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The Galactose Index measured in fibroblasts of GALT deficie..:
Welsink-Karssies, Mendy M.
;
van Weeghel, Michel
;
Hollak, Carla E.M.
...
Molecular Genetics and Metabolism. 129 (2020) 3 - p. 171-176 , 2020
Link:
https://doi.org/10.1016/j.ymgme.2020.01.002
RT Journal T1
The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.ymgme.2020.01.002&Exemplar=1&LAN=DE A1 Welsink-Karssies, Mendy M. A1 van Weeghel, Michel A1 Hollak, Carla E.M. A1 Elfrink, Hyung L. A1 Janssen, Mirian C.H. A1 Lai, Kent A1 Langendonk, Janneke G. A1 Oussoren, Esmee A1 Ruiter, Jos P.N. A1 Treacy, Eileen P. A1 de Vries, Maaike A1 Ferdinandusse, Sacha A1 Bosch, Annet M. PB Elsevier BV YR 2020 SN 1096-7192 JF Molecular Genetics and Metabolism VO 129 IS 3 SP 171 OP 176 LK http://dx.doi.org/https://doi.org/10.1016/j.ymgme.2020.01.002 DO https://doi.org/10.1016/j.ymgme.2020.01.002 SF ELIB - SuUB Bremen
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