Glycogen Storage Disease Type 5 Latest Advances

Find the Latest Research About Glycogen Storage Disease Type 5

Last Updated: 02/24/2026

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Found 284 publications

Coexistence of McArdle disease and hypokalemic periodic paralysis: A case report.

Coexistence of McArdle disease and hypokalemic periodic paralysis: A case report.

Journal: Medicina clinica
Published: August 21, 2025

When Fatigue Hides A Metabolic Myopathy: A Case Report of Mcardle Disease with Molecular Diagnosis.

When Fatigue Hides A Metabolic Myopathy: A Case Report of Mcardle Disease with Molecular Diagnosis.

Journal: European journal of case reports in internal medicine
Published: August 17, 2025

Lactate-induced mitochondrial magnesium uptake and its metabolic implications in the McArdle disease model.

Lactate-induced mitochondrial magnesium uptake and its metabolic implications in the McArdle disease model.

Journal: Biochimica et biophysica acta. Molecular basis of disease
Published: August 14, 2025

Lactate-induced mitochondrial magnesium uptake and its metabolic implications in the McArdle disease model.

Lactate-induced mitochondrial magnesium uptake and its metabolic implications in the McArdle disease model.

Journal: Biochimica et biophysica acta. Molecular basis of disease
Published: August 14, 2025

Muscle Biopsy as a Decisive Tool in a Pediatric Case with Overlapping Genetic Findings for McArdle Disease and Dystrophinopathy.

Muscle Biopsy as a Decisive Tool in a Pediatric Case with Overlapping Genetic Findings for McArdle Disease and Dystrophinopathy.

Journal: Klinische Padiatrie
Published: August 11, 2025

Searching for Clues in the Diagnosis of McArdle Disease.

Searching for Clues in the Diagnosis of McArdle Disease.

Journal: Cureus
Published: June 24, 2025

Acute kidney injury after swimming: a pediatric case of McArdle disease.

Acute kidney injury after swimming: a pediatric case of McArdle disease.

Journal: Pediatric nephrology (Berlin, Germany)
Published: February 27, 2025

Glycogen storage disease type V: delayed diagnosis of a cause of exercise intolerance in a patient with hereditary haemorrhagic telangiectasia.

Glycogen storage disease type V: delayed diagnosis of a cause of exercise intolerance in a patient with hereditary haemorrhagic telangiectasia.

Journal: BMJ case reports
Published: February 20, 2025

McArdle Disease: Insights Into a Rare Metabolic Myopathy in a Young Boy With Recurrent Exercise-Induced Muscle Weakness.

McArdle Disease: Insights Into a Rare Metabolic Myopathy in a Young Boy With Recurrent Exercise-Induced Muscle Weakness.

Journal: Cureus
Published: February 04, 2025

A disease that is difficult to predict: regional distribution and phenotypic, histopathological and genetic findings in McArdle disease.

A disease that is difficult to predict: regional distribution and phenotypic, histopathological and genetic findings in McArdle disease.

Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: December 28, 2024

McArdle Disease: A Diagnostic Challenge Due to Nonspecific Clinical Manifestations.

McArdle Disease: A Diagnostic Challenge Due to Nonspecific Clinical Manifestations.

Journal: Cureus
Published: December 19, 2024

Experiences of living with GSD5 (McArdle) disease: challenges and strategies. A qualitative study in the Netherlands.

Experiences of living with GSD5 (McArdle) disease: challenges and strategies. A qualitative study in the Netherlands.

Journal: Disability and rehabilitation
Published: November 11, 2024
Showing 1-12 of 284

Last Updated: 02/24/2026