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A novel two-nucleotide deletion in the ATP7A gene associated with delayed infantile onset of Menkes disease.
Wada, Takahito; Haddad, Marie Reine; Yi, Ling; Murakami, Tomomi; Sasaki, Akiko; Shimbo, Hiroko; Kodama, Hiroko; Osaka, Hitoshi; Kaler, Stephen G.
Afiliación
  • Wada T; Department of Pediatric Neurology, Kanagawa Children's Medical Center, Yokohama, Kanagawa, Japan. Electronic address: takahito.wada0001@me.com.
  • Haddad MR; The Unit on Human Copper Metabolism, Molecular Medicine Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.
  • Yi L; The Unit on Human Copper Metabolism, Molecular Medicine Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.
  • Murakami T; Department of Pediatric Neurology, Kanagawa Children's Medical Center, Yokohama, Kanagawa, Japan.
  • Sasaki A; Department of Pediatric Neurology, Kanagawa Children's Medical Center, Yokohama, Kanagawa, Japan.
  • Shimbo H; Department of Pediatric Neurology, Kanagawa Children's Medical Center, Yokohama, Kanagawa, Japan.
  • Kodama H; Department of Health and Dietetics, Faculty of Health & Medical Sciences, Teikyo Heisei University, Tokyo, Japan.
  • Osaka H; Department of Pediatric Neurology, Kanagawa Children's Medical Center, Yokohama, Kanagawa, Japan.
  • Kaler SG; The Unit on Human Copper Metabolism, Molecular Medicine Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.
Pediatr Neurol ; 50(4): 417-20, 2014 Apr.
Article en En | MEDLINE | ID: mdl-24630286
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Adenosina Trifosfatasas / Proteínas de Transporte de Catión / Síndrome del Pelo Ensortijado Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans / Infant / Male Idioma: En Revista: Pediatr Neurol Asunto de la revista: NEUROLOGIA / PEDIATRIA Año: 2014 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Adenosina Trifosfatasas / Proteínas de Transporte de Catión / Síndrome del Pelo Ensortijado Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans / Infant / Male Idioma: En Revista: Pediatr Neurol Asunto de la revista: NEUROLOGIA / PEDIATRIA Año: 2014 Tipo del documento: Article Pais de publicación: Estados Unidos