A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients-Reference-Cited by-同舟云学术

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A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients

Published:2007 Issue:2 Volume:28 Page:203-204
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Rubio Juan C.,Garcia-Consuegra Ines,Nogales-Gadea Gisela,Blazquez Alberto,Cabello Ana,Lucia Alejandro,Andreu Antoni L.,Arenas Joaquin,Martin Miguel A.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Cited by 40 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Acute ketone supplementation in the absence of muscle glycogen utilization: Insights from McArdle disease;Clinical Nutrition;2024-03

2. Muscle glycogen unavailability and fat oxidation rate during exercise: Insights from McArdle disease;The Journal of Physiology;2022-11-29

3. Long-Term Exercise Intervention in Patients with McArdle Disease: Clinical and Aerobic Fitness Benefits;Medicine & Science in Sports & Exercise;2022-03-22

4. Challenges and Advances in Molecular Diagnosis of Myopathies and Dystrophies in Perspective of Their Use in Developing Countries: Past, Present, and Future;Neurology India;2021

5. Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry);Orphanet Journal of Rare Diseases;2020-10-15

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