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Successful treatment of severe carbamyl phosphate synthetase I deficiency.

We describe a girl with neonatal hyperammonaemia due to carbamyl phosphate synthetase I deficiency. Treatment consisted of protein restriction from the second day of life. Sodium benzoate was given for three weeks after birth and again from 7 months of age together with sodium phenylacetate to impro...

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Bibliografiske detaljer
Main Authors: Van de Bor, M, Mooy, P, van Zoeren, D, Berger, R, van Gelderen, H H, Teijema, H L
Format: Artigo
Sprog:Inglês
Udgivet: 1984
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1628919/
https://ncbi.nlm.nih.gov/pubmed/6524951
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