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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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Improved inflammatory bowel disease, wound healing and normal oxidative burst under treatment with empagliflozin in glycogen storage disease type Ib

Orphanet journal of rare diseases, 2020-08, Vol.15 (1), p.1-218, Article 218

2020

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Crohn disease-like enterocolitis remission after empagliflozin treatment in a child with glycogen storage disease type Ib: a case report

Italian journal of pediatrics, 2021-07, Vol.47 (1), p.149-9, Article 149

2021

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Personalised modelling of clinical heterogeneity between medium-chain acyl-CoA dehydrogenase patients

BMC biology, 2023-09, Vol.21 (1), p.1-184, Article 184

2023

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Mutations in RARS cause hypomyelination

Annals of neurology, 2014-07, Vol.76 (1), p.134-139

2014

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A Prospective Study on Continuous Glucose Monitoring in Glycogen Storage Disease Type Ia: Toward Glycemic Targets

The journal of clinical endocrinology and metabolism, 2022-09, Vol.107 (9), p.e3612-e3623

2022

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Evaluation of glycogen storage disease as a cause of ketotic hypoglycemia in children

Journal of inherited metabolic disease, 2015-05, Vol.38 (3), p.489-493

2015

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A triple-blinded crossover study to evaluate the short-term safety of sweet manioc starch for the treatment of glycogen storage disease type Ia

Orphanet journal of rare diseases, 2021-06, Vol.16 (1), p.254-254, Article 254

2021

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Precision-cut liver slices as an ex vivo model to assess impaired hepatic glucose production

Communications biology, 2024-11, Vol.7 (1), p.1479-13, Article 1479

2024

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Lipids in hepatic glycogen storage diseases: pathophysiology, monitoring of dietary management and future directions

Journal of inherited metabolic disease, 2015-05, Vol.38 (3), p.537-543

2015

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Important Lessons on Long-Term Stability of Amino Acids in Stored Dried Blood Spots

International journal of neonatal screening, 2023-06, Vol.9 (3), p.34

2023

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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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Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs

Nutrients, 2021-10, Vol.13 (11), p.3828

2021

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The multiple faces of urinary glucose tetrasaccharide as biomarker for patients with hepatic glycogen storage diseases

Genetics in medicine, 2020-11, Vol.22 (11), p.1915-1916

2020

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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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Glycogen storage diseases

Nature reviews. Disease primers, 2023-09, Vol.9 (1), p.46-46, Article 46

2023

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Abnormal glucose homeostasis and fasting intolerance in patients with congenital porto-systemic shunts

Frontiers in endocrinology (Lausanne), 2023-08, Vol.14, p.1190473-1190473

2023

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Modeling Phenotypic Heterogeneity of Glycogen Storage Disease Type 1a Liver Disease in Mice by Somatic CRISPR/CRISPR‐associated protein 9–Mediated Gene Editing

Hepatology (Baltimore, Md.), 2021-11, Vol.74 (5), p.2491-2507

2021

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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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Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control

Journal of inherited metabolic disease, 2017-09, Vol.40 (5), p.695-702

2017

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Dynamic Methods for Childhood Hypoglycemia Phenotyping: A Narrative Review

Frontiers in endocrinology (Lausanne), 2022-06, Vol.13, p.858832-858832

2022

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Prediction of disease severity in multiple acyl‐CoA dehydrogenase deficiency: A retrospective and laboratory cohort study

Journal of inherited metabolic disease, 2019-09, Vol.42 (5), p.878-889

2019

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Hepatocytes contribute to residual glucose production in a mouse model for glycogen storage disease type Ia

Hepatology (Baltimore, Md.), 2017-12, Vol.66 (6), p.2042-2054

2017

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Glycogen storage disease type Ia: Adult presentation with microcytic anemia and liver adenomas

Hepatology (Baltimore, Md.), 2018-08, Vol.68 (2), p.780-782

2018

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

Improved inflammatory bowel disease, wound healing and normal oxidative burst under treatment with empagliflozin in glycogen storage disease type Ib

Crohn disease-like enterocolitis remission after empagliflozin treatment in a child with glycogen storage disease type Ib: a case report

Personalised modelling of clinical heterogeneity between medium-chain acyl-CoA dehydrogenase patients

Mutations in RARS cause hypomyelination

A Prospective Study on Continuous Glucose Monitoring in Glycogen Storage Disease Type Ia: Toward Glycemic Targets

Evaluation of glycogen storage disease as a cause of ketotic hypoglycemia in children

A triple-blinded crossover study to evaluate the short-term safety of sweet manioc starch for the treatment of glycogen storage disease type Ia

Precision-cut liver slices as an ex vivo model to assess impaired hepatic glucose production

Lipids in hepatic glycogen storage diseases: pathophysiology, monitoring of dietary management and future directions

Important Lessons on Long-Term Stability of Amino Acids in Stored Dried Blood Spots

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

Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs

The multiple faces of urinary glucose tetrasaccharide as biomarker for patients with hepatic glycogen storage diseases

Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency

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

Glycogen storage diseases

Abnormal glucose homeostasis and fasting intolerance in patients with congenital porto-systemic shunts

Modeling Phenotypic Heterogeneity of Glycogen Storage Disease Type 1a Liver Disease in Mice by Somatic CRISPR/CRISPR‐associated protein 9–Mediated Gene Editing

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

Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control

Dynamic Methods for Childhood Hypoglycemia Phenotyping: A Narrative Review

Prediction of disease severity in multiple acyl‐CoA dehydrogenase deficiency: A retrospective and laboratory cohort study

Hepatocytes contribute to residual glucose production in a mouse model for glycogen storage disease type Ia

Glycogen storage disease type Ia: Adult presentation with microcytic anemia and liver adenomas

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