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Literature DB >> 3234448

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

F Stellaard, S A Langelaar, R M Kok, W J Kleijer, R B Schutgens, C Jakobs.

Abstract

Entities: Chemical Disease

Mesh：

Substances：

Year: 1988 PMID： 3234448 DOI： 10.1007/bf00445940

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

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4 in total

1. Possibility of prenatal diagnosis of Zellweger syndrome.

Authors: I Björkhem; L Sisfontes; B Boström; F Kase; L Hagenfeldt; R Blomstrand
Journal: Lancet Date: 1984-06-02 Impact factor: 79.321

Review 2. Zellweger syndrome: biochemical procedures in diagnosis, prevention and treatment.

Authors: R B Schutgens; R J Wanders; H S Heymans; A W Schram; J M Tager; G Schrakamp; H van den Bosch
Journal: J Inherit Metab Dis Date: 1987 Impact factor: 4.982

3. Stable isotope dilution analysis of pipecolic acid in cerebrospinal fluid, plasma, urine and amniotic fluid using electron capture negative ion mass fragmentography.

Authors: R M Kok; L Kaster; A P de Jong; B Poll-Thé; J M Saudubray; C Jakobs
Journal: Clin Chim Acta Date: 1987-09-30 Impact factor: 3.786

4. Bile acid abnormalities and the diagnosis of cerebro-hepato-renal syndrome (Zellweger syndrome).

Authors: H Eyssen; E Eggermont; J van Eldere; J Jaeken; G Parmentier; G Janssen
Journal: Acta Paediatr Scand Date: 1985-07

4 in total

3 in total

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

1. Possibility of prenatal diagnosis of Zellweger syndrome.

Review 2. Zellweger syndrome: biochemical procedures in diagnosis, prevention and treatment.

3. Stable isotope dilution analysis of pipecolic acid in cerebrospinal fluid, plasma, urine and amniotic fluid using electron capture negative ion mass fragmentography.

4. Bile acid abnormalities and the diagnosis of cerebro-hepato-renal syndrome (Zellweger syndrome).

1. First prenatal diagnosis of acyl-CoA oxidase deficiency.

2. Bile acids in amniotic fluid: promising metabolites for the prenatal diagnosis of peroxisomal disorders.

Review 3. Inborn errors of bile acid metabolism.