Literature DB >> 7845339

Peroxisomal disorders.

S Naidu1, H W Moser.   

Abstract

Disorders of peroxisome function result in severe and progressive neurologic deficits. Knowledge of these disorders and their role in neurodegenerative disorders has been growing rapidly over the last 40 years. Noninvasive diagnostic tests can identify all of the peroxisomal disorders, many of them prenatally. The genetic basis of some of these peroxisomal disorders is being established, which will advance understanding of their pathobiology and provide clues for therapeutic interventions.

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Year:  1994        PMID: 7845339

Source DB:  PubMed          Journal:  Neurol Clin        ISSN: 0733-8619            Impact factor:   3.806


  1 in total

1.  An atypical form of erythrokeratodermia variabilis maps to chromosome 7q22.

Authors:  Thomas G Saba; Alexandre Montpetit; Andrei Verner; Pierre Rioux; Thomas J Hudson; Régen Drouin; Christian A Drouin
Journal:  Hum Genet       Date:  2004-11-25       Impact factor: 4.132

  1 in total

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