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Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients.
Tim-Aroon, Thipwimol; Wichajarn, Khunton; Katanyuwong, Kamornwan; Tanpaiboon, Pranoot; Vatanavicharn, Nithiwat; Sakpichaisakul, Kullasate; Kongkrapan, Arthaporn; Eu-Ahsunthornwattana, Jakris; Thongpradit, Supranee; Moolsuwan, Kanya; Satproedprai, Nusara; Mahasirimongkol, Surakameth; Lerksuthirat, Tassanee; Suktitipat, Bhoom; Jinawath, Natini; Wattanasirichaigoon, Duangrurdee.
Afiliação
  • Tim-Aroon T; Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
  • Wichajarn K; Department of Pediatrics, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand.
  • Katanyuwong K; Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.
  • Tanpaiboon P; Children's National Rare Disease Institute, Children's National Hospital, Washington, DC, USA.
  • Vatanavicharn N; Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
  • Sakpichaisakul K; Division of Neurology, Department of Pediatrics, Queen Sirikit National Institute of Child Health, Ministry of Public Health, Bangkok, Thailand.
  • Kongkrapan A; College of Medicine, Rangsit University, Bangkok, Thailand.
  • Eu-Ahsunthornwattana J; Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
  • Thongpradit S; Department of Community Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
  • Moolsuwan K; Research Center, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
  • Satproedprai N; Program in Translational Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
  • Mahasirimongkol S; Department of Medical Science, Ministry of Public Health, Nonthaburi, Thailand.
  • Lerksuthirat T; Department of Medical Science, Ministry of Public Health, Nonthaburi, Thailand.
  • Suktitipat B; Research Center, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
  • Jinawath N; Department of Biochemistry, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
  • Wattanasirichaigoon D; Integrative Computational Bioscience Center, Mahidol University, Salaya, Nakhon Pathom, Thailand.
BMC Pediatr ; 21(1): 22, 2021 01 07.
Article em En | MEDLINE | ID: mdl-33407268
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Sandhoff / Cadeia beta da beta-Hexosaminidase Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Child, preschool / Humans País/Região como assunto: Asia Idioma: En Revista: BMC Pediatr Assunto da revista: PEDIATRIA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Tailândia
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Sandhoff / Cadeia beta da beta-Hexosaminidase Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Child, preschool / Humans País/Região como assunto: Asia Idioma: En Revista: BMC Pediatr Assunto da revista: PEDIATRIA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Tailândia