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Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families.
Al Busaidi, Marwa; Mohamed, Feda E; Al-Ajmi, Eiman; Al Hashmi, Nadia; Al-Thihli, Khalid; Al Futaisi, Amna; Al Mamari, Watfa; Al-Murshedi, Fathiya; Al-Jasmi, Fatma.
Afiliación
  • Al Busaidi M; College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.
  • Mohamed FE; Genetics and Genomics Department, College of Medicine and Health Sciences, United Arab Emirates University, P. O. Box 1555, Al Ain, United Arab Emirates.
  • Al-Ajmi E; ASPIRE Precision Medicine Research Institute Abu Dhabi, United Arab Emirates University, Al Ain, United Arab Emirates.
  • Al Hashmi N; Department of Radiology and Molecular Imaging, Sultan Qaboos University Hospital, Muscat, Oman.
  • Al-Thihli K; Department of Pediatrics, The Royal Hospital, Muscat, Oman.
  • Al Futaisi A; Department of Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, P.O. Box 38, Muscat, Alkoudh, 123, Oman.
  • Al Mamari W; Department of Child Health, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.
  • Al-Murshedi F; Department of Child Health, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.
  • Al-Jasmi F; Department of Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, P.O. Box 38, Muscat, Alkoudh, 123, Oman. murshedi@squ.edu.om.
Orphanet J Rare Dis ; 18(1): 344, 2023 Nov 03.
Article en En | MEDLINE | ID: mdl-37924129
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Fosfoenolpiruvato Carboxiquinasa (GTP) / Encefalopatías / Péptidos y Proteínas de Señalización Intracelular / Hipoglucemia / Hepatopatías Límite: Humans / Newborn Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2023 Tipo del documento: Article País de afiliación: Omán
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Fosfoenolpiruvato Carboxiquinasa (GTP) / Encefalopatías / Péptidos y Proteínas de Señalización Intracelular / Hipoglucemia / Hepatopatías Límite: Humans / Newborn Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2023 Tipo del documento: Article País de afiliación: Omán