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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.
Affiliation
  • 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 in En | MEDLINE | ID: mdl-37740560
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Carbohydrate Metabolism, Inborn Errors / Delayed Diagnosis Type of study: Diagnostic_studies Limits: Humans Language: En Journal: Nephrology (Carlton) Journal subject: NEFROLOGIA Year: 2024 Type: Article Affiliation country: Turkey
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Carbohydrate Metabolism, Inborn Errors / Delayed Diagnosis Type of study: Diagnostic_studies Limits: Humans Language: En Journal: Nephrology (Carlton) Journal subject: NEFROLOGIA Year: 2024 Type: Article Affiliation country: Turkey