Nine years of newborn screening for classical galactosemia in the Netherlands: Effectiveness of screening methods, and identification of patients with previously unreported phenotypes-Reference-Cited by-同舟云学术

Nine years of newborn screening for classical galactosemia in the Netherlands: Effectiveness of screening methods, and identification of patients with previously unreported phenotypes

Published:2017-03 Issue:3 Volume:120 Page:223-228
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Welling Lindsey,Boelen Anita,Derks Terry G.J.,Schielen Peter C.J.I.,de Vries Maaike,Williams Monique,Wijburg Frits A.,Bosch Annet M.

Funder

Stichting Stofwisselkracht

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference17 articles.

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2. Classical galactosaemia in Ireland: incidence, complications and outcomes of treatment;Coss;J. Inherit. Metab. Dis.,2013

3. Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programme;Couce;Mol. Genet. Metab.,2011

4. Duarte Variant Galactosemia;Fridovich-Keil,2014

5. A review of the psychosocial effects of false-positive results on parents and current communication practices in newborn screening;Hewlett;J. Inherit. Metab. Dis.,2006

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