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Literature DB >> 9762596

Neonatal onset in fatty acid oxidation disorders: how can we minimize morbidity and mortality?

E Riudor¹.

Abstract

Entities: Chemical Disease

Mesh：

Substances：
Fatty Acids

Year: 1998 PMID： 9762596 DOI： 10.1023/a:1005436414984

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

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15 in total

1. Pregnancy-related changes of carnitine and acylcarnitine concentrations of plasma and erythrocytes.

Authors: M Schoderbeck; B Auer; E Legenstein; H Genger; P Sevelda; H Salzer; R Marz; A Lohninger
Journal: J Perinat Med Date: 1995 Impact factor: 1.901

2. Neonatal medium-chain acyl-CoA dehydrogenase deficiency presenting with very high creatine kinase levels.

Authors: E Riudor; J A Arranz; R Anguera; S Salcedo; M Roig; M del Toro; C Bahima; G Martínez; A Ribes; C Vianey-Saban; M Sentís
Journal: J Inherit Metab Dis Date: 1998-08 Impact factor: 4.982

Review 3. Specific approaches to fetal cells isolation from maternal blood: introduction.

Authors: N J Leschot
Journal: Early Hum Dev Date: 1996-12-30 Impact factor: 2.079

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. Neonatal symptoms in medium chain acyl coenzyme A dehydrogenase deficiency.

Authors: B Wilcken; K H Carpenter; J Hammond
Journal: Arch Dis Child Date: 1993-09 Impact factor: 3.791

6. Population screening for the common G985 mutation causing medium-chain acyl-CoA dehydrogenase deficiency with Eu-labeled oligonucleotides and the DELFIA system.

Authors: H R Seddon; G Gray; R J Pollitt; A Iitiä; A Green
Journal: Clin Chem Date: 1997-03 Impact factor: 8.327

7. Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients.

Authors: C Vianey-Saban; P Divry; M Brivet; M Nada; M T Zabot; M Mathieu; C Roe
Journal: Clin Chim Acta Date: 1998-01-12 Impact factor: 3.786

Neonatal onset in fatty acid oxidation disorders: how can we minimize morbidity and mortality?

1. Pregnancy-related changes of carnitine and acylcarnitine concentrations of plasma and erythrocytes.

2. Neonatal medium-chain acyl-CoA dehydrogenase deficiency presenting with very high creatine kinase levels.

Review 3. Specific approaches to fetal cells isolation from maternal blood: introduction.

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.

5. Neonatal symptoms in medium chain acyl coenzyme A dehydrogenase deficiency.

6. Population screening for the common G985 mutation causing medium-chain acyl-CoA dehydrogenase deficiency with Eu-labeled oligonucleotides and the DELFIA system.

7. Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients.

8. Very long chain acyl-CoA dehydrogenase deficiency: successful treatment of acute cardiomyopathy.

9. A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death.

Review 10. The clinical spectrum of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

1. Increased lipolysis in LCHAD deficiency.