Τίτλος:
Identification of five mutations in a patient with galactose metabolic disorders
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Δεν υπάρχει περίληψη
Συγγραφείς:
Schulpis, K.H.
Thodi, G.
Iakovou, K.
Dotsikas, Y.
Molou, E.
Loukas, Y.L.
Περιοδικό:
Journal of Pediatric Endocrinology and Metabolism
Εκδότης:
Walter de Gruyter GmbH
Λέξεις-κλειδιά:
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
DOI:
10.1515/jpem-2017-0438
