Literature DB >> 1383605

3-Methylglutaconyl-coenzyme-A hydratase deficiency: a new case.

K M Gibson1, C F Lee, R S Wappner.   

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Year:  1992        PMID： 1383605     DOI： 10.1007/bf02435977

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  7 in total

1.  3-Methylglutaconic aciduria with persistent metabolic acidosis and 'uncoupling episodes'.

Authors:  O N Elpeleg; D Meiron; V Barash; Y Hurwitz; I Tal; N Amir
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

2.  Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency presenting as a Reye syndrome-like illness.

Authors:  E M Layward; M S Tanner; R J Pollitt; K Bartlett
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

3.  A familial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegia.

Authors:  H Costeff; N Gadoth; N Apter; M Prialnic; H Savir
Journal:  Neurology       Date:  1989-04       Impact factor: 9.910

4.  Deficiency of 3-methylglutaconyl-coenzyme A hydratase in two siblings with 3-methylglutaconic aciduria.

Authors:  K Narisawa; K M Gibson; L Sweetman; W L Nyhan; M Duran; S K Wadman
Journal:  J Clin Invest       Date:  1986-04       Impact factor: 14.808

5.  3-Methylglutaconic aciduria: a phenotype in which activity of 3-methylglutaconyl-coenzyme A hydratase is normal.

Authors:  K M Gibson; W L Nyhan; L Sweetman; K Narisawa; W Lehnert; P Divry; B H Robinson; K S Roth; F A Beemer; F J van Sprang
Journal:  Eur J Pediatr       Date:  1988-10       Impact factor: 3.183

6.  3-Hydroxy-3-methylglutaryl-CoA lyase deficiency as detected by radiochemical assay in cell extracts by thin-layer chromatography, and identification of three new cases.

Authors:  K M Gibson; C F Lee; V Kamali; K Johnston; A L Beaudet; W J Craigen; B R Powell; R Schwartz; M Y Tsai; M Tuchman
Journal:  Clin Chem       Date:  1990-02       Impact factor: 8.327

7.  3-Methylglutaconyl-CoA hydratase, 3-methylcrotonyl-CoA carboxylase and 3-hydroxy-3-methylglutaryl-CoA lyase deficiencies: a coupled enzyme assay useful for their detection.

Authors:  K Narisawa; K M Gibson; L Sweetman; W L Nyhan
Journal:  Clin Chim Acta       Date:  1989-09-15       Impact factor: 3.786
  7 in total
  9 in total

1.  3-Methylglutaconic aciduria and hypermethioninaemia in a child with clinical and neuroradiological findings of Leigh disease.

Authors:  M Di Rocco; U Caruso; I Moroni; S Lupino; E Lamantea; A R Fantasia; C Borrone; K M Gibson
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982

2.  3-Methylglutaconic aciduria type I: clinical heterogeneity as a neurometabolic disease.

Authors:  Y Shoji; T Takahashi; Y Sawaishi; A Ishida; M Matsumori; Y Shoji; M Enoki; H Watanabe; G Takada
Journal:  J Inherit Metab Dis       Date:  1999-02       Impact factor: 4.982

3.  3-Methylglutaconyl-CoA hydratase deficiency: a new patient with speech retardation as the leading sign.

Authors:  R Ensenauer; C B Müller; K O Schwab; K M Gibson; M Brandis; W Lehnert
Journal:  J Inherit Metab Dis       Date:  2000-06       Impact factor: 4.982

4.  Variable clinical presentation in three patients with 3-methylglutaconyl-coenzyme A hydratase deficiency.

Authors:  K M Gibson; R S Wappner; S Jooste; E Erasmus; L J Mienie; E Gerlo; B Desprechins; L De Meirleir
Journal:  J Inherit Metab Dis       Date:  1998-08       Impact factor: 4.982

5.  3-Methylglutaconic aciduria presenting as Reye syndrome in a Chinese boy.

Authors:  J W Hou; T R Wang
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

6.  3-Methylglutaconic aciduria type I is caused by mutations in AUH.

Authors:  Lodewijk IJlst; Ference J Loupatty; Jos P N Ruiter; Marinus Duran; Willy Lehnert; Ronald J A Wanders
Journal:  Am J Hum Genet       Date:  2002-11-14       Impact factor: 11.025

7.  Urinary organic acid screening in children with developmental language delay.

Authors:  M Michelson; S Harel; A Gutman; T Lerman-Sagie
Journal:  J Inherit Metab Dis       Date:  1999-10       Impact factor: 4.982

Review 8.  3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature.

Authors:  Francesca Nardecchia; Anna Caciotti; Teresa Giovanniello; Sabrina De Leo; Lorenzo Ferri; Serena Galosi; Silvia Santagata; Barbara Torres; Laura Bernardini; Claudia Carducci; Amelia Morrone; Vincenzo Leuzzi
Journal:  Int J Mol Sci       Date:  2022-04-16       Impact factor: 6.208

Review 9.  Screening for defects of branched-chain amino acid metabolism.

Authors:  K M Gibson; C F Lee; G F Hoffmann
Journal:  Eur J Pediatr       Date:  1994       Impact factor: 3.183
  9 in total

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