Diagnosis, treatment, follow-up and gene mutation analysis in four Chinese children with biotinidase deficiency

Journal of Inherited Metabolic Disease

Volumn 32, Issue SUPPL. 1, 2009, Pages

  Ye, J ^a   Wang, T ^a   Han, L S ^a   Qiu, W J ^a   Zhang, H W ^a   Zhang, Y F ^a   Gao, X L ^a   Wang, Y ^a   Gu, X F ^a  

^a SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

Author keywords

[No Author keywords available]

Indexed keywords

BIOTIN; BIOTINIDASE;

ARTICLE; ASIAN; BIOTINIDASE DEFICIENCY; CASE REPORT; CHILD; CHINA; EXON; FEMALE; GENETICS; HUMAN; INFANT; MALE; MUTATION; NEWBORN; NEWBORN SCREENING; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD;

ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; BIOTIN; BIOTINIDASE; BIOTINIDASE DEFICIENCY; CHILD; CHILD, PRESCHOOL; CHINA; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; NEONATAL SCREENING;

EID: 84880985455     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-1238-1     Document Type: Article

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