Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)

[1]  M. Vorgerd,et al.  Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry) , 2020, Orphanet Journal of Rare Diseases.

[2]  E. Malfatti,et al.  Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment , 2019, Acta Neuropathologica Communications.

[3]  P. Laforêt,et al.  No effect of triheptanoin on exercise performance in McArdle disease , 2019, Annals of clinical and translational neurology.

[4]  O. Mahroo,et al.  Retinopathy Associated with Biallelic Mutations in PYGM (McArdle Disease) , 2019, Ophthalmology.

[5]  P. Taylor,et al.  Global epidemiology of hyperthyroidism and hypothyroidism , 2018, Nature Reviews Endocrinology.

[6]  S. Dimauro,et al.  Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiency , 2018, Neurology.

[7]  Jeremy Michelson My Diagnostic Odyssey-A Call to Expand Access to Genomic Testing for the Next Generation. , 2018, The Hastings Center report.

[8]  J. Stoller The Challenge of Rare Diseases. , 2018, Chest.

[9]  P. Laforêt,et al.  Muscle glycogen synthesis and breakdown are both impaired in glycogenin-1 deficiency , 2017, Neurology.

[10]  A. Santalla,et al.  Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update , 2017, BMC Genomics.

[11]  R. Godfrey,et al.  Misdiagnosis is an important factor for diagnostic delay in McArdle disease , 2017, Neuromuscular Disorders.

[12]  B. Engelen,et al.  PGM1 deficiency: Substrate use during exercise and effect of treatment with galactose , 2017, Neuromuscular Disorders.

[13]  J. Vissing,et al.  Differential glucose metabolism in mice and humans affected by McArdle disease. , 2016, American journal of physiology. Regulatory, integrative and comparative physiology.

[14]  J. Vissing,et al.  Differential Muscle Involvement in Mice and Humans Affected by McArdle Disease , 2016, Journal of neuropathology and experimental neurology.

[15]  J. Holton,et al.  G.P.117 Sodium valproate for McArdle disease (glycogen storage disease type V – GSDV) , 2015, Neuromuscular Disorders.

[16]  R. Haller,et al.  Lactate and Energy Metabolism During Exercise in Patients With Blocked Glycogenolysis (McArdle Disease). , 2015, The Journal of clinical endocrinology and metabolism.

[17]  P. Laforêt,et al.  Skeletal muscle metabolism is impaired during exercise in glycogen storage disease type III , 2015, Neurology.

[18]  P. Kishnani,et al.  Ocular and histologic findings in a series of children with infantile pompe disease treated with enzyme replacement therapy. , 2014, Journal of pediatric ophthalmology and strabismus.

[19]  M. Kruijshaar,et al.  Phenotypical variation within 22 families with Pompe disease , 2013, Orphanet Journal of Rare Diseases.

[20]  J. Mink,et al.  Clinical Trials in Rare Disease , 2013, Journal of child neurology.

[21]  R. Conwit,et al.  Adding more muscle and nerve to clinical trials , 2011, Muscle & nerve.

[22]  M. Rose,et al.  McArdle disease: a clinical review , 2010, Journal of Neurology, Neurosurgery & Psychiatry.

[23]  P. Laforêt,et al.  Permanent muscle weakness in MCArdle disease , 2009, Muscle & nerve.

[24]  R. Scalco Translational research studies in exercise-related muscle disorders , 2018 .

[25]  Hilde van der Togt,et al.  Publisher's Note , 2003, J. Netw. Comput. Appl..