Literature DB >> 2512444

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

P T Clayton1, D C Kalter, D J Atherton, G T Besley, D M Broadhead.   

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Year:  1989        PMID： 2512444     DOI： 10.1007/bf03335422

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  4 in total

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

Authors:  R D Holmes; G N Wilson; A K Hajra
Journal:  N Engl J Med       Date:  1987-06-18       Impact factor: 91.245

Review 2.  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

3.  Cataracts as a marker of genetic heterogeneity in chondrodysplasia punctata.

Authors:  R Happle
Journal:  Clin Genet       Date:  1981-01       Impact factor: 4.438

4.  Plasma bile acids in patients with peroxisomal dysfunction syndromes: analysis by capillary gas chromatography-mass spectrometry.

Authors:  P T Clayton; B D Lake; N A Hall; D B Shortland; R A Carruthers; A M Lawson
Journal:  Eur J Pediatr       Date:  1987-03       Impact factor: 3.183
  4 in total
  7 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

2.  Abnormal barrier function in the pathogenesis of ichthyosis: therapeutic implications for lipid metabolic disorders.

Authors:  Peter M Elias; Mary L Williams; Kenneth R Feingold
Journal:  Clin Dermatol       Date:  2012 May-Jun       Impact factor: 3.541

Review 3.  Pathogenesis-based therapies in ichthyoses.

Authors:  Joey E Lai-Cheong; Peter M Elias; Amy S Paller
Journal:  Dermatol Ther       Date:  2013 Jan-Feb       Impact factor: 2.851

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
  7 in total

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