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Neuromuscular Disorders
Volume 17, Issue 6
, Pages 494-498
, June 2007
144th ENMC International Workshop: Outcome Measures in McArdle Disease, 29 September–1 November 2006, Naarden, The Netherlands
References
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- . Spontaneous “second wind” and glucose-induced second “second wind” in McArdle disease – oxidative mechanisms. Arch Neurol. 2002;59:1395–1402
- . Do carriers of PYGM mutations have symptoms of McArdle disease?. Neurology. 2006;67:716–718
- . McArdle’s disease a nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all cases. Hum Mol Genet. 1993;2:1291–1293
- . Selected disorders of carbohydrate metabolism. In: Karpati G editors. Structural and molecular basis of skeletal muscle disease. Wiley; 2002;p. 182–188
- . Treatment of McArdle disease. Arch Neurol. 2002;57:923–924
- McArdle disease: the mutation spectrum of PYGM in a large Italian cohort. Hum Mutat. 2006;27:718–727
- Phenotype modulators in phosphorylase deficiency. Ann Neurol. 1993;53:497–502
- . Metabolic myopathies: substrate utilisation defects. In: Griggs RC, Schapira AV editor. Muscle diseases. Boston: Butterworth; 1999;p. 225–249
- . Late-onset type of skeletal muscle phosphorylase activity. A new familial variety with completely and partial affected subjects. N Eng J Med. 1963;268:135–137
- . Fatal infantile form of muscle phosphorylase deficiency. Neurology. 1978;28:1124–1129
- Congenital myopathy due to phosphorylase deficiency. Neurology. 1983;33:1383–1385
- . Pharmacological and nutritional treatment of McArdle’s disease (Glycogen storage disease V). Cochrane Database Syst Rev. 2004;3:CD003458
- . Low levels of muscle pyridoxine in McArdle’s Syndrome. Am J Med. 1983;74:217–220
- . Effect of vitamin B6 supplementation in McArdle’s disease: a strategic case study. Neuromuscul Disord. 1998;8:210–212
- . Effect of oral sucrose on exercise intolerance in patients with McArdle’s disease. N Eng J Med. 2003;349:2503–2509
- . Long term creatine intake is beneficial to muscle performance during resistive training. J Appl Physiol. 1997;83:2055–2063
- Creatine therapy in myophosphorylase activity (McArdle’s disease). A placebo controlled crossover trial. Arch Neurol. 2000;57:956–963
- Effect of high dose creatine therapy on symptoms of exercise intolerance in McArdle’s disease: double-blind placebo controlled cross-over study. Arch Neurol. 2002;59:97–101
- Gentamicin treatment in McArdle disease: failure to correct myophosphorylase deficiency. Neurology. 2006;66:285–286
- Treatment of glycogenosis type V with ketogenic diet. Ann Neurol. 2005;58:341
- . Aerobic conditioning: an effective therapy in McArdle’s disease. Ann Neurol. 2006;59:922–928
- Exercise tolerance and daily life in McArdle’s disease. Muscle Nerve. 2005;31:637–641
PII: S0960-8966(07)00082-X
doi: 10.1016/j.nmd.2007.03.001
© 2007 Elsevier B.V. All rights reserved.
« Previous
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Neuromuscular Disorders
Volume 17, Issue 6
, Pages 494-498
, June 2007
