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Literature DB >> 7173260

Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two newborn brothers. II. Morphology and pathogenesis.

N Böhm, J Uy, M Kiessling, W Lehnert.

Abstract

Entities: Disease Gene

Mesh：

Substances：
Glutarates

Year: 1982 PMID： 7173260 DOI： 10.1007/bf00442082

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

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7 in total

1. PATHOGENESIS OF POLYCYSTIC KIDNEYS. HISTORICAL SURVEY.

Authors: V OSATHANONDH; E L POTTER
Journal: Arch Pathol Date: 1964-05

2. Considerations of the pathogenesis of neonatal hepatitis, biliary atresia and choledochal cyst--the concept of infantile obstructive cholangiopathy.

Authors: B H Landing
Journal: Prog Pediatr Surg Date: 1974

3. Glutaric aciduria type II: report on a previously undescribed metabolic disorder.

Authors: H Przyrembel; U Wendel; K Becker; H J Bremer; L Bruinvis; D Ketting; S K Wadman
Journal: Clin Chim Acta Date: 1976-01-16 Impact factor: 3.786

4. 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

5. 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

6. Oxidative phosphorylation accompanying oxidation of short-chain fatty acids by rat-liver mitochondria.

Authors: F J Hird; M J Weidemann
Journal: Biochem J Date: 1966-02 Impact factor: 3.857

7. Studies on the effects of saturated and unsaturated short-chain monocarboxylic acids on the energy metabolism of rat liver mitochondria.

Authors: N Gregersen
Journal: Pediatr Res Date: 1979-11 Impact factor: 3.756

7 in total

21 in total

1. Mechanisms underlying metabolic and neural defects in zebrafish and human multiple acyl-CoA dehydrogenase deficiency (MADD).

Authors: Yuanquan Song; Mary A Selak; Corey T Watson; Christopher Coutts; Paul C Scherer; Jessica A Panzer; Sarah Gibbs; Marion O Scott; Gregory Willer; Ronald G Gregg; Declan W Ali; Michael J Bennett; Rita J Balice-Gordon
Journal: PLoS One Date: 2009-12-17 Impact factor: 3.240

Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two newborn brothers. II. Morphology and pathogenesis.

1. PATHOGENESIS OF POLYCYSTIC KIDNEYS. HISTORICAL SURVEY.

2. Considerations of the pathogenesis of neonatal hepatitis, biliary atresia and choledochal cyst--the concept of infantile obstructive cholangiopathy.

3. Glutaric aciduria type II: report on a previously undescribed metabolic disorder.

4. Glutaric aciduria Type II.

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

6. Oxidative phosphorylation accompanying oxidation of short-chain fatty acids by rat-liver mitochondria.

7. Studies on the effects of saturated and unsaturated short-chain monocarboxylic acids on the energy metabolism of rat liver mitochondria.

1. Mechanisms underlying metabolic and neural defects in zebrafish and human multiple acyl-CoA dehydrogenase deficiency (MADD).

2. Lethal multiple acyl-CoA dehydrogenation deficiency with dysmorphic features.

Review 3. Newborn screening and renal disease: where we have been; where we are now; where we are going.

Review 4. Malformations of cortical development: clinical features and genetic causes.

5. Striatal degeneration in glutaric acidaemia type II.

Review 6. Absence makes the search grow longer.

7. Clinical and pathological study of three Tunisian siblings with L-2-hydroxyglutaric aciduria.

8. Glutaric acidaemia type II (multiple acyl-CoA dehydrogenation deficiency).

9. Newborn Screening for Glutaric Aciduria-II: The New England Experience.

10. Prenatal diagnosis of glutaric aciduria type II by direct chemical analysis of dicarboxylic acids in amniotic fluid.