Glycogen Storage Disease Type 5 Latest Advances

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.

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.

Journal: Klinische Padiatrie

Published: August 11, 2025

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.

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.

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.

Journal: Cureus

Published: February 04, 2025

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.

Journal: Cureus

Published: December 19, 2024

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

Journal: Disability and rehabilitation

Published: November 11, 2024

McArdle Disease Diagnosis After 2 Decades of Kidney Transplantation.

Journal: Progress in transplantation (Aliso Viejo, Calif.)

Published: October 07, 2024

Exercise Intolerance in McArdle Disease: A Role for Cardiac Impairment? A Preliminary Study in Humans and Mice.

Journal: Medicine and science in sports and exercise

Published: August 20, 2024

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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.

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.

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.

Searching for Clues in the Diagnosis of McArdle Disease.

Searching for Clues in the Diagnosis of McArdle Disease.

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

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

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.

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.

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.

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

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

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.

McArdle Disease Diagnosis After 2 Decades of Kidney Transplantation.

McArdle Disease Diagnosis After 2 Decades of Kidney Transplantation.

Exercise Intolerance in McArdle Disease: A Role for Cardiac Impairment? A Preliminary Study in Humans and Mice.

Exercise Intolerance in McArdle Disease: A Role for Cardiac Impairment? A Preliminary Study in Humans and Mice.