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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 ...
- Genetic Brain Disorders/Specifics ... Genetic Brain Disorders ... Leukodystrophies/Specifics ... Leukodystrophies ... Tay-Sachs Disease/Related Issues ... Tay-Sachs Disease ... Lipid ...
- ... 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): ...
- Defines two types of polycystic kidney disease and describes their genetic origins, symptoms, diagnosis, and treatment, as well as ongoing research. ... Polycystic ...
- ... 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, ...
- ... When corticotropin repository injection is used to treat infantile spasms, it is usually injected into a muscle twice a day for two weeks and then injected on a gradually decreasing ...
- ... 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 ...