Novel mutations in children with profound biotinidase deficiency from Saudi Arabia.

Pomponio, R J; Ozand, P T; Al Essa, M; Wolf, B

Pomponio, R J; Ozand, P T; Al Essa, M; Wolf, B.

Affiliation

Pomponio RJ; Department of Human Genetics, Medical College of Virginia of Virginia Commonwealth University, Richmond 23298, USA.

J Inherit Metab Dis ; 23(2): 185-7, 2000 Mar.

Article in En | MEDLINE | ID: mdl-10801060

Subject(s)

Amidohydrolases/deficiency; Amidohydrolases/genetics; Mutation/genetics; Alleles; Biotin/metabolism; Biotinidase; Child, Preschool; DNA/analysis; DNA/genetics; Humans; Infant; Infant, Newborn; Molecular Sequence Data; Mutation, Missense/genetics; Reverse Transcriptase Polymerase Chain Reaction; Saudi Arabia; Sequence Deletion/genetics

Search on Google

Add to My VHL

XML

PubMed Links

Collection: 01-internacional Database: MEDLINE Main subject: Amidohydrolases / Mutation Limits: Child, preschool / Humans / Infant / Newborn Country/Region as subject: Asia Language: En Journal: J Inherit Metab Dis Year: 2000 Document type: Article Affiliation country: United States Country of publication: United States

Search on Google

Add to My VHL

XML

PubMed Links