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Quoted phrase not found in phrase index: "3-methylglutaconic aciduria type 8"
Page 1
Mutation characterization and genotype-phenotype correlation in Barth syndrome.
Johnston J, Kelley RI, Feigenbaum A, Cox GF, Iyer GS, Funanage VL, Proujansky R. Johnston J, et al. Am J Hum Genet. 1997 Nov;61(5):1053-8. doi: 10.1086/301604. Am J Hum Genet. 1997. PMID: 9345098 Free PMC article.
Barth syndrome is an X-linked cardiomyopathy with neutropenia and 3-methylglutaconic aciduria. Recently, mutations in the G4.5 gene, located in Xq28, have been described in four probands with Barth syndrome. We have now evaluated 14 Barth syndrome pedigrees f …
Barth syndrome is an X-linked cardiomyopathy with neutropenia and 3-methylglutaconic aciduria. Recently, mutations in t …
Comparative frequency and severity of hypoglycemia in selected organic acidemias, branched chain amino acidemia, and disorders of fructose metabolism.
Worthen HG, al Ashwal A, Ozand PT, Garawi S, Rahbeeni Z, al Odaib A, Subramanyam SB, Rashed M. Worthen HG, et al. Brain Dev. 1994 Nov;16 Suppl:81-5. doi: 10.1016/0387-7604(94)90100-7. Brain Dev. 1994. PMID: 7726385 Clinical Trial.
Organic acidemias which primarily manifest with neurologic signs, such as 4-hydroxybutyric aciduria, infantile onset 3-methylglutaconic aciduria, and glutaric aciduria type 1 never showed hypoglycemia. ...On the other hand, patients with 3-hydroxy-3-me …
Organic acidemias which primarily manifest with neurologic signs, such as 4-hydroxybutyric aciduria, infantile onset 3-methylgluta …