title: Partial biotinidase deficiency: identification of a single novel mutation (p.H314R) in a Greek newborn.
authors.forename: Georgia
authors.initials: G
authors.lastname: Thodi
authors.forename: Kleopatra H
authors.initials: KH
authors.lastname: Schulpis
authors.forename: Maria
authors.initials: M
authors.lastname: Hatzidaki
authors.forename: Elina
authors.initials: E
authors.lastname: Molou
authors.forename: Olga
authors.initials: O
authors.lastname: Triantafylli
authors.forename: Yannis
authors.initials: Y
authors.lastname: Dotsikas
authors.forename: Yannis L
authors.initials: YL
authors.lastname: Loukas
mesh_terms: D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008297:Male; D009369:Neoplasms / Q000188:drug therapy* / Q000473:pathology; D011379:Prognosis; D011446:Prospective Studies; D015996:Survival Rate; D055815:Young Adult