Problems encountered in the diagnosis of galactosaemia
作者:
FRANK OBERKLAID,
DAVID M. DANKS,
HAROLD E. DAVIES,
期刊:
Journal of Paediatrics and Child Health
(WILEY Available online 1976)
卷期:
Volume 12,
issue 1
页码: 14-18
ISSN:1034-4810
年代: 1976
DOI:10.1111/j.1440-1754.1976.tb02828.x
出版商: Blackwell Publishing Ltd
数据来源: WILEY
摘要:
Oberklaid, F., Danks, D.M. and Davies, H.E. (1976). Aust. paediat. J., 12 14–18. Problems encountered in the diagnosis of galactosaemia. A review of 10 babies with galactosaemia revealed wide variation in the mode of clinical presentation, and emphasized the importance of constant vigilance to ensure that the diagnosis is not missed. Diagnosis is simple provided that the possibility of galactosaemia is remembered in young babies with a wide range of rather non‐specific symptoms. The advent of neonatal screening will not diminsh the need for vigilance because babies with galactosaemia may become ill and even die before the result of the screening test is availa
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