The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes
Title:
The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes
Author:
Welsink-Karssies, Mendy M. van Weeghel, Michel Hollak, Carla E.M. Elfrink, Hyung L. Janssen, Mirian C.H. Lai, Kent Langendonk, Janneke G. Oussoren, Esmee Ruiter, Jos P.N. Treacy, Eileen P. de Vries, Maaike Ferdinandusse, Sacha Bosch, Annet M.