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referencesuptodate· REFERENCES· item f0_56_905

REFERENCES Tein I. Metabolic myopathies. Semin Pediatr Neurol 1996; 3:59. Darras BT, Friedman NR. Metabolic myopathies: a clinical approach; part I. Pediatr Neurol 2000; 22:87. Berardo A, DiMauro S, Hirano M. A diagnostic algorithm for metabolic myopathies. Curr Neurol Neurosci Rep 2010; 10:118. Haller RG, Vissing J. Spontaneous "second wind" and glucose-induced second "second wind" in McArdle disease: oxidative mechanisms. Arch Neurol 2002; 59:1395. Haller RG, Vissing J. No spontaneous second wind in muscle phosphofructokinase deficiency. Neurology 2004; 62:82. Haller RG, Lewis SF. Glucose-induced exertional fatigue in muscle phosphofructokinase deficiency. N Engl J Med 1991; 324:364. Bell AW, Thompson GE. Free fatty acid oxidation in bovine muscle in vivo: effects of cold exposure and feeding. Am J Physiol 1979; 237:E309. Hale DE, Bennett MJ. Fatty acid oxidation disorders: a new class of metabolic diseases. J Pediatr 1992; 121:1. Tein I, De Vivo DC, Bierman F, et al. Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy. Pediatr Res 1990; 28:247. Stanley CA, DeLeeuw S, Coates PM, et al. Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake. Ann Neurol 1991; 30:709. Melli G, Chaudhry V, Cornblath DR. Rhabdomyolysis: an evaluation of 475 hospitalized patients. Medicine (Baltimore) 2005; 84:377. Mannix R, Tan ML, Wright R, Baskin M. Acute pediatric rhabdomyolysis: causes and rates of renal failure. Pediatrics 2006; 118:2119. van Adel BA, Tarnopolsky MA. Metabolic myopathies: update 2009. J Clin Neuromuscul Dis 2009; 10:97. Kollberg G, Moslemi AR, Lindberg C, et al. Mitochondrial myopathy and rhabdomyolysis associated with a novel nonsense mutation in the gene encoding cytochrome c oxidase subunit I. J Neuropathol Exp Neurol 2005; 64:123. Kwon JH, Kim JS. Rhabdomyolysis in a patient with MELAS syndrome. Eur Neurol 2003; 50:123. McFarland R, Taylor RW, Chinnery PF, et al. A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis. Neuromuscul Disord 2004; 14:162. Tein I, DiMauro S, DeVivo DC. Recurrent childhood myoglobinuria. Adv Pediatr 1990; 37:77. Tonin P, Lewis P, Servidei S, DiMauro S. Metabolic causes of myoglobinuria. Ann Neurol 1990; 27:181.

referencesuptodate· REFERENCES· item f0_56_905

McFarland R, Taylor RW, Chinnery PF, et al. A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis. Neuromuscul Disord 2004; 14:162. Tein I, DiMauro S, DeVivo DC. Recurrent childhood myoglobinuria. Adv Pediatr 1990; 37:77. Tonin P, Lewis P, Servidei S, DiMauro S. Metabolic causes of myoglobinuria. Ann Neurol 1990; 27:181. Aboumousa A, Hoogendijk J, Charlton R, et al. Caveolinopathy--new mutations and additional symptoms. Neuromuscul Disord 2008; 18:572. Griggs, R, Mendell, J, Miller, R. Metabolic myopathies. In: Evaluation and Treatment of Myopathies, Griggs, R, Mendell, J, Miller, R (Eds), FA Davis, Philadelphia 1995. p.247. Das AM, Steuerwald U, Illsinger S. Inborn errors of energy metabolism associated with myopathies. J Biomed Biotechnol 2010; 2010:340849. Vockley J. The changing face of disorders of fatty acid oxidation. Mayo Clin Proc 1994; 69:249. Mortensen PB, Gregersen N. The biological origin of ketotic dicarboxylic aciduria. II. In vivo and in vitro investigations of the beta-oxidation of C8-C16-dicarboxylic acids in unstarved, starved and diabetic rats. Biochim Biophys Acta 1982; 710:477. DiMauro S, Tsujino S. Nonlysosomal glycogenoses. In: Myology, Engel A, Banker B (Eds), McGraw-Hill, New York 1994. p.1554. Hogrel JY, Laforêt P, Ben Yaou R, et al. A non-ischemic forearm exercise test for the screening of patients with exercise intolerance. Neurology 2001; 56:1733. Kazemi-Esfarjani P, Skomorowska E, Jensen TD, et al. A nonischemic forearm exercise test for McArdle disease. Ann Neurol 2002; 52:153. Hanisch F, Eger K, Bork S, et al. Lactate production upon short-term non-ischemic forearm exercise in mitochondrial disorders and other myopathies. J Neurol 2006; 253:735. Lindner A, Reichert N, Eichhorn M, Zierz S. Acute compartment syndrome after forearm ischemic work test in a patient with McArdle's disease. Neurology 2001; 56:1779. Bruno, C, Hays, AP, DiMauro, S. Glycogen storage diseases of muscle. In: Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician's Approach, Jones, HR Jr, De Vivo, DC, Darras, BT (Eds), Butterworth Heinemann, Philadelphia 2003. p.813. Ørngreen MC, Schelhaas HJ, Jeppesen TD, et al. Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency? Neurology 2008; 70:1876. Haller RG. Fueling around with glycogen: the implications of muscle phosphorylase b kinase deficiency. Neurology 2008; 70:1872.

referencesuptodate· REFERENCES· item f0_56_905

Bruno, C, Hays, AP, DiMauro, S. Glycogen storage diseases of muscle. In: Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician's Approach, Jones, HR Jr, De Vivo, DC, Darras, BT (Eds), Butterworth Heinemann, Philadelphia 2003. p.813. Ørngreen MC, Schelhaas HJ, Jeppesen TD, et al. Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency? Neurology 2008; 70:1876. Haller RG. Fueling around with glycogen: the implications of muscle phosphorylase b kinase deficiency. Neurology 2008; 70:1872. Jensen TD, Kazemi-Esfarjani P, Skomorowska E, Vissing J. A forearm exercise screening test for mitochondrial myopathy. Neurology 2002; 58:1533. Topic 6193 Version 8.0 © 2013 UpToDate, Inc. All rights reserved. | Subscription and License Agreement | Release: 21.6- C21.56 Licensed to: AsanBook Dig. Med. Lib. | Support Tag: [0604-203.80.222.8-E8883B2495-S244013.14]