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Infantile liver failure syndrome 2
- ... in the liver and brain lead to the liver failure and neurological dysfunction associated with MPV17-related hepatocerebral mitochondrial DNA depletion syndrome. Researchers suggest that the less mtDNA that is ...
- ... sici)1096-8628(19970211)68:43.0.co;2-p. Citation on PubMed
- ... an enlarged liver (hepatomegaly), which may lead to liver failure. Most ... known as Leigh syndrome. The signs and symptoms of Leigh syndrome include ...
- ... of the condition. Deficiency of cathepsin A Goldberg syndrome Lysosomal ... van der Hoeven M, Bakker J, Campos Y, d'Azzo A. New mutations in two Dutch patients with early infantile galactosialidosis. Mol Genet Metab. 2003 Mar;78(3): ...
- ... Manov I, Saada A, Sprecher E, Mandel H. Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, ...
- ... age at which ESRD begins: around age 1 (infantile), around age 13 (juvenile), ... include liver fibrosis, heart abnormalities, or mirror image reversal of ...