TY  - GEN
AU  - Welsink-Karssies,Mendy M
AU  - van Weeghel,Michel
AU  - Hollak,Carla E M
AU  - Elfrink,Hyung L
AU  - Janssen,Mirian C H
AU  - Lai,Kent
AU  - Langendonk,Janneke G
AU  - Oussoren,Esmee
AU  - Ruiter,Jos P N
AU  - Treacy,Eileen P
AU  - de Vries,Maaike
AU  - Ferdinandusse,Sacha
AU  - Bosch,Annet M
TI  - The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes
SN  - 1096-7206
PY  - 2020///1123
KW  - Cohort Studies
KW  - Female
KW  - Fibroblasts
KW  - metabolism
KW  - Galactose
KW  - Galactosemias
KW  - diagnosis
KW  - Galactosephosphates
KW  - Genotype
KW  - Homozygote
KW  - Humans
KW  - Infant, Newborn
KW  - Intellectual Disability
KW  - Male
KW  - Movement Disorders
KW  - Neonatal Screening
KW  - Phenotype
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ymgme.2020.01.002
ER  -