Τίτλος:
Rare cases of galactose metabolic disorders: Identification of more than two mutations per patient
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Δεν υπάρχει περίληψη
Συγγραφείς:
Schulpis, K.H.
Thodi, G.
Chatzidaki, M.
Iakovou, K.
Molou, E.
Dotsikas, Y.
Loukas, Y.L.
Περιοδικό:
Journal of Pediatric Endocrinology and Metabolism
Εκδότης:
Walter de Gruyter GmbH
Λέξεις-κλειδιά:
galactose; galactose 1 phosphate uridylyltransferase; uridine diphosphate glucose 4 epimerase; galactokinase; galactose; galactose 1 phosphate uridylyltransferase; uridine diphosphate glucose 4 epimerase, child; clinical article; Duarte 2 gene; enzyme activity; enzyme deficiency; female; galactose 1 phosphate uridylyltransferase deficiency; galactosemia; GALE gene; GALT gene; gene; gene mutation; Greece; human; Letter; mutational analysis; newborn; preschool child; psychomotor development; rare disease; Sanger sequencing; speech delay; speech development; uridine diphosphate galactose 4 epimerase deficiency; galactosemia; genetics; metabolism; mutation; newborn screening, Galactokinase; Galactose; Galactosemias; Humans; Infant, Newborn; Mutation; Neonatal Screening; UDPglucose 4-Epimerase; UTP-Hexose-1-Phosphate Uridylyltransferase
DOI:
10.1515/jpem-2017-0263
