Literature DB >> 7564258

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: high frequency of the G1528C mutation with no apparent correlation with the clinical phenotype.

L Ijlst1, S Uskikubo, T Kamijo, T Hashimoto, J P Ruiter, J B de Klerk, R J Wanders.   

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Year:  1995        PMID： 7564258     DOI： 10.1007/BF00711778

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


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  8 in total

1.  Novel fatty acid beta-oxidation enzymes in rat liver mitochondria. II. Purification and properties of enoyl-coenzyme A (CoA) hydratase/3-hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase trifunctional protein.

Authors:  Y Uchida; K Izai; T Orii; T Hashimoto
Journal:  J Biol Chem       Date:  1992-01-15       Impact factor: 5.157

2.  Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Authors:  H Przyrembel; C Jakobs; L IJlst; J B de Klerk; R J Wanders
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

3.  Human liver long-chain 3-hydroxyacyl-coenzyme A dehydrogenase is a multifunctional membrane-bound beta-oxidation enzyme of mitochondria.

Authors:  K Carpenter; R J Pollitt; B Middleton
Journal:  Biochem Biophys Res Commun       Date:  1992-03-16       Impact factor: 3.575

4.  Combined enzyme defect of mitochondrial fatty acid oxidation.

Authors:  S Jackson; R S Kler; K Bartlett; H Briggs; L A Bindoff; M Pourfarzam; D Gardner-Medwin; D M Turnbull
Journal:  J Clin Invest       Date:  1992-10       Impact factor: 14.808

5.  Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: a cause of lethal myopathy and cardiomyopathy in early childhood.

Authors:  F Rocchiccioli; R J Wanders; P Aubourg; C Vianey-Liaud; L Ijlst; M Fabre; N Cartier; P F Bougneres
Journal:  Pediatr Res       Date:  1990-12       Impact factor: 3.756

6.  Molecular cloning of the cDNAs for the subunits of rat mitochondrial fatty acid beta-oxidation multienzyme complex. Structural and functional relationships to other mitochondrial and peroxisomal beta-oxidation enzymes.

Authors:  T Kamijo; T Aoyama; J Miyazaki; T Hashimoto
Journal:  J Biol Chem       Date:  1993-12-15       Impact factor: 5.157

7.  Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein.

Authors:  L IJlst; R J Wanders; S Ushikubo; T Kamijo; T Hashimoto
Journal:  Biochim Biophys Acta       Date:  1994-12-08

8.  Human trifunctional protein deficiency: a new disorder of mitochondrial fatty acid beta-oxidation.

Authors:  R J Wanders; L IJlst; F Poggi; J P Bonnefont; A Munnich; M Brivet; D Rabier; J M Saudubray
Journal:  Biochem Biophys Res Commun       Date:  1992-11-16       Impact factor: 3.575
  8 in total
  9 in total

1.  Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits.

Authors:  S Ushikubo; T Aoyama; T Kamijo; R J Wanders; P Rinaldo; J Vockley; T Hashimoto
Journal:  Am J Hum Genet       Date:  1996-05       Impact factor: 11.025

2.  Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a new method to identify the G1528C mutation in genomic DNA showing its high frequency (approximately 90%) and identification of a new mutation (T2198C).

Authors:  L Ijlst; J P Ruiter; J Vreijling; R J Wanders
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

3.  Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of two new mutations.

Authors:  L IJlst; W Oostheim; J P Ruiter; R J Wanders
Journal:  J Inherit Metab Dis       Date:  1997-07       Impact factor: 4.982

4.  Follow-up and multimodal imaging in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Authors:  Glenda Espinosa-Barberi; Sara Miranda Fernández; Michel Ernesto Valdés Martín; María Ángeles Betancor Perdomo; Carmen Julissa Aguilar Rosales
Journal:  Int J Ophthalmol       Date:  2018-10-18       Impact factor: 1.779

Review 5.  Metabolic cardiomyopathies.

Authors:  B Guertl; C Noehammer; G Hoefler
Journal:  Int J Exp Pathol       Date:  2000-12       Impact factor: 1.925

6.  Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation.

Authors:  J A Ibdah; I Tein; C Dionisi-Vici; M J Bennett; L IJlst; B Gibson; R J Wanders; A W Strauss
Journal:  J Clin Invest       Date:  1998-09-15       Impact factor: 14.808

7.  Identification and characterization of an intracellular protein complex that binds fibroblast growth factor-2 in bovine brain.

Authors:  E Chevet; G Lemaître; K Cailleret; S Dahan; J J Bergeron; M D Katinka
Journal:  Biochem J       Date:  1999-08-01       Impact factor: 3.857

8.  Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcaemia.

Authors:  J A Ibdah; M J Dasouki; A W Strauss
Journal:  J Inherit Metab Dis       Date:  1999-10       Impact factor: 4.982

Review 9.  Disorders of mitochondrial long-chain fatty acid oxidation.

Authors:  R J Pollitt
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982
  9 in total

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