Title: Intrafamilial variability for novel TAZ gene mutation: Barth syndrome with dilated cardiomyopathy and heart failure in an infant and left ventricular noncompaction in his great-uncle.
Journal: Molecular genetics and metabolism 20121101
Title: No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome.
Journal: Journal of inherited metabolic disease 20120901
Title: POLG mutation in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis and 3-methylglutaconic aciduria.
Journal: Gene 20120510
Title: The 3-methylglutaconic acidurias: what's new?
Journal: Journal of inherited metabolic disease 20120101
Title: Phenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel intragenic deletion.
Journal: Molecular genetics and metabolism 20111101
Title: Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria.
Journal: Clinical genetics 20110901
Title: Neurochemical evidence that 3-methylglutaric acid inhibits synaptic Na+,K+-ATPase activity probably through oxidative damage in brain cortex of young rats.
Journal: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 20110201
Title: Increased reactive oxygen species (ROS) production and low catalase level in fibroblasts of a girl with MEGDEL association (Leigh syndrome, deafness, 3-methylglutaconic aciduria).
Journal: Folia neuropathologica 20110101
Title: A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3.
Journal: Development (Cambridge, England) 20100801
Title: OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria.
Journal: Molecular genetics and metabolism 20100601
Title: Oxidative stress-dependent p66Shc phosphorylation in skin fibroblasts of children with mitochondrial disorders.
Journal: Biochimica et biophysica acta 20100101
Title: Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70.
Journal: Molecular genetics and metabolism 20100101
Title: Striatum is more vulnerable to oxidative damage induced by the metabolites accumulating in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency as compared to liver.
Journal: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 20090601
Title: Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy.
Journal: Brain : a journal of neurology 20090101
Title: Costeff optic atrophy syndrome: new clinical case and novel molecular findings.
Journal: Journal of inherited metabolic disease 20081201
Title: Induction of oxidative stress by the metabolites accumulating in 3-methylglutaconic aciduria in cerebral cortex of young rats.
Journal: Life sciences 20080312
Title: A missense mutation in the murine Opa3 gene models human Costeff syndrome.
Journal: Brain : a journal of neurology 20080201
Title: Barth syndrome is associated with a cognitive phenotype.
Journal: Journal of developmental and behavioral pediatrics : JDBP 20070201
Title: 3-methylglutaconic aciduria type 4 manifesting as Leigh syndrome in 2 siblings.
Journal: Journal of child neurology 20070201
Title: 3-Methylglutaconic aciduria type I causes leukoencephalopathy of adult onset.
Journal: Neurology 20061128
Title: Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria.
Journal: Journal of inherited metabolic disease 20060801
Title: Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation.
Journal: Molecular genetics and metabolism 20060501
Title: Microsphere-based protease assays and screening application for lethal factor and factor Xa.
Journal: Cytometry. Part A : the journal of the International Society for Analytical Cytology 20060501
Title: Biochemical characterization of human 3-methylglutaconyl-CoA hydratase and its role in leucine metabolism.
Journal: The FEBS journal 20060501
Title: NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism.
Journal: NMR in biomedicine 20060401
Title: 3-methylglutaconic aciduria disorders: the clinical spectrum increases.
Journal: Journal of pediatric hematology/oncology 20060201
Title: A molecular lesion in a Japanese patient with severe phenotype of 3-methylglutaconic aciduria type I.
Journal: Pediatrics international : official journal of the Japan Pediatric Society 20051201
Title: A biosynthetic pathway to isovaleryl-CoA in myxobacteria: the involvement of the mevalonate pathway.
Journal: Chembiochem : a European journal of chemical biology 20050201
Title: 3-Methylglutaconic aciduria: a common biochemical marker in various syndromes with diverse clinical features.
Journal: Molecular genetics and metabolism 20050101
Title: OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria.
Journal: Journal of inherited metabolic disease 20050101
Title: 3-methylglutaconic aciduria type I in a boy with fever-associated seizures.
Journal: Pediatric neurology 20040301
Title: Barth syndrome without 3-methylglutaconic aciduria.
Journal: Acta paediatrica (Oslo, Norway : 1992) 20040301
Title: Phospholipid abnormalities in children with Barth syndrome.
Journal: Journal of the American College of Cardiology 20031203
Title: Long-term treatment of Barth syndrome with pantothenic acid: a retrospective study.
Journal: Molecular genetics and metabolism 20031201
Title: Mutations in the AUH gene cause 3-methylglutaconic aciduria type I.
Journal: Human mutation 20030401
Title: Little known killer: Barth syndrome.
Journal: South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde 20030401
Title: 3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings.
Journal: Molecular genetics and metabolism 20020701
Title: Novel missense mutation (R94S) in the TAZ ( G4.5) gene in a Japanese patient with Barth syndrome.
Journal: Journal of human genetics 20020101
Title: Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism.
Journal: BMC pediatrics 20020101
Title: Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews.
Journal: American journal of human genetics 20011201
Title: Preliminary evidence for a cognitive phenotype in Barth syndrome.
Journal: American journal of medical genetics 20010901
Title: Mitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduria.
Journal: Journal of child neurology 20010201
