Literature DB >> 6207587

Refsum's disease, adrenoleucodystrophy, and the Zellweger syndrome.

O Stokke, S Skrede, J Ek, I Björkhem.   

Abstract

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Year:  1984        PMID： 6207587     DOI： 10.3109/00365518409083839

Source DB:  PubMed          Journal:  Scand J Clin Lab Invest        ISSN： 0036-5513            Impact factor:   1.713


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  18 in total

1.  Peroxisomes in infantile phytanic acid storage disease: a cytochemical study of skin fibroblasts.

Authors:  M E Beard; A B Moser; V Sapirstein; E Holtzman
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

2.  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

3.  Biosynthesis and maturation of peroxisomal beta-oxidation enzymes in fibroblasts in relation to the Zellweger syndrome and infantile Refsum disease.

Authors:  A W Schram; A Strijland; T Hashimoto; R J Wanders; R B Schutgens; H van den Bosch; J M Tager
Journal:  Proc Natl Acad Sci U S A       Date:  1986-08       Impact factor: 11.205

4.  Infantile Refsum disease: deficiency of catalase-containing particles (peroxisomes), alkyldihydroxyacetone phosphate synthase and peroxisomal beta-oxidation enzyme proteins.

Authors:  R J Wanders; R B Schutgens; G Schrakamp; H van den Bosch; J M Tager; A W Schram; T Hashimoto; B T Poll-Thé; J M Saudubrau
Journal:  Eur J Pediatr       Date:  1986-08       Impact factor: 3.183

5.  Neonatal adrenoleukodystrophy.

Authors:  P Aubourg; J Scotto; F Rocchiccioli; D Feldmann-Pautrat; O Robain
Journal:  J Neurol Neurosurg Psychiatry       Date:  1986-01       Impact factor: 10.154

6.  Infantile Refsum's disease: biochemical findings suggesting multiple peroxisomal dysfunction.

Authors:  B T Poll-The; J M Saudubray; H Ogier; R B Schutgens; R J Wanders; G Schrakamp; H van den Bosch; J M Trijbels; A Poulos; H W Moser
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

Review 7.  Peroxisomal disorders: clinical characterization.

Authors:  L Monnens; H Heymans
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

8.  Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy.

Authors:  B T Poll-The; J M Saudubray; H A Ogier; M Odièvre; J M Scotto; L Monnens; L C Govaerts; F Roels; A Cornelis; R B Schutgens
Journal:  Eur J Pediatr       Date:  1987-09       Impact factor: 3.183

9.  Phytanic acid alpha-oxidation and complementation analysis of classical Refsum and peroxisomal disorders.

Authors:  B T Poll-The; O H Skjeldal; O Stokke; A Poulos; F Demaugre; J M Saudubray
Journal:  Hum Genet       Date:  1989-01       Impact factor: 4.132

10.  Pelizaeus-Merzbacher disease. The Löwenberg-Hill type.

Authors:  G W Bruyn; H R Weenink; G T Bots; J L Teepen; W J van Wolferen
Journal:  Acta Neuropathol       Date:  1985       Impact factor: 17.088
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