Whole exome sequencing analysis in a couple with three children who died prematurely due to carnitine-acylcarnitine translocase deficiency.

Tran, Van Khanh; Diep, Quang Minh; Qiu, Zilong; Le, Thi Phuong; Do, Long Duy; Tran, Hai Anh; Bui, The-Hung; Ta, Thanh Van; Tran, Thinh Huy

Tran, Van Khanh; Diep, Quang Minh; Qiu, Zilong; Le, Thi Phuong; Do, Long Duy; Tran, Hai Anh; Bui, The-Hung; Ta, Thanh Van; Tran, Thinh Huy.

Affiliation

Tran VK; Hanoi Medical University, Hanoi, Viet Nam.
Diep QM; Quang Ninh Hospital for Obstetric and Pediatric, Quang Ninh, Viet Nam.
Qiu Z; BGI Genomics, BGI-Shenzhen, Shenzhen 518083, China.
Le TP; Hanoi Medical University, Hanoi, Viet Nam.
Do LD; Quang Ninh Hospital for Obstetric and Pediatric, Quang Ninh, Viet Nam.
Tran HA; Hanoi Medical University, Hanoi, Viet Nam.
Bui TH; Hanoi Medical University, Hanoi, Viet Nam; Center for Molecular Medicine, Clinical Genetics Unit, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden.
Ta TV; Hanoi Medical University, Hanoi, Viet Nam.
Tran TH; Hanoi Medical University, Hanoi, Viet Nam. Electronic address: tranhuythinh@hmu.edu.vn.

Taiwan J Obstet Gynecol ; 61(1): 153-156, 2022 Jan.

Article in En | MEDLINE | ID: mdl-35181030

Subject(s)
Key words

Carnitine-acylcarnitine translocase deficiency; Endocrinology and metabolic disorders; Fatty acid ß-oxidation; Mutation analysis; SLA25A20; Whole exome sequencing

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Membrane Transport Proteins / Carnitine Acyltransferases / Premature Birth / Lipid Metabolism, Inborn Errors Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Newborn / Pregnancy Language: En Journal: Taiwan J Obstet Gynecol Journal subject: GINECOLOGIA / OBSTETRICIA Year: 2022 Document type: Article

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