Late diagnosis of a rare multisystemic genetic disorder: Transaldolase deficiency due to homozygous TALDO1 c.345dupA variant.

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作者： Ahmet Burak,Dirim ^[1] ; Tugba,Kalayci ^[2] ; Seda,Safak ^[2] ; Nurane,Garayeva Guller ^[3] ; Ozgur Akin,Oto ^[1] ; Ayse Serra,Artan ^[1] ; Sukru,Ozturk ^[1] ; Halil,Yazici ^[1]

作者单位： Department of Internal Medicine, Division of Nephrology, Istanbul University, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey. ^[1] Department of Genetics, Istanbul University, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Graduate School of Health Sciences, Istanbul, Turkey. ^[2] Department of Genetics, Istanbul University, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey. ^[3]

主题词人类(Humans);延迟诊断(Delayed Diagnosis);碳水化合物代谢障碍, 先天性(Carbohydrate Metabolism, Inborn Errors);转醛醇酶(Transaldolase)

DOI 10.1111/nep.14243

PMID 37740560

发布时间 2024-02-08

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准确一般字义偏差语意偏离译文作用小提交