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Problems encountered in the diagnosis of galactosaemia
Author(s) -
OBERKLAID FRANK,
DANKS DAVID M.,
DAVIES HAROLD E.
Publication year - 1976
Publication title -
journal of paediatrics and child health
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.631
H-Index - 76
eISSN - 1440-1754
pISSN - 1034-4810
DOI - 10.1111/j.1440-1754.1976.tb02828.x
Subject(s) - medicine , vigilance (psychology) , pediatrics , presentation (obstetrics) , intensive care medicine , surgery , cognitive psychology , psychology
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 available.