Literature DB >> 9427163

L-3-hydroxyacyl-CoA dehydrogenase deficiency: two cases with pigmentary retinopathy.

J Uusimaa1, L Vainionpää, S Similä, R Miettinen, M Nuutinen.   

Abstract

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Year:  1997        PMID： 9427163     DOI： 10.1023/a:1005356826192

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


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  3 in total

1.  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

2.  Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients.

Authors:  T Tyni; A Palotie; L Viinikka; L Valanne; M K Salo; U von Döbeln; S Jackson; R Wanders; N Venizelos; H Pihko
Journal:  J Pediatr       Date:  1997-01       Impact factor: 4.406

3.  Hypoglycemia, hepatic dysfunction, muscle weakness, cardiomyopathy, free carnitine deficiency and long-chain acylcarnitine excess responsive to medium chain triglyceride diet.

Authors:  A M Glasgow; A G Engel; D M Bier; L W Perry; M Dickie; J Todaro; B I Brown; M F Utter
Journal:  Pediatr Res       Date:  1983-05       Impact factor: 3.756
  3 in total
  1 in total

1.  Polyunsaturated fatty acid deficiency during dietary treatment of very long-chain acyl-CoA dehydrogenase deficiency. Rescue with soybean oil.

Authors:  J I Ruiz-Sanz; L Aldamiz-Echevarria; J Arrizabalaga; L Aquino; P Jimeno; G Pérez-Nanclares; P Sanjurjo
Journal:  J Inherit Metab Dis       Date:  2001-08       Impact factor: 4.982
  1 in total

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