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Last Updated: 10/31/2025

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Found 280 publications

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

McArdle Disease Diagnosis After 2 Decades of Kidney Transplantation.

McArdle Disease Diagnosis After 2 Decades of Kidney Transplantation.

Journal: Progress in transplantation (Aliso Viejo, Calif.)
Published: October 07, 2024

Commentary on the dose-response effect of pre-exercise carbohydrates in McArdle disease: Methodological considerations and practical implications.

Commentary on the dose-response effect of pre-exercise carbohydrates in McArdle disease: Methodological considerations and practical implications.

Journal: Journal of sport and health science
Published: August 28, 2024

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.

Journal: Medicine and science in sports and exercise
Published: August 20, 2024

Metabolic aspects of glycogenolysis with special attention to McArdle disease.

Metabolic aspects of glycogenolysis with special attention to McArdle disease.

Journal: Molecular genetics and metabolism
Published: May 29, 2024
Showing 1-12 of 280

Last Updated: 10/31/2025