Registered non-profit  |  San Francisco, California, USA  |  info@iamgsd.org  |  © 2019 IAMGSD

RECENT PAPERS

These are published papers and articles which we believe have particular resonance for people with muscle GSD.   

CENTRE OF EXPERTISE: COMPREHENSIVE CARE FOR PATIENTS WITH MCARDLE DISEASE

Journal Rare Disorders: Diagnosis & Therapy, 2018

The limited prevalence of this disease translates into a global challenge of limited specialist care for patients with McArdle disease. A Centre of Expertise (CoE) represents the most expansive platform to provide patients with McArdle disease current best practice that encompass thorough assessments, accurate diagnostic methods, relevant information and guidance, multidisciplinary support and an ongoing interface between primary and specialist care. 

MISDIAGNOSIS AND DIAGNOSTIC DELAY IN MCARDLE DISEASE

Neuromuscular Disorders, 2017

Diagnosis of McArdle disease is frequently delayed by many years following the first presentation of symptoms to a health professional. The aim of this study was to investigate the importance of misdiagnosis in delaying diagnosis of McArdle disease.

GENOTYPIC AND PHENOTYPIC FEATURES OF ALL SPANISH PATIENTS WITH MCARDLE DISEASE: A 2016 UPDATE

Proceedings of the 34th FIMS World Sports Medicine Congress, 2017

The aim of this study was to update the main genotype and phenotype characteristics, as well as potential associations within/between them, of all Spanish individuals who are currently diagnosed with McArdle disease.

CAN A LOW-CARBOHYDRATE DIET IMPROVE EXERCISE TOLERANCE IN MCARDLE DISEASE

Journal Rare Disorders: Diagnosis & Therapy, 2017

A carbohydrate-restricted diet may provide patients with McArdle disease with a consistent energy substrate for working muscles, thereby reducing the risk of muscle damage and threat of renal failure. Further research on the use of a LCKD in McArdle disease is warranted

1 / 2

Please reload

  PAGE CONTROL