TY - JOUR
TI - Partial biotinidase deficiency: Identification of a single novel mutation (p.H314R) in a Greek newborn
AU - Thodi, G.
AU - Schulpis, K.H.
AU - Hatzidaki, M.
AU - Molou, E.
AU - Triantafylli, O.
AU - Dotsikas, Y.
AU - Loukas, Y.L.
JO - Journal of Pediatric Endocrinology and Metabolism
PY - 2016
VL - 29
TODO - 3
SP - 389-390
PB - Walter de Gruyter GmbH
SN - null
TODO - 10.1515/jpem-2015-0387
TODO - 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
TODO - null
ER -