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Compound Heterozygous PGM3 Mutations in a Thai Patient with a Specific Antibody Deficiency Requiring Monthly IVIG Infusions.
Ittiwut, Chupong; Manuyakorn, Wiparat; Tongkobpetch, Siraprapa; Benjaponpitak, Suwat; Fisher, Megan R; Milner, Joshua D; Lyons, Jonathan J; Suphapeetiporn, Kanya; Shotelersuk, Vorasuk.
Afiliação
  • Ittiwut C; Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand.
  • Manuyakorn W; Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, 10330, Thailand.
  • Tongkobpetch S; Division of Allergy and Immunology, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Rama 6 Rd., Ratchathewi, Bangkok, 10400, Thailand. mwiparat@hotmail.com.
  • Benjaponpitak S; Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand.
  • Fisher MR; Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, 10330, Thailand.
  • Milner JD; Interdisciplinary Program of Biomedical Sciences, Graduate School, Chulalongkorn University, Bangkok, 10330, Thailand.
  • Lyons JJ; Division of Allergy and Immunology, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Rama 6 Rd., Ratchathewi, Bangkok, 10400, Thailand.
  • Suphapeetiporn K; Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, MD, USA.
  • Shotelersuk V; Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, MD, USA.
J Clin Immunol ; 40(1): 227-231, 2020 01.
Article em En | MEDLINE | ID: mdl-31707513
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fosfoglucomutase / Imunoglobulinas Intravenosas / Doenças da Imunodeficiência Primária / Mutação Limite: Humans / Male País/Região como assunto: Asia Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fosfoglucomutase / Imunoglobulinas Intravenosas / Doenças da Imunodeficiência Primária / Mutação Limite: Humans / Male País/Região como assunto: Asia Idioma: En Ano de publicação: 2020 Tipo de documento: Article