Exercise testing‐based algorithms to diagnose McArdle disease and MAD defects
Sign Up to like & getrecommendations! Published in 2018 at "Acta Neurologica Scandinavica"
DOI: 10.1111/ane.12957
Abstract: As exercise intolerance and exercise‐induced myalgia are commonly encountered in metabolic myopathies, functional screening tests are commonly used during the diagnostic work‐up. Our objective was to evaluate the accuracy of isometric handgrip test (IHT) and… read more here.
Keywords: mcardle disease; based algorithms; exercise testing; exercise ... See more keywords
Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)
Sign Up to like & getrecommendations! Published in 2020 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-020-01562-x
Abstract: Background The European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC) was launched to register rare muscle glycogenoses in Europe, to facilitate recruitment for research trials and to learn about the phenotypes… read more here.
Keywords: mcardle disease; muscle glycogenoses; muscle; european registry ... See more keywords
[McArdle's disease in four pediatric patients. Diagnostic algorithm for exercise intolerance].
Sign Up to like & getrecommendations! Published in 2022 at "Revista de neurologia"
DOI: 10.33588/rn.7506.2022212
Abstract: INTRODUCTION McArdle's disease is caused by a mutation in the PYGM gene, causing a muscle myophosphorylase deficiency, altering the release of glucose-1-P from glycogen. It usually manifests itself in childhood with early and excessive tiredness,… read more here.
Keywords: diagnostic algorithm; disease; four pediatric; mcardle disease ... See more keywords
McArdle Disease: Clinical, Biochemical, Histological and Molecular Genetic Analysis of 60 Patients
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DOI: 10.3390/biomedicines8020033
Abstract: A clinical, biochemical, histological and molecular genetic analysis of 60 McArdle patients (33 males and 27 females; mean age at diagnosis: 37 years) was performed. The objective of this study was to identify a possible… read more here.
Keywords: mcardle disease; clinical biochemical; biochemical histological; molecular genetic ... See more keywords
Patient-Reported Experiences with a Low-Carbohydrate Ketogenic Diet: An International Survey in Patients with McArdle Disease
Sign Up to like & getrecommendations! Published in 2023 at "Nutrients"
DOI: 10.3390/nu15040843
Abstract: The low-carbohydrate ketogenic diet (LCKD) has attracted increased attention in recent years as a potential treatment option for individuals with McArdle disease (glycogen storage disease type V), and despite the absence of strong scientific evidence… read more here.
Keywords: patient reported; disease; mcardle disease; reported experiences ... See more keywords