@article{3087551,
    title = "Partial biotinidase deficiency: Identification of a single novel mutation (p.H314R) in a Greek newborn",
    author = "Thodi, G. and Schulpis, K.H. and Hatzidaki, M. and Molou, E. and Triantafylli, O. and Dotsikas, Y. and Loukas, Y.L.",
    journal = "Journal of Pediatric Endocrinology and Metabolism",
    year = "2016",
    volume = "29",
    number = "3",
    pages = "389-390",
    publisher = "Walter de Gruyter GmbH",
    doi = "10.1515/jpem-2015-0387",
    keywords = "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"
}