Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Familial hypoketotic hypoglycaemia associated with peripheral neuropathy, pigmentary retinopathy and C6-C14 hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation?

× No keyword cloud information.

3 in total

Review 1. Peroxisomal disorders: a newly recognised group of genetic diseases.

Authors: R B Schutgens; H S Heymans; R J Wanders; H van den Bosch; J M Tager
Journal: Eur J Pediatr Date: 1986-02 Impact factor: 3.183

Review 2. The acyl-CoA dehydrogenation deficiencies. Recent advances in the enzymic characterization and understanding of the metabolic and pathophysiological disturbances in patients with acyl-CoA dehydrogenation deficiencies.

Authors: N Gregersen
Journal: Scand J Clin Lab Invest Suppl Date: 1985

3. Formation of cholic acid from 3 alpha, 7 alpha, 12 alpha-trihydroxy-5 beta-cholestanoic acid by rat liver peroxisomes.

Authors: F Kase; I Björkhem; J I Pedersen
Journal: J Lipid Res Date: 1983-12 Impact factor: 5.922

3 in total

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. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Authors: H Przyrembel; C Jakobs; L IJlst; J B de Klerk; R J Wanders
Journal: J Inherit Metab Dis Date: 1991 Impact factor: 4.982

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

Authors: R J Wanders; L Ijlst; M Duran; C Jakobs; J B de Klerk; H Przyrembel; F Rocchiccioli; P Aubourg
Journal: J Inherit Metab Dis Date: 1991 Impact factor: 4.982

Review 4. Metabolic pigmentary retinopathies: diagnosis and therapeutic attempts.

Authors: B T Poll-The; T Billette de Villemeur; M Abitbol; J L Dufier; J M Saudubray
Journal: Eur J Pediatr Date: 1992-01 Impact factor: 3.183

5. Medium-chain triglyceride loading has no diagnostic power in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Authors: C G Costa; I T de Almeida; C Jakobs; M Duran; B T Poll-The
Journal: J Inherit Metab Dis Date: 1996 Impact factor: 4.982

6. 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

7. 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

8. Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency.

Authors: E Bertini; C Dionisi-Vici; B Garavaglia; A B Burlina; M Sabatelli; M Rimoldi; A Bartuli; G Sabetta; S DiDonato
Journal: Eur J Pediatr Date: 1992-02 Impact factor: 3.183

Review 9. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a severe fatty acid oxidation disorder.

Authors: A C Sewell; S W Bender; S Wirth; H Münterfering; L Ijlist; R J Wanders
Journal: Eur J Pediatr Date: 1994-10 Impact factor: 3.183

10. Differential diagnosis of hydroxydicarboxylic aciduria based on release of 3H2O from [9,10-3H]myristic and [9,10-3H]palmitic acids by intact cultured fibroblasts.

Authors: S E Olpin; N J Manning; K Carpenter; B Middleton; R J Pollitt
Journal: J Inherit Metab Dis Date: 1992 Impact factor: 4.982