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Unraveling the molecular diagnosis of metaphyseal enchondromatosis with D-2-hydroxyglutaric aciduria: A 22-year quest.
Rattanapornsompong, Khanti; Chetruengchai, Wanna; Srichomthong, Chalurmpon; Theerapanon, Thanakorn; Porntaveetus, Thantrira; Shotelersuk, Vorasuk.
  • Rattanapornsompong K; Center of Excellence in Genomics and Precision Dentistry, Geriatric Dentistry and Special Patients Care Program, Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand.
  • Chetruengchai W; Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
  • Srichomthong C; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, Bangkok, Thailand.
  • Theerapanon T; Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
  • Porntaveetus T; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, Bangkok, Thailand.
  • Shotelersuk V; Center of Excellence in Genomics and Precision Dentistry, Geriatric Dentistry and Special Patients Care Program, Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand.
Am J Med Genet A ; 194(6): e63557, 2024 Jun.
Article en En | MEDLINE | ID: mdl-38305044
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Encefalopatías Metabólicas Innatas / Encondromatosis Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Año: 2024 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Encefalopatías Metabólicas Innatas / Encondromatosis Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Año: 2024 Tipo del documento: Article