Literature DB >> 8739956

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).

L Ijlst1, J P Ruiter, J Vreijling, R J Wanders.   

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Year:  1996        PMID： 8739956     DOI： 10.1007/bf01799420

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


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  6 in total

1.  Rapid and simple method for purification of nucleic acids.

Authors:  R Boom; C J Sol; M M Salimans; C L Jansen; P M Wertheim-van Dillen; J van der Noordaa
Journal:  J Clin Microbiol       Date:  1990-03       Impact factor: 5.948

2.  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

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

Authors:  L Ijlst; S Uskikubo; T Kamijo; T Hashimoto; J P Ruiter; J B de Klerk; R J Wanders
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

4.  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

5.  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

6.  Structures of the human cDNA and gene encoding the 78 kDa gastrin-binding protein and of a related pseudogene.

Authors:  Q X Zhang; G S Baldwin
Journal:  Biochim Biophys Acta       Date:  1994-10-18
  6 in total
  3 in total

1.  Accuracy of preimplantation diagnosis of single-gene disorders by polar body analysis of oocytes.

Authors:  S Rechitsky; C Strom; O Verlinsky; T Amet; V Ivakhnenko; V Kukharenko; A Kuliev; Y Verlinsky
Journal:  J Assist Reprod Genet       Date:  1999-04       Impact factor: 3.412

2.  Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia.

Authors:  K Joost; K Ounap; R Zordania; M-L Uudelepp; R K Olsen; K Kall; K Kilk; U Soomets; T Kahre
Journal:  JIMD Rep       Date:  2011-09-06

3.  Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency.

Authors:  Irene De Biase; Krista S Viau; Aiping Liu; Tatiana Yuzyuk; Lorenzo D Botto; Marzia Pasquali; Nicola Longo
Journal:  JIMD Rep       Date:  2016-04-28
  3 in total

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