Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population
Abstract Expanded newborn screening facilitates early identification and intervention of patients with inborn errors of metabolism (IEMs), There is a lack of disease spectrum data for many areas in China. To determine the disease spectrum and genetic characteristics of IEMs in Xi'an city of Sha...
Enregistré dans:
Auteurs principaux: | Ruixue Zhang, Rong Qiang, Chengrong Song, Xiaoping Ma, Yan Zhang, Fengxia Li, Rui Wang, Wenwen Yu, Mei Feng, Lihui Yang, Xiaobin Wang, Na Cai |
---|---|
Format: | article |
Langue: | EN |
Publié: |
Nature Portfolio
2021
|
Sujets: | |
Accès en ligne: | https://doaj.org/article/6725545773d44cf1ba4a1fe99a38cce8 |
Tags: |
Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!
|
Documents similaires
-
Endocrinopathies in Inborn Errors of Immunity
par: Kei Takasawa, et autres
Publié: (2021) -
Monogenic Adult-Onset Inborn Errors of Immunity
par: Frederik Staels, et autres
Publié: (2021) -
Validation of amplicon-based next generation sequencing panel for second-tier test in newborn screening for inborn errors of metabolism
par: Tsang Kwok Yeung, et autres
Publié: (2021) -
Diagnosis and Management of Inborn Errors of Metabolism in Adult Patients in the Emergency Department
par: Isabel Solares, et autres
Publié: (2021) -
Amadori rearrangement products as potential biomarkers for inborn errors of amino-acid metabolism
par: Rianne E. van Outersterp, et autres
Publié: (2021)