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Literature DB >> 7173259

Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two brothers. I. Clinical, metabolical, and biochemical findings.

W Lehnert, U Wendel, S Lindenmaier, N Böhm.

Abstract

Entities: Disease Gene

Mesh：

Substances：
Glutarates

Year: 1982 PMID： 7173259 DOI： 10.1007/bf00442081

Source DB: PubMed Journal: Eur J Pediatr ISSN： 0340-6199 Impact factor: 3.183

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15 in total

1. CARBOHYDRATE RESERVES IN THE NEWBORN INFANT.

Authors: H J SHELLEY
Journal: Br Med J Date: 1964-02-01

2. A new membrane iron-sulfur flavoprotein of the mitochondrial electron transfer system. The entrance point of the fatty acyl dehydrogenation pathway?

Authors: F J Ruzicka; H Beinert
Journal: Biochem Biophys Res Commun Date: 1975-09-16 Impact factor: 3.575

3. Rapid diagnosis of maple syrup urine disease (branched chain ketoaciduria) by micro-enzyme assay in leukocytes and fibroblasts.

Authors: U Wendel; W Wöhler; H W Goedde; U Langenbeck; E Passarge; H W Rüdiger
Journal: Clin Chim Acta Date: 1973-05-30 Impact factor: 3.786

4. Excretion of 2-methyl-3-oxovaleric acid in propionic acidemia.

Authors: W Lehnert; L Schuchmann; R Urbánek; H Niederhoff; N Böhm
Journal: Eur J Pediatr Date: 1978-07-03 Impact factor: 3.183

5. Glutaric aciduria Type II.

Authors: L Sweetman; W L Nyhan; D A Tauner; T A Merritt; M Singh
Journal: J Pediatr Date: 1980-06 Impact factor: 4.406

6. Biochemical studies in a patient with defects in the metabolism of acyl-CoA and sarcosine: another possible case of glutaric aciduria type II.

Authors: N Gregersen; S Kølvraa; K Rasmussen; E Christensen; N J Brandt; F Ebbesen; F H Hansen
Journal: J Inherit Metab Dis Date: 1980 Impact factor: 4.982

7. Protein katabolism and oxygen consumption during starvation in infants, young adults and old men.

Authors: R A McCANCE; W M STRANGEWAYS
Journal: Br J Nutr Date: 1954 Impact factor: 3.718

8. Ethylmalonic-adipic aciduria. In vivo and in vitro studies indicating deficiency of activities of multiple acyl-CoA dehydrogenases.

Authors: S Mantagos; M Genel; K Tanaka
Journal: J Clin Invest Date: 1979-12 Impact factor: 14.808

9. Glutaric aciduria type II: in vitro studies on substrate oxidation, acyl-CoA dehydrogenases, and electron-transferring flavoprotein in cultured skin fibroblasts.

Authors: W Rhead; S Mantagos; K Tanaka
Journal: Pediatr Res Date: 1980-12 Impact factor: 3.756

10. Recurrent hypoglycemia associated with glutaric aciduria type II in an adult.

Authors: G Dusheiko; M C Kew; B I Joffe; J R Lewin; S Mantagos; K Tanaka
Journal: N Engl J Med Date: 1979-12-27 Impact factor: 91.245

17 in total

1. Infantile glycerol kinase deficiency--a condition requiring prompt identification. Clinical, biochemical, and morphological findings in two cases.

Authors: A Kohlschütter; H P Willig; D Schlamp; K Kruse; E R McCabe; H J Schäfer; G Beckenkamp; R Rohkamm
Journal: Eur J Pediatr Date: 1987-11 Impact factor: 3.183

Review 2. Dysmorphic syndromes with demonstrable biochemical abnormalities.

Authors: P T Clayton; E Thompson
Journal: J Med Genet Date: 1988-07 Impact factor: 6.318

Review 3. The inborn errors of mitochondrial fatty acid oxidation.

Authors: C Vianey-Liaud; P Divry; N Gregersen; M Mathieu
Journal: J Inherit Metab Dis Date: 1987 Impact factor: 4.982

4. 3-Methylglutaconic and 3-methylglutaric aciduria in a patient with suspected 3-methylglutaconyl-CoA hydratase deficiency.

Authors: W Lehnert; J Scharf; U Wendel
Journal: Eur J Pediatr Date: 1985-03 Impact factor: 3.183