Literature DB >> 3587298

Peroxisomal enzyme deficiency in the Conradi-Hunerman form of chondrodysplasia punctata.

R D Holmes, G N Wilson, A K Hajra.   

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Year:  1987        PMID： 3587298     DOI： 10.1056/NEJM198706183162517

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


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  8 in total

1.  A new type of chondrodysplasia punctata associated with peroxisomal dysfunction.

Authors:  B T Poll-The; P Maroteaux; C Narcy; P Quetin; M Guesnu; R J Wanders; R B Schutgens; J M Saudubray
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

Review 2.  Dysmorphic syndromes with demonstrable biochemical abnormalities.

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

3.  Peroxisomal enzyme deficiency in X-linked dominant Conradi-Hünermann syndrome.

Authors:  P T Clayton; D C Kalter; D J Atherton; G T Besley; D M Broadhead
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

4.  Chondrodysplasia punctata with a mild clinical course.

Authors:  J M Nuoffer; J P Pfammatter; A Spahr; H Toplak; R J Wanders; R B Schutgens; U N Wiesmann
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

5.  Isolated dihydroxyacetonephosphate acyltransferase deficiency presenting with developmental delay.

Authors:  P T Clayton; S Eckhardt; J Wilson; C M Hall; Y Yousuf; R J Wanders; R B Schutgens
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

Review 6.  Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism.

Authors:  Peter M Elias; Mary L Williams; Walter M Holleran; Yan J Jiang; Matthias Schmuth
Journal:  J Lipid Res       Date:  2008-02-02       Impact factor: 5.922

7.  Pathogenesis of the cutaneous phenotype in inherited disorders of cholesterol metabolism: Therapeutic implications for topical treatment of these disorders.

Authors:  Peter M Elias; Debra Crumrine; Amy Paller; Marina Rodriguez-Martin; Mary L Williams
Journal:  Dermatoendocrinol       Date:  2011-04-01

Review 8.  The Key Role of Peroxisomes in Follicular Growth, Oocyte Maturation, Ovulation, and Steroid Biosynthesis.

Authors:  Shan Wang; HaoXuan Yang; YongLun Fu; XiaoMing Teng; ChiChiu Wang; WenMing Xu
Journal:  Oxid Med Cell Longev       Date:  2022-02-03       Impact factor: 6.543
  8 in total

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