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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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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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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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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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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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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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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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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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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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Cholinergic therapy for Down's syndrome

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

1999

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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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Canine model and genomic structural organization of glycogen storage disease type Ia (GSD Ia)

Veterinary pathology, 2001-01, Vol.38 (1), p.83

2001

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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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Diagnostic and treatment challenges of neuronopathic Gaucher disease: Two cases with an intermediate phenotype

Journal of inherited metabolic disease, 2004, Vol.27 (5), p.687-690

2004

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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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Nutritional deficiencies in a patient with glycogen storage disease type Ib

Journal of inherited metabolic disease, 1999-10, Vol.22 (7), p.795-801

1999

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Donepezil for Down's Syndrome

The American journal of psychiatry, 2001-01, Vol.158 (1), p.143-143

2001

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Recombinant macrophage targeted enzyme replacement therapy for Gaucher disease in India

Indian pediatrics, 2011-10, Vol.48 (10), p.779-784

2011

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The use of acarbose inhibition in the measurement of acid alpha-glucosidase activity in blood lymphocytes for the diagnosis of Pompe disease

Genetics in medicine, 2006-05, Vol.8 (5), p.307-312

2006

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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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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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Timing of diagnosis of patients with pompe disease: Data from the pompe registry

American journal of medical genetics. Part A, 2013-10, Vol.161A (10), p.2431-2443

2013

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Immunomodulatory, liver depot gene therapy for Pompe disease

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

Emerging therapies for glycogen storage disease type I

Divergent phenotypes in Gaucher disease implicate the role of modifiers

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

Benzoate treatment and the glycine index in nonketotic hyperglycinaemia

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

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

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

Glycogen Storage Disease Type III diagnosis and management guidelines

Cholinergic therapy for Down's syndrome

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

Canine model and genomic structural organization of glycogen storage disease type Ia (GSD Ia)

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

Diagnostic and treatment challenges of neuronopathic Gaucher disease: Two cases with an intermediate phenotype

Cardiac Pathology in Glycogen Storage Disease Type III

Nutritional deficiencies in a patient with glycogen storage disease type Ib

Donepezil for Down's Syndrome

Recombinant macrophage targeted enzyme replacement therapy for Gaucher disease in India

The use of acarbose inhibition in the measurement of acid alpha-glucosidase activity in blood lymphocytes for the diagnosis of Pompe disease

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

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

Timing of diagnosis of patients with pompe disease: Data from the pompe registry

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