Holocarboxylase synthetase deficiency: Novel clinical and molecular findings

Clinical Genetics

Volumn 78, Issue 1, 2010, Pages 88-93

  Tammachote, R ^a   Janklat, S ^a   Tongkobpetch, S ^a   Suphapeetiporn, K ^a   Shotelersuk, V ^a  

^a CHULALONGKORN UNIVERSITY   (Thailand)

Author keywords

Haplotype analysis; HLCS; Holocarboxylase synthetase deficiency; Low dose biotin; Mutations; Thai

Indexed keywords

BIOTIN;

ARTICLE; BIOTINIDASE DEFICIENCY; CASE REPORT; CHILD; CLINICAL ASSESSMENT; DISORDERS OF CARBOHYDRATE METABOLISM; DOSE RESPONSE; FEMALE; GENE MUTATION; HUMAN; INFANT; LOW DRUG DOSE; MALE; MOLECULAR GENETICS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCHOOL CHILD; ETHNOLOGY; GENETICS; HAPLOTYPE; HOLOCARBOXYLASE SYNTHETASE DEFICIENCY; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRESCHOOL CHILD; THAILAND;

BIOTIN; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; HAPLOTYPES; HOLOCARBOXYLASE SYNTHETASE DEFICIENCY; HUMANS; INFANT; MALE; POINT MUTATION; THAILAND;

EID: 77954611988     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01357.x     Document Type: Article

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