Literature DB >> 9762598

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

K M Gibson1, R S Wappner, S Jooste, E Erasmus, L J Mienie, E Gerlo, B Desprechins, L De Meirleir.   

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Year:  1998        PMID： 9762598     DOI： 10.1023/a:1005476315892

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


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  8 in total

1.  3-Methylglutaconyl-coenzyme-A hydratase deficiency: a new case.

Authors:  K M Gibson; C F Lee; R S Wappner
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

2.  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

3.  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

Review 4.  Multiple syndromes of 3-methylglutaconic aciduria.

Authors:  K M Gibson; O N Elpeleg; C Jakobs; H Costeff; R I Kelley
Journal:  Pediatr Neurol       Date:  1993 Mar-Apr       Impact factor: 3.372

5.  Fatal cardiomyopathy associated with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

Authors:  K M Gibson; S B Cassidy; L H Seaver; R J Wanders; N G Kennaway; G A Mitchell; R P Spark
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

6.  Inherited 3-methylglutaconic aciduria in two brothers--another defect of leucine metabolism.

Authors:  M Duran; F A Beemer; A S Tibosch; L Bruinvis; D Ketting; S K Wadman
Journal:  J Pediatr       Date:  1982-10       Impact factor: 4.406

7.  The detection of 3-methylglutarylcarnitine and a new dicarboxylic conjugate, 3-methylglutaconylcarnitine, in 3-methylglutaconic aciduria.

Authors:  S Jooste; E Erasmus; L J Mienie; W J de Wet; K M Gibson
Journal:  Clin Chim Acta       Date:  1994-10-14       Impact factor: 3.786

8.  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
  8 in total
  6 in total

1.  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

2.  [Newborn screening as a predictive genetic test: principles and challenges].

Authors:  Johannes Zschocke
Journal:  Wien Med Wochenschr       Date:  2012-03-28

3.  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

Review 4.  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

5.  3-methyglutaconic aciduria in a Chinese patient with glycogen storage disease Ib.

Authors:  L K Law; N L S Tang; J Hui; C W K Lam; T F Fok
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

Review 6.  The 3-methylglutaconic acidurias: what's new?

Authors:  Saskia B Wortmann; Leo A Kluijtmans; Udo F H Engelke; Ron A Wevers; Eva Morava
Journal:  J Inherit Metab Dis       Date:  2010-09-30       Impact factor: 4.982
  6 in total

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