Literature DB >> 1146783

Histidinemia. Classical and atypical form in siblings.

M Anakura, I Matsuda, S Arashima, N Fukushima, Y Oka.   

Abstract

Two brothers, 6 and 13 years old, had histidinemia. On the basis of clinical and biochemical observations, the younger boy was considered to have a classical type of the disease, while the older boy had an atypical form characterized by partial impairment of the skin histidase activity and a moderately prolonged half-life of blood histidine. The mother is a heterozygous carrier, while the father and sister seem to be normal.

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Year:  1975        PMID: 1146783     DOI: 10.1001/archpedi.1975.02120440074017

Source DB:  PubMed          Journal:  Am J Dis Child        ISSN: 0002-922X


  1 in total

1.  Altered kinetic properties of skin histidase in two patients with histidinaemia.

Authors:  Y Kuroda; T Watanabe; M Ito; K Toshima; M Miyao
Journal:  J Inherit Metab Dis       Date:  1982       Impact factor: 4.982

  1 in total

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