Triosephosphate Isomerase Deficiency: E105D Mutation in Unrelated Patients and Review of the Literature.

Selamioglu, Arzu; Karaca, Meryem; Balci, Mehmet Cihan; Körbeyli, Hüseyin Kutay; Durmus, Asli; Yildiz, Edibe Pembegül; Karaman, Serap; Gökçay, Gülden Fatma.

Afiliação

Selamioglu A; Division of Paediatric Metabolism, Department of Paediatrics, Istanbul University Faculty of Medicine, Istanbul, Turkey.
Karaca M; Division of Paediatric Metabolism, Department of Paediatrics, Istanbul University Faculty of Medicine, Istanbul, Turkey.
Balci MC; Division of Paediatric Metabolism, Department of Paediatrics, Istanbul University Faculty of Medicine, Istanbul, Turkey.
Körbeyli HK; Division of Paediatric Metabolism, Department of Paediatrics, Istanbul University Faculty of Medicine, Istanbul, Turkey.
Durmus A; Division of Paediatric Metabolism, Department of Paediatrics, Istanbul University Faculty of Medicine, Istanbul, Turkey.
Yildiz EP; Division of Paediatric Neurology, Department of Pediatrics, Istanbul University Faculty of Medicine, Istanbul, Turkey.
Karaman S; Division of Paediatric Haematology-Oncology, Department of Pediatrics, Istanbul University Faculty of Medicine, Istanbul, Turkey.
Gökçay GF; Division of Paediatric Metabolism, Department of Paediatrics, Istanbul University Faculty of Medicine, Istanbul, Turkey.

Mol Syndromol ; 14(3): 231-238, 2023 Jun.

Article em En | MEDLINE | ID: mdl-37323194