Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates
2022 · Orphanet Journal of Rare Diseases · 59 citations
https://doi.org/10.1186/s13023-022-02231-x
X
Xinwen Huang
Claim or correct this author profile
Claim this profile or suggest corrections to the name, affiliation, bio, photo, or paper titles. Approved changes appear as verified CitedEvidence overlays.
102
Papers
1.3K
Citations
21
h-index
37
i10-index
Xinwen Huang is an academic researcher from Children's Hospital of Zhejiang University. The author has contributed to research in topics: Metabolism and Genetic Disorders & Mitochondrial Function and Pathology & Folate and B Vitamins Research. The author has an h-index of 21, co-authored 87 publications.
ORCID: 0000-0003-1124-7044Papers by this author
worksThree years of follow-up of otodental syndrome in 3-year-old Chinese boy: a rare case report
2019 · BMC Oral Health · 6 citations
https://doi.org/10.1186/s12903-019-0860-z
China nationwide landscape of 16 types inherited metabolic disorders: a retrospective analysis on 372,255 clinical cases
2023 · Orphanet Journal of Rare Diseases · 3 citations
https://doi.org/10.1186/s13023-023-02834-y
Metabolic profiles and prediction of failure to thrive of citrin deficiency with normal liver function based on metabolomics and machine learning
2025 · Nutrition & Metabolism · 1 citations
https://doi.org/10.1186/s12986-025-00928-x
Variations of amino acid, free carnitine and acylarnitine profiles analysed by tandem mass spectrometry in newborns during their first four weeks of life
2015 · International Journal of Pediatric Endocrinology · 0 citations
https://doi.org/10.1186/1687-9856-2015-s1-p120
Additional file 2 of Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates
2022 · Figshare · 0 citations
https://doi.org/10.6084/m9.figshare.19219416
Research topics
topicsChat about Author
Papers
Chat
Click to start Chat