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3-Methylglutaconic aciduria
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1	Microsoft Word[removed]sheet 1.doc Add to Reading List Source URL: www.cdph.ca.gov Language: English - Date: 2013-09-30 16:56:07 Genetic genealogy Newborn screening Methylmalonic acidemia Isovaleric acidemia Fatty-acid metabolism disorder Hyperammonemia 3-Methylglutaconic aciduria Glutaric aciduria type 1 Medium-chain acyl-coenzyme A dehydrogenase deficiency Health Medicine Rare diseases
2	Climb National Information Centre for Metabolic Diseases Methylglutaconic Aciduria[removed]Type 2 Other names that may be used for this disorder are: • Barth Syndrome • Cardioskeletal Myopathy with Neutropenia and Abno Add to Reading List Source URL: www.climb.org.uk Language: English - Date: 2014-03-19 09:27:20 Barth syndrome Anatomy Myopathy Mitochondrion Mitochondrial disease Neutropenia Cardiolipin Endocardial fibroelastosis Health Biology 3-Methylglutaconic aciduria
3	sensitivity legend sensitivity >= 95% sensitivity >= 95% but with problem exons sensitivity 75-95% sensitivity < 75% mutation spectrum not well defined Add to Reading List Source URL: www.childrensmercy.org Language: English - Date: 2013-01-24 13:42:29 Genetics Genodermatoses Rare diseases Syndromes X-linked recessive inheritance 3-Methylglutaconic aciduria Congenital muscular dystrophy Epidermolysis bullosa Carnitine palmitoyltransferase II deficiency Health Medicine Genetic genealogy
4	Disease Name: 3-METHYLGLUTACONIC ACIDURIA TYPE II (X-LINKED CARIOSKELATAL MYOPATHY, NEUTROPENIA & ABNORMAL MITOCHONDRIA) (BARTH SYNDROME; MGA, TYPE II) Add to Reading List Source URL: public.health.oregon.gov Language: English - Date: 2011-01-16 02:53:01 Methylglutaconyl-CoA hydratase Tafazzin Barth syndrome 3-Methylglutaconic acid Inborn error of metabolism Biology 3-Methylglutaconic aciduria OPA3
5	Title: MEGDEL Syndrome GeneReview – Table 3 with Additional Protein Information Authors: Wortmann SB, De Brouwer APM, Wevers RA, Morava E Date: April 2014 Add to Reading List Source URL: www.ncbi.nlm.nih.gov Language: English 3-Methylglutaconic aciduria Methylglutaconyl-CoA hydratase Tafazzin Barth syndrome Mitochondrion Cardiolipin OPA3 Dysmorphic feature Phosphatidylglycerol Biology Membrane biology Phospholipids
6	Title: MEGDEL Syndrome GeneReview Table 4 Authors: Wortmann SB, De Brouwer APM, Wevers RA, Morava E Date: April 2014 Add to Reading List Source URL: www.ncbi.nlm.nih.gov Language: English RNA splicing Spliceosome 3-Methylglutaconic aciduria Genetics Biology Gene expression