Literature DB >> 2215454

Peroxisomal disorders.

S Naidu1, H W Moser.   

Abstract

Although peroxisomes were once considered a vestige, their importance in cellular metabolism is clearly established by the many inherited diseases that have been described in the past two decades. Unfortunately there is no definitive treatment for the various disorders, but based on the recognition of the biochemical abnormalities, prenatal testing and appropriate genetic counseling can be provided. It is essential for clinicians to be aware of this group of diseases, as diagnosis and further study of these patients are essential in understanding the basic etiologic mechanisms underlying these complex groups of disorders. Clearly, there is much to be learned about the relationship between biochemical abnormalities and the phenotypic variability of the peroxisomal disorders.

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Year:  1990        PMID: 2215454

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


  3 in total

Review 1.  Punctate epiphyses: a radiological sign not a disease.

Authors:  A K Poznanski
Journal:  Pediatr Radiol       Date:  1994

2.  Metabolic dysfunction in Russell-Silver syndrome.

Authors:  A L Cazgan; E Parano; L Pavone; D C De Vivo
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

3.  Lactic acidosis and mitochondrial dysfunction in two children with peroxisomal disorders.

Authors:  R D Holmes; K H Moore; J P Ofenstein; P Tsatsos; F L Kiechle
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

  3 in total

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