|1|Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria. (25650066)
Capo-Chichi J.M.... Michaud J.L.
|2|Clinical manifestations and enzymatic activities of mitochondrial respiratory chain complexes in Pearson marrow-pancreas syndrome with 3-methylglutaconic aciduria: a case report and literature review. (26074369)
Sato T.... Adachi M.
|3|The neuropsychological profile of patients with 3-methylglutaconic aciduria type III, Costeff syndrome. (25657044)
Sofer S.... Hassin-Baer S.
|4|CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. (25597510)
Wortmann S.B.... Wevers R.A.
|5|Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria. (24749080)
Lam C.... Huizing M.
|6|Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect. (24757000)
Wortmann S.B.... Morava E.
|7|Mild form of 3-methylglutaconic aciduria type IV and mutation in the TMEM70 genes. (23382305)
StojanoviA8 V.... Doronjski A.
|8|Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1. (23918762)
Sarig O.... Mandel H.
|9|Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria. (23707711)
Tort F.... Ribes A.
|10|Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature. (23296368)
Wortmann S.B.... Wevers R.A.
|11|Phenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel intragenic deletion. (21840233)
Mercimek-Mahmutoglu S.... Casey B.
|12|Increased reactive oxygen species (ROS) production and low catalase level in fibroblasts of a girl with MEGDEL association (Leigh syndrome, deafness, 3-methylglutaconic aciduria). (21455844)
Karkucinska-Wieckowska A.... Pronicka E.
|13|OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria. (20350831)
Huizing M.... Anikster Y.
|14|Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70. (20728387)
Shchelochkov O.A.... Scaglia F.
|15|Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy. (19015156)
Wortmann S.B.... Morava E.
|16|NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism. (16541463)
Engelke U.F.... Wevers R.A.
|17|Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria. (16736096)
Di Rosa G.... Dionisi-Vici C.
|18|3-methylglutaconic aciduria disorders: the clinical spectrum increases. (16462574)
Arn P.... Funanage V.L.
|19|Myeloid dysplasia in familial 3-methylglutaconic aciduria. (16462576)
Haimi M.... Mandel H.
|20|OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria. (15902555)
Neas K.... Christodoulou J.
|21|Barth syndrome without 3-methylglutaconic aciduria. (15124852)
Schmidt M.R.... Sunde L.
|22|Mutations in the AUH gene cause 3-methylglutaconic aciduria type I. (12655555)
Ly T.B.N.... Zschocke J.
|23|Nephrocalcinosis and medullary cysts in 3-methylglutaconic aciduria. (12750979)
Laube G.F.... Van't Hoff W.G.
|24|3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings. (12126933)
Kleta R.... Anikster Y.
|25|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. (11668429)
Anikster Y.... Elpeleg O.
|26|A case of 3-methylglutaconic aciduria misdiagnosed as cerebral palsy. (11118804)
Pantaleoni C.... Riva D.
|27|3-Methylglutaconic aciduria and hypermethioninaemia in a child with clinical and neuroradiological findings of Leigh disease. (10399091)
Di Rocco M.... Gibson K.M.
|28|MRI in 3-methylglutaconic aciduria type 1. (10639672)
Arbelaez A.... Stone J.
|29|18Fluoro-2-deoxyglucose (18FDG) PET scan of the brain in type IV 3-methylglutaconic aciduria: clinical and MRI correlations. (10082249)
Al-Essa M.... Ozand P.T.
|30|3-Methylglutaconic aciduria in pregnancy. (9074583)
Walsh R.... Mayne P.D.
|31|Prenatal clinical expression of 3-methylglutaconic aciduria: Barth syndrome. (9358581)
Cardonick E.H.... Pagotto L.T.
|32|Maternal 3-methylglutaconic aciduria associated with abnormalities in offspring. (8826820)
de Koning T.J.... Poll-The B.T.
|33|3-Methylglutaconic aciduria, type 3. (7573769)
Costeff H.... Elpeleg O.N.
|34|Dilated cardiomyopathy with 3-methylglutaconic aciduria. (7997421)
Draaisma J.M.... Sengers R.C.
|35|Dilated cardiomyopathy due to type II X-linked 3-methylglutaconic aciduria: successful treatment with pantothenic acid. (7833193)
Ostman-Smith I.... Land J.M.
|36|3-Methylglutaconic aciduria: ten new cases with a possible new phenotype. (7726378)
l Aqeel A.... Dabbagh O.
|37|3-Methylglutaconic aciduria in the Iraqi-Jewish 'optic atrophy plus' (Costeff) syndrome. (7510656)
Elpeleg O.N.... Gibson K.M.
|38|Multiple respiratory chain abnormalities associated with hypertrophic cardiomyopathy and 3-methylglutaconic aciduria. (7691603)
Ibel H.... Gibson K.M.
|39|3-Methylglutaconic aciduria in "optic atrophy plus". (8494328)
Costeff H.... Gadoth N.
|40|OPA3-Related 3-Methylglutaconic Aciduria (20301646)
Pagon R.A.... Stephens K.
|41|3-Methylglutaconic aciduria in a patient with Pearson syndrome. (8482296)
Lichter-Konecki U.... Bremer H.J.
|42|3-Methylglutaconic aciduria: a new variant. (1594352)
Zeharia A.... Mimouni M.
|43|3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects. (1447663)
Gibson K.M.... Trefz F.K.
|44|Behr's syndrome and 3-methylglutaconic aciduria. (1384336)
Sheffer R.N.... Ben-Ezra D.
|45|Mitochondrial ATP-synthase deficiency in a child with 3-methylglutaconic aciduria. (1287564)
Holme E.... Tulinius M.
|46|X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria. (1719174)
Kelley R.I.... Swisher W.P.
|47|Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria. (1710267)
Gibson K.M.... Schrynemackers-Pitance P.
|48|3-Methylglutaconic aciduria with persistent metabolic acidosis and 'uncoupling episodes'. (2116558)
Elpeleg O.N.... Amir N.
|49|Inherited 3-methylglutaconic aciduria in two brothers--another defect of leucine metabolism. (6181239)
Duran M.... Wadman S.K.
|50|3-Hydroxy-3-methylglutaric aciduria, combined with 3-methylglutaconic aciduria. (947633)
Wysocki S.J.... Panegyres P.K.