@article{3087161,
    title = "Identification of five mutations in a patient with galactose metabolic disorders",
    author = "Schulpis, K.H. and Thodi, G. and Iakovou, K. and Dotsikas, Y. and Molou, E. and Loukas, Y.L.",
    journal = "Journal of Pediatric Endocrinology and Metabolism",
    year = "2018",
    volume = "31",
    number = "2",
    pages = "221-222",
    publisher = "Walter de Gruyter GmbH",
    doi = "10.1515/jpem-2017-0438",
    keywords = "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"
}