Τίτλος:
Partial biotinidase deficiency: Identification of a single novel mutation (p.H314R) in a Greek newborn
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Δεν υπάρχει περίληψη
Συγγραφείς:
Thodi, G.
Schulpis, K.H.
Hatzidaki, M.
Molou, E.
Triantafylli, O.
Dotsikas, Y.
Loukas, Y.L.
Περιοδικό:
Journal of Pediatric Endocrinology and Metabolism
Εκδότης:
Walter de Gruyter GmbH
Λέξεις-κλειδιά:
biotin; biotinidase, allele; asymptomatic disease; biotinidase deficiency; case report; computer model; diagnostic accuracy; enzyme activity; exon; gene mutation; genotype; Greek (people); human; Letter; mutational analysis; newborn; pathogenicity; prophylaxis; sensitivity and specificity; adolescent; adult; case control study; child; female; follow up; infant; male; Neoplasms; pathology; preschool child; prognosis; prospective study; survival rate; young adult, Adolescent; Adult; Case-Control Studies; Child; Child, Preschool; Female; Follow-Up Studies; Humans; Infant; Male; Neoplasms; Prognosis; Prospective Studies; Survival Rate; Young Adult
DOI:
10.1515/jpem-2015-0387
