The first Vietnamese patient who presented late onset of pantothenate kinase-associated neurodegeneration diagnosed by whole exome sequencing: A case report.

Van Khanh TranChi Dung VuHai Anh TranNguyen Thi Kim LienNguyen Van TungNguyen Ngoc LanHuy Thinh TranNguyen Huy Hoang

Published in: Medicine (2023)

The patient's case marks an important milestone for the first case in Vietnam. The results of the study will provide a scientific basis for clinicians in the diagnosis and genetic counseling of patients.

Keyphrases

late onset
end stage renal disease
case report
early onset
ejection fraction
chronic kidney disease
newly diagnosed
prognostic factors
gene expression
genome wide
smoking cessation
copy number