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6 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. A bifunctional protein with deficient enzymic activity: identification of a new peroxisomal disorder using novel methods to measure the peroxisomal beta-oxidation enzyme activities.

Authors: R J Wanders; C W van Roermund; A Schelen; R B Schutgens; J M Tager; J B Stephenson; P T Clayton
Journal: J Inherit Metab Dis Date: 1990 Impact factor: 4.982

3. Familial hypoketotic hypoglycaemia associated with peripheral neuropathy, pigmentary retinopathy and C6-C14 hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation?

Authors: B T Poll-The; J P Bonnefont; H Ogier; C Charpentier; A Pelet; J M Le Fur; C Jakobs; R M Kok; M Duran; P Divry
Journal: J Inherit Metab Dis Date: 1988 Impact factor: 4.982

4. 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

5. 3-Hydroxydicarboxylic aciduria due to long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency associated with sudden neonatal death: protective effect of medium-chain triglyceride treatment.

Authors: M Duran; R J Wanders; J P de Jager; L Dorland; L Bruinvis; D Ketting; L Ijlst; F J van Sprang
Journal: Eur J Pediatr Date: 1991-01 Impact factor: 3.183

6. 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

6 in total

5 in total

Review 1. Metabolic cardiomyopathies.

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

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: different clinical expression in three unrelated patients.

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

2. A bifunctional protein with deficient enzymic activity: identification of a new peroxisomal disorder using novel methods to measure the peroxisomal beta-oxidation enzyme activities.

3. Familial hypoketotic hypoglycaemia associated with peripheral neuropathy, pigmentary retinopathy and C6-C14 hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation?

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

5. 3-Hydroxydicarboxylic aciduria due to long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency associated with sudden neonatal death: protective effect of medium-chain triglyceride treatment.

6. 3-Hydroxyoctanoic aciduria: identification of a new organic acid in the urine of a patient with non-ketotic hypoglycemia.

Review 1. Metabolic cardiomyopathies.

2. Acute dilated cardiomyopathy in a patient with deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase.

Review 3. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a severe fatty acid oxidation disorder.

4. Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency.

Review 5. New developments in the diagnosis and investigation of mitochondrial fatty acid oxidation disorders.