Literature DB >> 7564259

Clinical and biochemical presentation of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

L Hagenfeldt1, N Venizelos, U von Döbeln.   

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Year:  1995        PMID: 7564259     DOI: 10.1007/BF00711779

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


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  6 in total

1.  NADPH-dependent reductive metabolism of cis-5 unsaturated fatty acids. A revised pathway for the beta-oxidation of oleic acid.

Authors:  K Y Tserng; S J Jin
Journal:  J Biol Chem       Date:  1991-06-25       Impact factor: 5.157

2.  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

3.  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

4.  beta-Oxidation enzymes in fibroblasts from patients with 3-hydroxydicarboxylic aciduria.

Authors:  N Venizelos; L Ijlst; R J Wanders; L Hagenfeldt
Journal:  Pediatr Res       Date:  1994-07       Impact factor: 3.756

5.  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

6.  NADPH-dependent beta-oxidation of unsaturated fatty acids with double bonds extending from odd-numbered carbon atoms.

Authors:  T E Smeland; M Nada; D Cuebas; H Schulz
Journal:  Proc Natl Acad Sci U S A       Date:  1992-08-01       Impact factor: 11.205

  6 in total
  12 in total

1.  Growth in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency.

Authors:  C Bieneck Haglind; M Halldin Stenlid; S Ask; J Alm; A Nemeth; Uv Döbeln; A Nordenström
Journal:  JIMD Rep       Date:  2012-07-06

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.  Lack of mitochondrial trifunctional protein in mice causes neonatal hypoglycemia and sudden death.

Authors:  J A Ibdah; H Paul; Y Zhao; S Binford; K Salleng; M Cline; D Matern; M J Bennett; P Rinaldo; A W Strauss
Journal:  J Clin Invest       Date:  2001-06       Impact factor: 14.808

4.  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

5.  Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening.

Authors:  Jolanta Sykut-Cegielska; Wanda Gradowska; Dorota Piekutowska-Abramczuk; Brage S Andresen; Rikke K J Olsen; Mariusz Ołtarzewski; Maciej Pronicki; Magdalena Pajdowska; Anna Bogdańska; Ewa Jabłońska; Barbara Radomyska; Katarzyna Kuśmierska; Małgorzata Krajewska-Walasek; Niels Gregersen; Ewa Pronicka
Journal:  J Inherit Metab Dis       Date:  2010-11-20       Impact factor: 4.982

6.  Analysis of 3-hydroxydodecanedioic acid for studies of fatty acid metabolic disorders: preparation of stable isotope standards.

Authors:  J S Chickos; Barbara A Way; J Wilson; M Shaharuzzaman; J Laird; M Landt
Journal:  J Clin Lab Anal       Date:  2002       Impact factor: 2.352

7.  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

8.  Fatty acid oxidation in fibroblasts from patients with defects in beta-oxidation and in the respiratory chain.

Authors:  N Venizelos; U von Döbeln; L Hagenfeldt
Journal:  J Inherit Metab Dis       Date:  1998-06       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

Review 10.  Evidence that Oxidative Disbalance and Mitochondrial Dysfunction are Involved in the Pathophysiology of Fatty Acid Oxidation Disorders.

Authors:  Graziela Schmitt Ribas; Carmen Regla Vargas
Journal:  Cell Mol Neurobiol       Date:  2020-09-02       Impact factor: 5.046

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