Enfermedades mitocondriales - Asociación Española para el ...
Enfermedades mitocondriales - Asociación Española para el ...
Enfermedades mitocondriales - Asociación Española para el ...
Create successful ePaper yourself
Turn your PDF publications into a flip-book with our unique Google optimized e-Paper software.
<strong>Enfermedades</strong> <strong>mitocondriales</strong><br />
mentation restores cytochrome c oxidase activity in cultured<br />
c<strong>el</strong>ls from patients with SCO2 mutations. Biochem<br />
J. 2002 Apr 15;363(Pt 2):321-7.<br />
91. DiMauro S, Mancuso M, Naini A. Mitochondrial encephalomyopathies.<br />
Therapeutic approach. Ann N.Y. Sci<br />
2004; 1011:232-245.<br />
92. PW Stacpoole, RG Thomas, EM Harman. Dichloroacetate<br />
in the treatment of lactic acidosis. Ann Intern Med. 1988;<br />
108: 58-63.<br />
93. Barshop BA, Naviaux RK, McGowan KA, Levine F,<br />
Nyhan WL, Loupis-G<strong>el</strong>ler A, Haas RH. Chronic treatment<br />
of mitochondrial disease patients with dichloroacetate.<br />
Mol Genet Metab. 2004 Sep-Oct; 83(1-2):138-49.<br />
94. M. Pineda, MA Vilaseca, E. Cardo. Management of<br />
Paediatric Metabolic Emergencies in ITU. Care Critically<br />
Ill 1998; 14, 8: 271-274.<br />
95. Allen RJ, DiMauro S, Coulter DL, Papadimitriou A,<br />
Rothenberg SP. Kearns-Sayre syndrome with reduced<br />
plasma and cerebrospinal fluid folate. Ann Neurol. 1983<br />
Jun; 13 (6):679-82.<br />
96. Pineda M, Ormazabal A, López-Gallardo E, Nascimento A,<br />
Solano A, Herrero M D, Vilaseca M A, Briones P, Ibáñez<br />
L, Montoya J, Artuch R. Cerebral folate deficiency and<br />
leukoencephalopathy caused by a mitochondrial DNA<br />
d<strong>el</strong>etion. 20005 in press<br />
97. Bindoff LA. Treatment of mitochondrial disorders: practical<br />
and theoretical issues. Europ. J Pediatric Neurol.<br />
1999; 3: 201-208.<br />
98. Cohen J, Scott R, Schimm<strong>el</strong> R, et al. Birth of an infant after<br />
transfer of anuclete donor oocyte cytoplasm into recipient<br />
eggs. Lancet 1997; 350: 186-187.<br />
99. Carroll P V, Umplembey A M, Albany E, Jackson N C,<br />
Morgan-Hughes J A, Sonsken P H, Russ<strong>el</strong>-Jones D L.<br />
Growth hormone therapy may benefit protein metabolism<br />
in mitochondrial encephalomyopathy. Clin<br />
Endocrin 1997, 47; 113-117.<br />
100. Wijburg F A, Barth P G, Bindoff L A et al. Leigh syndrome<br />
associated with a deficiency of the pyruvate dehydrogenase<br />
complex: results of treatment with a ketogenic diet.<br />
Neuropediatrics. 1992, 23; 147-152.<br />
101. Taivassalo T, Matthews P M, De Stefano N, Sripathi N,<br />
Genge A, Karpati G, Arnold DL. Combined aerobic training<br />
and dicloroacetate improve exercise capacity and indices<br />
of aerobic metabolism in muscle cytocrome c oxidase<br />
deficiency. Neurol. 1996, 47; 529-534.<br />
430