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Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome

Journal of inherited metabolic disease, 2016-09, Vol.39 (5), p.697-704

2016

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Dietary management in glycogen storage disease type III: what is the evidence?

Journal of inherited metabolic disease, 2015-05, Vol.38 (3), p.545-550

2015

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Molecular characterization of hepatocellular adenomas developed in patients with glycogen storage disease type I

Journal of hepatology, 2013-02, Vol.58 (2), p.350-357

2013

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Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I)

European journal of pediatrics, 2002-10, Vol.161 Suppl 1 (1), p.S20-S34

2002

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Experimental evidence for protein oxidative damage and altered antioxidant defense in patients with medium-chain acyl-CoA dehydrogenase deficiency

Journal of inherited metabolic disease, 2014-09, Vol.37 (5), p.783-789

2014

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The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: Clinical presentation and outcome

The Journal of pediatrics, 2006-05, Vol.148 (5), p.665-670.e3

2006

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A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene

Journal of medical genetics, 2012-05, Vol.49 (5), p.307-313

2012

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Survival, but not maturation, is affected in neutrophil progenitors from GSD-1b patients

Journal of inherited metabolic disease, 2012-03, Vol.35 (2), p.287-300

2012

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Disturbed hepatic carbohydrate management during high metabolic demand in medium‐chain acyl–CoA dehydrogenase (MCAD)–deficient mice

Hepatology (Baltimore, Md.), 2008-06, Vol.47 (6), p.1894-1904

2008

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Inhibition of mitochondrial fatty acid oxidation in vivo only slightly suppresses gluconeogenesis but enhances clearance of glucose in mice

Hepatology (Baltimore, Md.), 2008-03, Vol.47 (3), p.1032-1042

2008

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Cost-Effectiveness of Neonatal Screening for Medium Chain acyl-CoA Dehydrogenase Deficiency: The Homogeneous Population of the Netherlands

The Journal of pediatrics, 2007-08, Vol.151 (2), p.115-120.e3

2007

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Inflammatory Bowel Disease in Glycogen Storage Disease Type Ia

Journal of pediatric gastroenterology and nutrition, 2017-02, Vol.64 (2), p.e52-e54

2017

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The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature

Pediatrics (Evanston), 2003-08, Vol.112 (2), p.332-340

2003

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Muscle Ultrasound in Patients with Glycogen Storage Disease Types I and III

Ultrasound in medicine & biology, 2016, Vol.42 (1), p.133-142

2016

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Use of modified cornstarch therapy to extend fasting in glycogen storage disease types Ia and Ib

The American journal of clinical nutrition, 2008-11, Vol.88 (5), p.1272-1276

2008

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Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross-sectional national survey

Journal of inherited metabolic disease, 2015-03, Vol.38 (2), p.323-331

2015

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In vitro digestion of starches in a dynamic gastrointestinal model: an innovative study to optimize dietary management of patients with hepatic glycogen storage diseases

Journal of inherited metabolic disease, 2015-05, Vol.38 (3), p.529-536

2015

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Renal Function in Glycogen Storage Disease Type I, Natural Course, and Renopreservative Effects of ACE Inhibition

Clinical journal of the American Society of Nephrology, 2009-11, Vol.4 (11), p.1741-1746

2009

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Apoptotic neutrophils in the circulation of patients with glycogen storage disease type 1b (GSD1b)

Blood, 2003-06, Vol.101 (12), p.5021-5024

2003

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Guidelines for management of glycogen storage disease type I - European Study on Glycogen Storage Disease Type I (ESGSD I)

European journal of pediatrics, 2002-10, Vol.161 Suppl 1 (1), p.S112-S119

2002

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In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes

Orphanet journal of rare diseases, 2013-03, Vol.8 (1), p.43-43

2013

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Erratum to: In vitro digestion of starches in a dynamic gastrointestinal model: an innovative study to optimize dietary management of patients with hepatic glycogen storage diseases

Journal of inherited metabolic disease, 2015-09, Vol.38 (5), p.987-987

2015

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Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study

Orphanet journal of rare diseases, 2012-05, Vol.7 (1), p.30-30

2012

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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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Targeted deletion of kidney glucose-6 phosphatase leads to nephropathy

Kidney international, 2014-10, Vol.86 (4), p.747-756

2014

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Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome

Dietary management in glycogen storage disease type III: what is the evidence?

Molecular characterization of hepatocellular adenomas developed in patients with glycogen storage disease type I

Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I)

Experimental evidence for protein oxidative damage and altered antioxidant defense in patients with medium-chain acyl-CoA dehydrogenase deficiency

The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: Clinical presentation and outcome

A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene

Survival, but not maturation, is affected in neutrophil progenitors from GSD-1b patients

Disturbed hepatic carbohydrate management during high metabolic demand in medium‐chain acyl–CoA dehydrogenase (MCAD)–deficient mice

Inhibition of mitochondrial fatty acid oxidation in vivo only slightly suppresses gluconeogenesis but enhances clearance of glucose in mice

Cost-Effectiveness of Neonatal Screening for Medium Chain acyl-CoA Dehydrogenase Deficiency: The Homogeneous Population of the Netherlands

Inflammatory Bowel Disease in Glycogen Storage Disease Type Ia

The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature

Muscle Ultrasound in Patients with Glycogen Storage Disease Types I and III

Use of modified cornstarch therapy to extend fasting in glycogen storage disease types Ia and Ib

Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross-sectional national survey

In vitro digestion of starches in a dynamic gastrointestinal model: an innovative study to optimize dietary management of patients with hepatic glycogen storage diseases

Renal Function in Glycogen Storage Disease Type I, Natural Course, and Renopreservative Effects of ACE Inhibition

Apoptotic neutrophils in the circulation of patients with glycogen storage disease type 1b (GSD1b)

Guidelines for management of glycogen storage disease type I - European Study on Glycogen Storage Disease Type I (ESGSD I)

In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes

Erratum to: In vitro digestion of starches in a dynamic gastrointestinal model: an innovative study to optimize dietary management of patients with hepatic glycogen storage diseases

Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study

Glycogen Storage Disease Type III diagnosis and management guidelines

Targeted deletion of kidney glucose-6 phosphatase leads to nephropathy

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