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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
- ... 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 ...
- ... 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, ...
- ... with nephronophthisis have additional features, which can include liver fibrosis, heart abnormalities, or mirror image reversal of the position of one or more organs inside the body (situs inversus).Nephronophthisis can occur as part of separate syndromes that affect other areas of the body; these ...