International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up-Reference-Cited by-同舟云学术

International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up

Published:2016-11-17 Issue:2 Volume:40 Page:171-176
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Welling Lindsey, ,Bernstein Laurie E.,Berry Gerard T.,Burlina Alberto B.,Eyskens François,Gautschi Matthias,Grünewald Stephanie,Gubbels Cynthia S.,Knerr Ina,Labrune Philippe,van der Lee Johanna H.,MacDonald Anita,Murphy Elaine,Portnoi Pat A.,Õunap Katrin,Potter Nancy L.,Rubio-Gozalbo M. Estela,Spencer Jessica B.,Timmers Inge,Treacy Eileen P.,Van Calcar Sandra C.,Waisbren Susan E.,Bosch Annet M.

Funder

Nederlandse Organisatie voor Wetenschappelijk Onderzoek

US Galactosemia Foundation

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10545-016-9990-5.pdf

Reference1 articles.

1. Calderon FRO, Nelson L, Dobrowolski P et al (2007) Combination of enzyme analysis, allele-specific PCR and sequencing to detect mutations in the GALT gene. J Inherit Metab Dis 30:818. doi: 10.1007/s10545-007-0461-x

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