Literature DB >> 6150348

Prenatal detection of Zellweger syndrome.

R B Schutgens, H S Heymans, R J Wanders, H vd Bosch, G Schrakamp.   

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Year:  1984        PMID: 6150348     DOI: 10.1016/s0140-6736(84)90847-x

Source DB:  PubMed          Journal:  Lancet        ISSN: 0140-6736            Impact factor:   79.321


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  7 in total

1.  Impaired plasmalogen metabolism in infantile Refsum's disease.

Authors:  B T Poll-Thé; H Ogier; J M Saudubray; R B Schutgens; R J Wanders; H van den Bosch; G Schrakamp
Journal:  Eur J Pediatr       Date:  1986-02       Impact factor: 3.183

2.  Partial deficiency of dihydroxyacetone phosphate acyltransferase activity in both classical and infantile Refsum's diseases.

Authors:  J T Van Crugten; B Paton; A Poulos
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

Review 3.  Peroxisomal disorders: a newly recognised group of genetic diseases.

Authors:  R B Schutgens; H S Heymans; R J Wanders; H van den Bosch; J M Tager
Journal:  Eur J Pediatr       Date:  1986-02       Impact factor: 3.183

4.  A prenatal test for the cerebro-hepato-renal (Zellweger) syndrome by demonstration of the absence of catalase-containing particles (peroxisomes) in cultured amniotic fluid cells.

Authors:  R J Wanders; G Schrakamp; H van den Bosch; J M Tager; R B Schutgens
Journal:  Eur J Pediatr       Date:  1986-04       Impact factor: 3.183

5.  Prenatal diagnosis of Zellweger syndrome and related disorders: impaired degradation of phytanic acid.

Authors:  A Poulos; C van Crugten; P Sharp; W F Carey; E Robertson; D M Becroft; J M Saudubray; B T Poll-The; E Christensen; N Brandt
Journal:  Eur J Pediatr       Date:  1986-12       Impact factor: 3.183

Review 6.  Prenatal diagnosis of inborn errors of metabolism with renal manifestations.

Authors:  E Harms
Journal:  Pediatr Nephrol       Date:  1987-07       Impact factor: 3.714

7.  A milder variant of Zellweger syndrome.

Authors:  P G Barth; R B Schutgens; J A Bakkeren; K P Dingemans; H S Heymans; A C Douwes; J M van der Klei-van Moorsel
Journal:  Eur J Pediatr       Date:  1985-11       Impact factor: 3.183

  7 in total

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