Molecular and clinical characterization of citrin deficiency in a cohort of Chinese patients in Hong Kong

Background and objectives: This retrospective study analysed a case series of subjects with citrin deficiency, and aims to present the molecular and clinical characterization of this disease in the Hong Kong Chinese population for the first time. Patients and Methods: Data from medical records of ei...

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Detalles Bibliográficos
Autores principales: Chong, S.C., Lo, P., Chow, C.W., Yuen, L., Chu, W.C.W., Leung, T.Y., Hui, J., Scaglia, F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6120422/
https://www.ncbi.nlm.nih.gov/pubmed/30181955
http://dx.doi.org/10.1016/j.ymgmr.2018.08.002

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6120422/
https://www.ncbi.nlm.nih.gov/pubmed/30181955
http://dx.doi.org/10.1016/j.ymgmr.2018.08.002

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