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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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Autores principales: Holton, J. B., Lewis, F. J. W., Moore, G. R.
Formato: Artigo
Lenguaje:Inglês
Publicado: 1964
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC480855/
https://ncbi.nlm.nih.gov/pubmed/14227438
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