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Late diagnosis of a rare multisystemic genetic disorder: Transaldolase deficiency due to homozygous TALDO1 c.345dupA variant.
Dirim, Ahmet Burak; Kalayci, Tugba; Safak, Seda; Garayeva Guller, Nurane; Oto, Ozgur Akin; Artan, Ayse Serra; Ozturk, Sukru; Yazici, Halil.
Afiliación
  • Dirim AB; Department of Internal Medicine, Division of Nephrology, Istanbul University, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Kalayci T; Department of Genetics, Istanbul University, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Graduate School of Health Sciences, Istanbul, Turkey.
  • Safak S; Department of Genetics, Istanbul University, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Graduate School of Health Sciences, Istanbul, Turkey.
  • Garayeva Guller N; Department of Genetics, Istanbul University, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Oto OA; Department of Internal Medicine, Division of Nephrology, Istanbul University, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Artan AS; Department of Internal Medicine, Division of Nephrology, Istanbul University, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Ozturk S; Department of Internal Medicine, Division of Nephrology, Istanbul University, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Yazici H; Department of Internal Medicine, Division of Nephrology, Istanbul University, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Nephrology (Carlton) ; 29(1): 55-56, 2024 01.
Article en En | MEDLINE | ID: mdl-37740560
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Errores Innatos del Metabolismo de los Carbohidratos / Diagnóstico Tardío Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: Nephrology (Carlton) Asunto de la revista: NEFROLOGIA Año: 2024 Tipo del documento: Article País de afiliación: Turquía
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Errores Innatos del Metabolismo de los Carbohidratos / Diagnóstico Tardío Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: Nephrology (Carlton) Asunto de la revista: NEFROLOGIA Año: 2024 Tipo del documento: Article País de afiliación: Turquía