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Results 1 - 10 of 11 for "3-Methylglutaconic" aciduria
  1. ... substance called 3-methylglutaconic acid in the urine (3-methylglutaconic aciduria). This abnormality, which provides a clue to the ... not show signs and symptoms of the condition. 3-methylglutaconic aciduria type 7 3-methylglutaconic aciduria type VII 3- ...
  2. ... substance called 3-methylglutaconic acid in the urine (3-methylglutaconic aciduria). The amount of this substance does not appear ... that can be diagnosed by the presence of 3-methylglutaconic aciduria. People with Costeff syndrome also have high levels ...
  3. ... It is named for several of its features: 3-methylglutaconic aciduria (MEG), deafness (D), encephalopathy (E), and Leigh-like ... acid, called 3-methylglutaconic acid, in the urine (3-methylglutaconic aciduria). MEGDEL syndrome is one of a group of ...
  4. ... of increased levels 3-methylglutaconic acid in urine (3-methylglutaconic aciduria). People with 3-methylglutaconyl-CoA hydratase deficiency also ... not show signs and symptoms of the condition. 3-methylglutaconic aciduria, type I 3-MG-CoA-hydratase deficiency AUH ...
  5. ... increased levels of 3-methylglutaconic acid in urine (3-methylglutaconic aciduria). People with DCMA syndrome also have high urine ... not show signs and symptoms of the condition. 3-methylglutaconic aciduria type V DCMA DCMA syndrome DNAJC19 defect MGA ...
  6. ... increased levels of 3-methylglutaconic acid in urine (3-methylglutaconic aciduria).Even though most features of Barth syndrome are ... cannot pass X-linked traits to their sons. 3 methylglutaconic aciduria, type II 3-methylglutaconic aciduria type 2 BTHS ...
  7. ... Ruiter JP, Duran M, Lehnert W, Wanders RJ. 3-Methylglutaconic aciduria type I is caused by mutations in AUH. ... Zschocke J. Mutations in the AUH gene cause 3-methylglutaconic aciduria type I. Hum Mutat. 2003 Apr;21(4): ...
  8. ... is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria. J Med Genet. 2015 May;52(5):303- ... CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation. J ...
  9. ... Shaag A, Gahl WA, Elpeleg O. Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy ... B, Gahl WA, Anikster Y. OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to ...
  10. ... hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh- ... new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria. Mol Genet Metab. 2013 Sep-Oct;110(1- ...
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