.S27-S27

2021

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A randomized trial comparing the efficacy and safety of imiglucerase (Cerezyme) infusions every 4 weeks versus every 2 weeks in the maintenance therapy of adult patients with Gaucher disease type 1

Molecular genetics and metabolism, 2009-04, Vol.96 (4), p.164-170

2009

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Successful combined liver/kidney transplantation from a donor with Pompe disease

Molecular genetics and metabolism, 2015-08, Vol.115 (4), p.141-144

2015

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Benzoate treatment and the glycine index in nonketotic hyperglycinaemia

Journal of inherited metabolic disease, 2005-01, Vol.28 (5), p.651-663

2005

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Evaluation of 3‐methylcrotonyl‐CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening

Journal of inherited metabolic disease, 2003-07, Vol.26 (1), p.25-35

2003

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Fracture burden in children and adults with hypophosphatasia

Bone (New York, N.Y.), 2012-05, Vol.50, p.S172-S173

2012

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Three successful pregnancies through dietary management of fructose-1,6-bisphosphatase deficiency

Journal of inherited metabolic disease, 2007-10, Vol.30 (5), p.819-819

2007

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Health-related quality of life of people with down’s syndrome: Initial results from a non-drug longitudinal multi-nationl study

Value in health, 2014-05, Vol.17 (3), p.A221-A221

2014

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The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease

Genetics in medicine, 2011-08, Vol.13 (8), p.729-736

2011

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P377 Patients in the Pompe registry who switched from alglucosidase alfa to avalglucosidase alfa: Real-world experience

Neuromuscular disorders : NMD, 2023-10, Vol.33, p.S152-S152

2023

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Cardiac Pathology in Glycogen Storage Disease Type III

JIMD Reports - Case and Research Reports, 2012/3, 2012-01, Vol.6, p.65-72

2012

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Enzyme replacement therapy (ENB-0040) in hypophosphatasia improves functional outcome and decreases TNSALP substrates in adolescents and adults

Bone (New York, N.Y.), 2012-05, Vol.50, p.S39-S39

2012

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The emerging phenotype of long-term survivors with infantile Pompe disease

Genetics in medicine, 2012-09, Vol.14 (9), p.800-810

2012

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Cholinergic therapy for Down's syndrome

The Lancet (British edition), 1999-03, Vol.353 (9158), p.1064-1065

1999

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Rare lysosomal disease registries: lessons learned over three decades of real-world evidence

Immunomodulatory, liver depot gene therapy for Pompe disease

A Delphi panel to build consensus on assessing disease severity and disease progression in adult patients with hypophosphatasia in the United States

HLA- and genotype-based risk assessment model to identify infantile onset pompe disease patients at high-risk of developing significant anti-drug antibodies (ADA)

A role for plasma cell targeting agents in immune tolerance induction in autoimmune disease and antibody responses to therapeutic proteins

Divergent phenotypes in Gaucher disease implicate the role of modifiers

Hepatocellular carcinoma in glycogen storage disease type Ia: A case series

Glycogen Storage Disease Type III diagnosis and management guidelines

Emerging therapies for glycogen storage disease type I

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting

Glycogen storage disease types I and II: Treatment updates

P.025 Efficacy and safety results of the avalglucosidase alfa phase 3 COMET trial in participants with late-onset Pompe disease (LOPD)

A randomized trial comparing the efficacy and safety of imiglucerase (Cerezyme) infusions every 4 weeks versus every 2 weeks in the maintenance therapy of adult patients with Gaucher disease type 1

Successful combined liver/kidney transplantation from a donor with Pompe disease

Benzoate treatment and the glycine index in nonketotic hyperglycinaemia

Evaluation of 3‐methylcrotonyl‐CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening

Fracture burden in children and adults with hypophosphatasia

Three successful pregnancies through dietary management of fructose-1,6-bisphosphatase deficiency

Health-related quality of life of people with down’s syndrome: Initial results from a non-drug longitudinal multi-nationl study

The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease

P377 Patients in the Pompe registry who switched from alglucosidase alfa to avalglucosidase alfa: Real-world experience

Cardiac Pathology in Glycogen Storage Disease Type III

Enzyme replacement therapy (ENB-0040) in hypophosphatasia improves functional outcome and decreases TNSALP substrates in adolescents and adults

The emerging phenotype of long-term survivors with infantile Pompe disease

Cholinergic therapy for Down's syndrome

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