Literature DB >> 1779613

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

H Przyrembel1, C Jakobs, L IJlst, J B de Klerk, R J Wanders.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1991        PMID： 1779613     DOI： 10.1007/bf01799932

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


× No keyword cloud information.
  11 in total

1.  Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid beta-oxidation.

Authors:  R J Wanders; L IJlst; A H van Gennip; C Jakobs; J P de Jager; L Dorland; F J van Sprang; M Duran
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

2.  Sudden infant death and long-chain 3-hydroxyacyl-CoA dehydrogenase.

Authors:  R J Wanders; M Duran; L Ijlst; J P de Jager; A H van Gennip; C Jakobs; L Dorland; F J van Sprang
Journal:  Lancet       Date:  1989-07-01       Impact factor: 79.321

3.  The L-3-hydroxyacyl-CoA dehydrogenase deficiency.

Authors:  D E Hale; C Thorpe; K Braat; J H Wright; C R Roe; P M Coates; T Hashimoto; A M Glasgow
Journal:  Prog Clin Biol Res       Date:  1990

4.  Urinary excretion of gamma-hydroxybutyric acid in a patient with neurological abnormalities. The probability of a new inborn error of metabolism.

Authors:  C Jakobs; M Bojasch; E Mönch; D Rating; H Siemes; F Hanefeld
Journal:  Clin Chim Acta       Date:  1981-04-09       Impact factor: 3.786

5.  Age-related differences in plasmalogen content of erythrocytes from patients with the cerebro-hepato-renal (Zellweger) syndrome: implications for postnatal detection of the disease.

Authors:  R J Wanders; Y R Purvis; H S Heymans; J A Bakkeren; G G Parmentier; J van Eldere; H Eyssen; H van den Bosch; J M Tager; R B Schutgens
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

6.  Retrospective diagnosis of 3-hydroxydicarboxylic aciduria by analysis of filter paper blood samples.

Authors:  U von Döbeln; N Venizelos; L Hagenfeldt
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

7.  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

8.  3-Hydroxyoctanoic aciduria: identification of a new organic acid in the urine of a patient with non-ketotic hypoglycemia.

Authors:  R I Kelley; D H Morton
Journal:  Clin Chim Acta       Date:  1988-06-30       Impact factor: 3.786

9.  3-Hydroxydicarboxylic aciduria--a fatty acid oxidation defect with severe prognosis.

Authors:  L Hagenfeldt; U von Döbeln; E Holme; J Alm; G Brandberg; E Enocksson; L Lindeberg
Journal:  J Pediatr       Date:  1990-03       Impact factor: 4.406

10.  Peroxisomal beta-oxidation of palmitoyl-CoA in human liver homogenates and its deficiency in the cerebro-hepato-renal (Zellweger) syndrome.

Authors:  R J Wanders; C W van Roermund; C T de Vries; H van den Bosch; G Schrakamp; J M Tager; A W Schram; R B Schutgens
Journal:  Clin Chim Acta       Date:  1986-08-30       Impact factor: 3.786
View more
  12 in total

1.  Long-chain 3-hydroxyacyl-CoA dehydrogenase in leukocytes and chorionic villus fibroblasts: potential for pre- and postnatal diagnosis.

Authors:  R J Wanders; L Ijlst
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

2.  Lethal dilated cardiomyopathy due to long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Authors:  E Martins; A Costa; E Silva; M Medina; M L Cardoso; C Vianey-Saban; P Divry; L Vilarinho
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

3.  Characterization of Chorioretinopathy Associated with Mitochondrial Trifunctional Protein Disorders: Long-Term Follow-up of 21 Cases.

Authors:  Erin A Boese; Nieraj Jain; Yali Jia; Catie L Schlechter; Cary O Harding; Simon S Gao; Rachel C Patel; David Huang; Richard G Weleber; Melanie B Gillingham; Mark E Pennesi
Journal:  Ophthalmology       Date:  2016-08-02       Impact factor: 12.079

4.  Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene.

Authors:  L IJlst; J P Ruiter; J M Hoovers; M E Jakobs; R J Wanders
Journal:  J Clin Invest       Date:  1996-08-15       Impact factor: 14.808

5.  Retinal dystrophy in long chain 3-hydroxy-acyl-coA dehydrogenase deficiency.

Authors:  I Schrijver-Wieling; G H van Rens; D Wittebol-Post; J A Smeitink; J P de Jager; H B de Klerk; G H van Lith
Journal:  Br J Ophthalmol       Date:  1997-04       Impact factor: 4.638

6.  A simple, straightforward assay for long-chain 3-hydroxyacyl-CoA dehydrogenase based on the use of N-ethylmaleimide: potential for pre- and postnatal diagnosis.

Authors:  L Ijlst; R J Wanders
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

7.  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

8.  Long-chain 3-hydroxyacyl-CoA dehydrogenase in chorionic villi, fetal liver and fibroblasts and prenatal diagnosis of 3-hydroxyacyl-CoA dehydrogenase deficiency.

Authors:  U von Döbeln; N Venizelos; M Westgren; L Hagenfeldt
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

9.  Marked elevation of urinary 3-hydroxydecanedioic acid in a malnourished infant with glycogen storage disease, mimicking long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency.

Authors:  J Bergoffen; P Kaplan; D E Hale; M J Bennett; G T Berry
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

10.  Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients.

Authors:  T Kamijo; R J Wanders; J M Saudubray; T Aoyama; A Komiyama; T Hashimoto
Journal:  J Clin Invest       Date:  1994-04       Impact factor: 14.808
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.