Literature DB >> 2419755

Genetic relation between the Zellweger syndrome, infantile Refsum's disease, and rhizomelic chondrodysplasia punctata.

R J Wanders, D Saelman, H S Heymans, R B Schutgens, A Westerveld, B T Poll-Thé, J M Saudubray, H Van den Bosch, A Strijland, A W Schram.   

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Year:  1986        PMID： 2419755     DOI： 10.1056/NEJM198603203141216

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  9 in total

Review 1.  Dysmorphic syndromes with demonstrable biochemical abnormalities.

Authors:  P T Clayton; E Thompson
Journal:  J Med Genet       Date:  1988-07       Impact factor: 6.318

2.  The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder.

Authors:  Shandi Hiebler; Tomohiro Masuda; Joseph G Hacia; Ann B Moser; Phyllis L Faust; Anita Liu; Nivedita Chowdhury; Ning Huang; Amanda Lauer; Jean Bennett; Paul A Watkins; Donald J Zack; Nancy E Braverman; Gerald V Raymond; Steven J Steinberg
Journal:  Mol Genet Metab       Date:  2014-01-23       Impact factor: 4.797

3.  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

4.  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

5.  Peroxisomes and peroxisomal functions in hyperpipecolic acidaemia.

Authors:  R J Wanders; C W van Roermund; M J van Wijland; R B Schutgens; J M Tager; H van den Bosch; G H Thomas
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

6.  ER-mitochondria contacts are required for pexophagy in Saccharomyces cerevisiae.

Authors:  Xu Liu; Xin Wen; Daniel J Klionsky
Journal:  Contact (Thousand Oaks)       Date:  2019-01-08

7.  Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis.

Authors:  S Brul; A Westerveld; A Strijland; R J Wanders; A W Schram; H S Heymans; R B Schutgens; H van den Bosch; J M Tager
Journal:  J Clin Invest       Date:  1988-06       Impact factor: 14.808

8.  Treatment of infantile phytanic acid storage disease: clinical, biochemical and ultrastructural findings in two children treated for 2 years.

Authors:  E F Robertson; A Poulos; P Sharp; J Manson; G Wise; A Jaunzems; R Carter
Journal:  Eur J Pediatr       Date:  1988-02       Impact factor: 3.183

9.  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
  9 in total

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