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About 209 results

ALLMedicine™ Metabolic Myopathies Center

Research & Reviews  103 results

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

Sep 17th, 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 17th, 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 3rd, 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 ...

Growth and differentiation factor 15 as a biomarker for mitochondrial myopathy.
https://doi.org/10.1016/j.mito.2019.10.005
Mitochondrion Poulsen NS, Madsen KL et. al.

Nov 1st, 2019 - We investigated if Growth and Differentiation Factor 15 (GDF-15) can be used as a biomarker to distinguish patients with mitochondrial myopathy from patients with other myopathies. Serum GDF-15 was measured in 28 patients with mitochondrial diseas...

Translational Medicine: Exercise Physiology Applied to Metabolic Myopathies.
https://doi.org/10.1249/MSS.0000000000002056
Medicine and Science in Sports and Exercise; Grassi B, Porcelli S et. al.

Oct 21st, 2019 - : The relevance of translational medicine (bringing basic science methods "to the bed of patients") is universally recognized. Too often, however, the tools to be applied translationally are thought to derive only from the "-omics" (genomics, prot...

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Clinicaltrials.gov  105 results

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

Sep 17th, 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 17th, 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 3rd, 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 ...

Growth and differentiation factor 15 as a biomarker for mitochondrial myopathy.
https://doi.org/10.1016/j.mito.2019.10.005
Mitochondrion Poulsen NS, Madsen KL et. al.

Nov 1st, 2019 - We investigated if Growth and Differentiation Factor 15 (GDF-15) can be used as a biomarker to distinguish patients with mitochondrial myopathy from patients with other myopathies. Serum GDF-15 was measured in 28 patients with mitochondrial diseas...

Translational Medicine: Exercise Physiology Applied to Metabolic Myopathies.
https://doi.org/10.1249/MSS.0000000000002056
Medicine and Science in Sports and Exercise; Grassi B, Porcelli S et. al.

Oct 21st, 2019 - : The relevance of translational medicine (bringing basic science methods "to the bed of patients") is universally recognized. Too often, however, the tools to be applied translationally are thought to derive only from the "-omics" (genomics, prot...

see more →

Patient Education  1 results see all →