Literature DB >> 10896289

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

R Ensenauer1, C B Müller, K O Schwab, K M Gibson, M Brandis, W Lehnert.   

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Year:  2000        PMID： 10896289     DOI： 10.1023/a:1005670911799

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


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  10 in total

1.  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

2.  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

3.  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

4.  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

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

Review 6.  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

7.  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

8.  Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria.

Authors:  K M Gibson; W G Sherwood; G F Hoffman; D A Stumpf; I Dianzani; R B Schutgens; P G Barth; U Weismann; C Bachmann; P Schrynemackers-Pitance
Journal:  J Pediatr       Date:  1991-06       Impact factor: 4.406

9.  Long-term results of selective screening for inborn errors of metabolism.

Authors:  W Lehnert
Journal:  Eur J Pediatr       Date:  1994       Impact factor: 3.183

10.  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
  10 in total
  6 in total

1.  Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect.

Authors:  Saskia B Wortmann; Leo A J Kluijtmans; Silvia Sequeira; Ron A Wevers; Eva Morava
Journal:  JIMD Rep       Date:  2014-04-23

2.  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

3.  CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria.

Authors:  Carol Saunders; Laurie Smith; Flemming Wibrand; Kirstine Ravn; Peter Bross; Isabelle Thiffault; Mette Christensen; Andrea Atherton; Emily Farrow; Neil Miller; Stephen F Kingsmore; Elsebet Ostergaard
Journal:  Am J Hum Genet       Date:  2015-01-15       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

Review 5.  In Vivo NMR Studies of the Brain with Hereditary or Acquired Metabolic Disorders.

Authors:  Erica B Sherry; Phil Lee; In-Young Choi
Journal:  Neurochem Res       Date:  2015-11-26       Impact factor: 3.996

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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