Literature DB >> 7807935

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

K M Gibson1, S B Cassidy, L H Seaver, R J Wanders, N G Kennaway, G A Mitchell, R P Spark.   

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Year:  1994        PMID： 7807935     DOI： 10.1007/bf00711810

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


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  4 in total

1.  3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: report of five new patients.

Authors:  K M Gibson; J Breuer; K Kaiser; W L Nyhan; E E McCoy; P Ferreira; C L Greene; M G Blitzer; E Shapira; F Reverte
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

Review 2.  Biochemical diagnosis of genetic diseases.

Authors:  R S Wappner
Journal:  Pediatr Ann       Date:  1993-05       Impact factor: 1.132

3.  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

4.  3-Hydroxy-3-methylglutaryl-CoA lyase in human skin fibroblasts: study of its properties and deficient activity in 3-hydroxy-3-methylglutaric aciduria patients using a simple spectrophotometric method.

Authors:  R J Wanders; R B Schutgens; P H Zoeters
Journal:  Clin Chim Acta       Date:  1988-01-15       Impact factor: 3.786
  4 in total
  12 in total

1.  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

2.  A nonsense mutation in the 3-hydroxy-3-methylglutaryl-CoA lyase gene produces exon skipping in two patients of different origin with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

Authors:  J Pié; N Casals; C H Casale; C Buesa; C Mascaró; A Barceló; M O Rolland; T Zabot; D Haro; F Eyskens; P Divry; F G Hegardt
Journal:  Biochem J       Date:  1997-04-15       Impact factor: 3.857

3.  Increased oxidative stress in patients with 3-hydroxy-3-methylglutaric aciduria.

Authors:  Mariana Dos Santos Mello; Graziela Schmitt Ribas; Carlos Alberto Yasin Wayhs; Tatiane Hammerschmidt; Gilian Batista Balbueno Guerreiro; Jéssica Lamberty Favenzani; Ângela Sitta; Daniella de Moura Coelho; Moacir Wajner; Carmen Regla Vargas
Journal:  Mol Cell Biochem       Date:  2015-01-04       Impact factor: 3.396

4.  3-HMG Coenzyme A Lyase Deficiency: Macrocephaly and Left Ventricular Noncompaction with a Novel Mutation.

Authors:  Tülin Köksal; Mehmet Gündüz; Eda Özaydın; Emine Azak
Journal:  Indian J Pediatr       Date:  2015-02-25       Impact factor: 1.967

5.  Induction of a Proinflammatory Response in Cortical Astrocytes by the Major Metabolites Accumulating in HMG-CoA Lyase Deficiency: the Role of ERK Signaling Pathway in Cytokine Release.

Authors:  Carolina Gonçalves Fernandes; Marília Danyelle Nunes Rodrigues; Bianca Seminotti; Ana Laura Colín-González; Abel Santamaria; André Quincozes-Santos; Moacir Wajner
Journal:  Mol Neurobiol       Date:  2015-06-23       Impact factor: 5.590

Review 6.  Inborn errors of ketogenesis and ketone body utilization.

Authors:  Jörn Oliver Sass
Journal:  J Inherit Metab Dis       Date:  2011-04-09       Impact factor: 4.982

7.  3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: initial presentation in a young adult.

Authors:  S Reimão; C Morgado; I T Almeida; M Silva; H Corte Real; J Campos
Journal:  J Inherit Metab Dis       Date:  2009-02-24       Impact factor: 4.982

8.  Molecular basis of 3-hydroxy-3-methylglutaric aciduria.

Authors:  J Pie; N Casals; B Puisac; F G Hegardt
Journal:  J Physiol Biochem       Date:  2003-12       Impact factor: 4.158

9.  Differential HMG-CoA lyase expression in human tissues provides clues about 3-hydroxy-3-methylglutaric aciduria.

Authors:  Beatriz Puisac; María Arnedo; Cesar H Casale; María Pilar Ribate; Tomás Castiella; Feliciano J Ramos; Antonia Ribes; Celia Pérez-Cerdá; Nuria Casals; Fausto G Hegardt; Juan Pié
Journal:  J Inherit Metab Dis       Date:  2010-06-08       Impact factor: 4.982

10.  A Case of Dilated Cardiomyopathy Associated with 3-Hydroxy-3-Methylglutaryl-Coenzyme A (HMG CoA) Lyase Deficiency.

Authors:  Alexander A C Leung; Alicia K Chan; Justin A Ezekowitz; Alexander K C Leung
Journal:  Case Rep Med       Date:  2009-11-04
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