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Congenital disorder of glycosylation with defective fucosylation 2 (FCSK gene defect): The third report in the literature with a mild phenotype.
Al Tuwaijri, Abeer; Alyafee, Yusra; Umair, Muhammad; Alsubait, Arwa; Alharbi, Mashael; AlEidi, Hamad; Ballow, Mariam; Aldrees, Mohammed; Alam, Qamre; Al Abdulrahman, Abdulkareem; Alrifai, Muhammad Talal; Alfadhel, Majid.
Afiliación
  • Al Tuwaijri A; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia.
  • Alyafee Y; King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.
  • Umair M; Clinical Laboratory Sciences Department, College of Applied Medical Sciences, King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), Riyadh, Saudi Arabia.
  • Alsubait A; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia.
  • Alharbi M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia.
  • AlEidi H; King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.
  • Ballow M; King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.
  • Aldrees M; Medical Research Core Facilities and Platforms, King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia.
  • Alam Q; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia.
  • Al Abdulrahman A; King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.
  • Alrifai MT; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia.
  • Alfadhel M; King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.
Mol Genet Genomic Med ; 11(4): e2117, 2023 04.
Article en En | MEDLINE | ID: mdl-36426412
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastornos Congénitos de Glicosilación / Exoma Límite: Humans Idioma: En Revista: Mol Genet Genomic Med Año: 2023 Tipo del documento: Article País de afiliación: Arabia Saudita
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastornos Congénitos de Glicosilación / Exoma Límite: Humans Idioma: En Revista: Mol Genet Genomic Med Año: 2023 Tipo del documento: Article País de afiliación: Arabia Saudita