Work

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

Year: 2023

Type: article

Source: Nephrology

DOI: 10.1111/nep.14243

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

Institution: Istanbul University

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W4386979667

FWCI: 0.786

Cites: 3

Cited by: 4

Related to: 10