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Literature DB >> 2122103

First prenatal diagnosis of acyl-CoA oxidase deficiency.

R J Wanders¹, A Schelen, N Feller, R B Schutgens, F Stellaard, C Jakobs, B Mitulla, G Seidlitz.

Abstract

Entities: Disease

Mesh：

Substances：

Year: 1990 PMID： 2122103 DOI： 10.1007/bf01799398

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

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7 in total

Review 1. The inborn errors of peroxisomal beta-oxidation: a review.

Authors: R J Wanders; C W van Roermund; R B Schutgens; P G Barth; H S Heymans; H van den Bosch; J M Tager
Journal: J Inherit Metab Dis Date: 1990 Impact factor: 4.982

Review 2. Prenatal and perinatal diagnosis of peroxisomal disorders.

Authors: R B Schutgens; G Schrakamp; R J Wanders; H S Heymans; J M Tager; H van den Bosch
Journal: J Inherit Metab Dis Date: 1989 Impact factor: 4.982

3. Very long fatty acids in amniotic fluid from a fetus affected with Zellweger syndrome.

Authors: C Jakobs; H ten Brink; R M Kok; F Stellaard; W J Kleijer; R J Wanders; R B Schutgens
Journal: Eur J Pediatr Date: 1989-04 Impact factor: 3.183

4. Prenatal diagnosis of Zellweger syndrome by determination of trihydroxycoprostanic acid in amniotic fluid.

Authors: F Stellaard; S A Langelaar; R M Kok; W J Kleijer; R B Schutgens; C Jakobs
Journal: Eur J Pediatr Date: 1988-11 Impact factor: 3.183

Review 5. Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes.

Authors: R I Kelley; N S Datta; W B Dobyns; A K Hajra; A B Moser; M J Noetzel; E H Zackai; H W Moser
Journal: Am J Med Genet Date: 1986-04

6. A fatty acyl-CoA oxidizing system in rat liver peroxisomes; enhancement by clofibrate, a hypolipidemic drug.

Authors: P B Lazarow; C De Duve
Journal: Proc Natl Acad Sci U S A Date: 1976-06 Impact factor: 11.205

7. A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy).

Authors: B T Poll-The; F Roels; H Ogier; J Scotto; J Vamecq; R B Schutgens; R J Wanders; C W van Roermund; M J van Wijland; A W Schram
Journal: Am J Hum Genet Date: 1988-03 Impact factor: 11.025

7 in total

8 in total

1. Bifunctional enzyme deficiency: identification of a new type of peroxisomal disorder in a patient with an impairment in peroxisomal beta-oxidation of unknown aetiology by means of complementation analysis.

Authors: R J Wanders; C W van Roermund; S Brul; R B Schutgens; J M Tager
Journal: J Inherit Metab Dis Date: 1992 Impact factor: 4.982

2. Effects of hematopoietic stem cell transplantation on acyl-CoA oxidase deficiency: a sibling comparison study.

Authors: Raymond Y Wang; Edwin S Monuki; James Powers; Phillip H Schwartz; Paul A Watkins; Yang Shi; Ann Moser; David A Shrier; Hans R Waterham; Diane J Nugent; Jose E Abdenur
Journal: J Inherit Metab Dis Date: 2014-03-12 Impact factor: 4.982

3. Immunoblot analysis of peroxisomal proteins in liver and fibroblasts from patients.

Authors: R J Wanders; C Dekker; R Ofman; R B Schutgens; P Mooijer
Journal: J Inherit Metab Dis Date: 1995 Impact factor: 4.982

4. Measurement of dihydroxyacetone-phosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cells.

Authors: R J Wanders; R Ofman; G J Romeijn; R B Schutgens; P A Mooijer; C Dekker; H van den Bosch
Journal: J Inherit Metab Dis Date: 1995 Impact factor: 4.982

8. Novel subtype of peroxisomal acyl-CoA oxidase deficiency and bifunctional enzyme deficiency with detectable enzyme protein: identification by means of complementation analysis.

Authors: Y Suzuki; N Shimozawa; S Yajima; S Tomatsu; N Kondo; Y Nakada; S Akaboshi; M Lai; Y Tanabe; T Hashimoto
Journal: Am J Hum Genet Date: 1994-01 Impact factor: 11.025