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Biochemical investigation of histidinaemia

A 6-month-old child with a history of recurrent infections, convulsions, and retarded development had biochemical findings which were typical of histidinaemia. The enzyme histidase has been shown to be absent from the skin of the patient. The results of histidine-loading experiments in the parents o...

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Detalhes bibliográficos
Main Authors: Holton, J. B., Lewis, F. J. W., Moore, G. R.
Formato: Artigo
Idioma:Inglês
Publicado em: 1964
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC480855/
https://ncbi.nlm.nih.gov/pubmed/14227438
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