TY - JOUR
TI - Identification of five mutations in a patient with galactose metabolic disorders
AU - Schulpis, K.H.
AU - Thodi, G.
AU - Iakovou, K.
AU - Dotsikas, Y.
AU - Molou, E.
AU - Loukas, Y.L.
JO - Journal of Pediatric Endocrinology and Metabolism
PY - 2018
VL - 31
TODO - 2
SP - 221-222
PB - Walter de Gruyter GmbH
SN - null
TODO - 10.1515/jpem-2017-0438
TODO - bilirubin;  galactokinase;  galactose;  galactokinase;  GALK1 protein, human;  uridine diphosphate glucose 4 epimerase, allele;  artificial milk;  bilirubin blood level;  breast feeding;  case report;  clinical article;  disorders of carbohydrate metabolism;  DNA determination;  echography;  female;  galactose metabolic disorder;  galactosemia;  GALE gene;  GALK gene;  gene;  gene deletion;  gene mutation;  heterozygosity;  human;  hypertransaminasemia;  incidence;  infant;  jaundice;  Letter;  liver function test;  mutational analysis;  newborn;  newborn screening;  psychomotor development;  speech development;  genetics;  mutation;  pathology;  prognosis, Female;  Galactokinase;  Galactosemias;  Humans;  Infant, Newborn;  Mutation;  Prognosis;  UDPglucose 4-Epimerase
TODO - null
ER -