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First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children.
Senanayake, Danika Nadeen; Jasinge, Eresha A; Pindolia, Kirit; Wanigasinghe, Jithangi; Monaghan, Kristin; Suchy, Sharon F; Wei, Sainan; Jaysena, Subashini; Wolf, Barry.
Afiliação
  • Senanayake DN; Department of Chemical Pathology, North Columbo Teaching Hospital, Columbo, Sri Lanka.
  • Jasinge EA; Chemical Pathology, Lady Ridgeway Hospital for Children, Colombo, Sri Lanka.
  • Pindolia K; Department of Research Administration, Henry Ford Health System, Detroit, MI 48202, United States.
  • Wanigasinghe J; Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI 48201, United States.
  • Monaghan K; Pediatric Neurology, University of Colombo, Columbo, Sri Lanka.
  • Suchy SF; GeneDx, Gaithersburg, MD 20877, United States.
  • Wei S; GeneDx, Gaithersburg, MD 20877, United States.
  • Jaysena S; Department of Pediatrics and Human Development, Michigan State University, East Lansing, MI 48824, United States.
  • Wolf B; Chemical Pathology, Lady Ridgeway Hospital for Children, Colombo, Sri Lanka.
Mol Genet Metab Rep ; 2: 81-84, 2015 Mar.
Article em En | MEDLINE | ID: mdl-28649532
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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: Mol Genet Metab Rep Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Sri Lanka
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: Mol Genet Metab Rep Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Sri Lanka