methylglutaconic - Robuta Search

https://pubmed.ncbi.nlm.nih.gov/21840233/ Phenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel... We describe two siblings with 3-methylglutaconic aciduria type I with phenotypic heterogeneity. The index case was a 14-year-old female with learning... https://disorders.eyes.arizona.edu/references/type-iii-3-methylglutaconic-aciduria-optic-atrophy-plus-syndrome-or-costeff-optic-atrophy Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy... type iii optic atrophy https://rarediseases.info.nih.gov/diseases/5890/3-methylglutaconic-aciduria-type-2 3-Methylglutaconic aciduria type 2 | About the Disease | GARD Find symptoms and other information about 3-Methylglutaconic aciduria type 2. about the disease type gard https://pubmed.ncbi.nlm.nih.gov/?term=%28%283-methylglutaconyl-coa+hydratase+deficiency%5BTIAB%5D%29+OR+%283-methylglutaconic+aciduria+type+I%5BTIAB%5D%29%29+AND+english%5Bla%5D+AND+human%5Bmh%5D+AND+%22last+3600+days%22%5Bdp%5D ((3-methylglutaconyl-coa hydratase deficiency[TIAB]) OR (3-methylglutaconic aciduria type I[TIAB]))... ((3-methylglutaconyl-coa hydratase deficiency[TIAB]) OR (3-methylglutaconic aciduria type I[TIAB])) AND english[la] AND human[mh] AND "last 3600 days"[dp] -... coa deficiency