High frequencies of biotinidase (BTD) gene mutations in the Hungarian population

Journal of Inherited Metabolic Disease

Volumn 33, Issue SUPPL. 3, 2010, Pages

  Milánkovics, Ilona ^a   Németh, Krisztina ^a   Somogyi, Csilla ^b   Schuler, Ágnes ^c   Fekete, György ^a  

^a SEMMELWEIS UNIVERSITY   (Hungary)

^b Buda Children's Hospital   (Hungary)

^c Health Service of Zugló ZESZ   (Hungary)

Author keywords

[No Author keywords available]

Indexed keywords

BIOTINIDASE;

ADULT; ARTICLE; BIOTINIDASE DEFICIENCY; CASE CONTROL STUDY; ENZYMOLOGY; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; HUMAN; HUNGARY; INCIDENCE; MALE; METHODOLOGY; MIDDLE AGED; MUTATION; NEWBORN; NEWBORN SCREENING; NUCLEOTIDE SEQUENCE; PREDICTIVE VALUE; YOUNG ADULT; PROCEDURES;

ADULT; BIOTINIDASE; BIOTINIDASE DEFICIENCY; CASE-CONTROL STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; HUNGARY; INCIDENCE; INFANT, NEWBORN; MALE; MIDDLE AGED; MUTATION; NEONATAL SCREENING; PREDICTIVE VALUE OF TESTS; YOUNG ADULT;

EID: 84897920431     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-010-9152-0     Document Type: Article

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