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

Dirim, Ahmet Burak; Kalayci, Tugba; Safak, Seda; Garayeva Guller, Nurane; Oto, Ozgur Akin; Artan, Ayse Serra; Ozturk, Sukru; Yazici, Halil.

Afiliação

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 em En | MEDLINE | ID: mdl-37740560

Assuntos

Erros Inatos do Metabolismo dos Carboidratos; Diagnóstico Tardio; Humanos; Erros Inatos do Metabolismo dos Carboidratos/genética; Transaldolase/genética

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Erros Inatos do Metabolismo dos Carboidratos / Diagnóstico Tardio Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Ano de publicação: 2024 Tipo de documento: Article

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