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Inborn errors of metabolism around time of birth

Lookup NU author(s): Dr Andrew Morris


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Inborn errors of metabolism commonly present around the time of birth. Although most affected babies are born healthy and subsequently deteriorate, some disorders may present at (or shortly after) birth and a few may be detected by antenatal ultrosonography. In many cases, it is important that the diagnosis is made quickly and a strategy to identify those at high risk is proposed. Treatment should not be delayed for a definitive diagnosis.

Publication metadata

Author(s): Leonard JV, Morris AAM

Publication type: Review

Publication status: Published

Journal: Lancet

Year: 2000

Volume: 356

Issue: 9229

Pages: 583-587

ISSN (print): 0140-6736

ISSN (electronic): 1474-547X


DOI: 10.1016/S0140-6736(00)02591-5