Aplasia of the retinal vessels combined with optic nerve hypoplasia, neonatal epileptic seizures, and lactic acidosis due to mitochondrial complex I deficiency-Reference-Cited by-同舟云学术

Aplasia of the retinal vessels combined with optic nerve hypoplasia, neonatal epileptic seizures, and lactic acidosis due to mitochondrial complex I deficiency

Published:1992-07 Issue:7 Volume:151 Page:519-521
ISSN:0340-6199
Container-title:European Journal of Pediatrics
language:en
Short-container-title:Eur J Pediatr

Author:

Boor R.,Rochels R.,Walther B.,Reitter B.

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

Link

http://link.springer.com/content/pdf/10.1007/BF01957758.pdf

Reference20 articles.

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2. Asano K, Miyamoto I, Matsushita T, Murakami Y, Minoura S, Wagatsuma T, Oshima M (1988) Succinic acidemia: a new syndrome of organic acidemia associated with congenital lactic acidosis and decreased NADH-cytochrome c reductase activity. Clin Chim Acta 173:305–312

3. Fischer JC, Ruitenbeek W, Gabreels FJM, Janssen AJM, Renier WO, Sengers RCA, Stadhouders AM, Laak HJ ter, Trijbels JMF, Veerkamp JH (1986) A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme. Q Eur J Pediatr 144:441–444

4. Hackenbruch Y, Meerhoff E, Besio R, Cardoso H (1975) Familial bilateral optic nerve hypoplasia. Am J Ophthalmol 79:314–320

5. Hittner HM, Desmond MM, Montgomery JR (1976) Optic nerve manifestations of human congenital cytomegalovirus infection. Am J Ophthalmol 81:661–665

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