Loading...

Detection of carbamyl phosphate synthetase 1 deficiency using duodenal biopsy samples.

The activity of urea cycle enzymes was assayed in duodenal biopsy specimens obtained from a female infant who presented with neonatal hyperammonaemia. All enzyme levels were normal except N-acetyl glutamate-dependent carbamyl phosphate synthetase 1 (CPS1) which was half the mean activity in normal c...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Main Authors: Hoogenraad, N J, Mitchell, J D, Don, N A, Sutherland, T M, Mc Leay, A C
Format: Artigo
Sprog:Inglês
Udgivet: 1980
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1626844/
https://ncbi.nlm.nih.gov/pubmed/7416778
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!