Literature DB >> 14009822

Nature of the defect in alcaptonuria.

V G ZANNONI, J E SEEGMILLER, B N LA DU.   

Abstract

Entities:  

Keywords:  ALKAPTONURIA/metabolism; ENZYMES/metabolism

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Year:  1962        PMID： 14009822     DOI： 10.1038/193952a0

Source DB:  PubMed          Journal:  Nature        ISSN： 0028-0836            Impact factor:   49.962


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  2 in total

Review 1.  Garrod's Croonian Lectures (1908) and the charter 'Inborn Errors of Metabolism': albinism, alkaptonuria, cystinuria, and pentosuria at age 100 in 2008.

Authors:  Charles R Scriver
Journal:  J Inherit Metab Dis       Date:  2008-10-12       Impact factor: 4.982

2.  Expression of tyrosine pathway enzymes in mice demonstrates that homogentisate 1,2-dioxygenase deficiency in the liver is responsible for homogentisic acid-derived ochronotic pigmentation.

Authors:  Peter J M Wilson; Lakshminarayan R Ranganath; George Bou-Gharios; James A Gallagher; Juliette H Hughes
Journal:  JIMD Rep       Date:  2020-11-12
  2 in total

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