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About 108 results

ALLMedicine™ Metabolic Myopathies Center

Research & Reviews  39 results

Primary mitochondrial myopathies in childhood.
https://doi.org/10.1016/j.nmd.2021.08.005
Neuromuscular Disorders : NMD; Olimpio C, Tiet MY et. al.

Nov 6th, 2021 - Primary mitochondrial myopathies are genetic metabolic disorders of mitochondrial dysfunction affecting mainly, but not exclusively, skeletal muscle. Although individually rare, they are the most common inherited metabolic disorders in childhood. ...

Oral Ketone Body Supplementation in Patients With McArdle Disease
https://clinicaltrials.gov/ct2/show/NCT03945370

Oct 6th, 2020 - McArdle disease, glycogen storage disease type V, is a rare metabolic disease caused by mutations in the PYGM gene resulting in absence of the enzyme muscle phosphorylase. Affected individuals are unable to utilize sugar stored as glycogen in musc...

Diagnostic challenges in metabolic myopathies.
https://doi.org/10.1080/14737175.2020.1825943
Expert Review of Neurotherapeutics; Angelini C, Marozzo R et. al.

Sep 18th, 2020 - Metabolic myopathies comprise a clinically etiological diverse group of disorders caused by defects in cellular energy metabolism including the breakdown of carbohydrates and fatty acids, which include glycogen storage diseases and fatty acid oxid...

Pitfalls in the diagnosis of myositis.
https://doi.org/10.1016/j.berh.2020.101486
Best Practice & Research. Clinical Rheumatology; Chinoy H, Lilleker JB

Feb 18th, 2020 - The idiopathic inflammatory myopathies are a group of heterogeneous autoimmune connective tissue diseases. Despite increase in the understanding of these conditions, securing a timely diagnosis and accurate subtype classification remains difficult...

Mitochondrial and Metabolic Myopathies.
https://doi.org/10.1212/CON.0000000000000805
Continuum (Minneapolis, Minn.); Cohen BH

Dec 4th, 2019 - This article provides an overview of mitochondrial and metabolic biology, the genetic mechanisms causing mitochondrial diseases, the clinical features of mitochondrial diseases, lipid myopathies, and glycogen storage diseases, all with a focus on ...

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Clinicaltrials.gov  1 results

Oral Ketone Body Supplementation in Patients With McArdle Disease
https://clinicaltrials.gov/ct2/show/NCT03945370

Oct 6th, 2020 - McArdle disease, glycogen storage disease type V, is a rare metabolic disease caused by mutations in the PYGM gene resulting in absence of the enzyme muscle phosphorylase. Affected individuals are unable to utilize sugar stored as glycogen in musc...

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Patient Education  2 results see all →