Xinwen W. Huang
Hangzhou, 310051, China
Last Updated: 09/26/2026
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Found 82 publications
De Novo Heterozygous KDM3B Variants Expand the Mutational Spectrum of Diets-Jongmans Syndrome: Case Series and Literature Review.
Journal: Genes
Published: February 11, 2026
Guidelines for the diagnosis, treatment, and management of Citrin deficiency (2026 Edition)
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: February 09, 2026
Advancements and insights into newborn screening with tandem mass spectrometry in China: a comprehensive descriptive analysis (2017-2021).
Journal: BMJ paediatrics open
Published: December 13, 2025
Clinical analysis of a patient of Short rib-polydactyly syndrome type 6 with long term misdiagnosis
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: November 13, 2025
Neonatal screening for Duchenne muscular dystrophy in eastern China: a closed prospective study.
Journal: Translational pediatrics
Published: November 13, 2025
Newborn screening, genetic analysis, and long-term follow-up of 89 cases with short-chain acyl-CoA dehydrogenase deficiency (SCADD).
Journal: Molecular genetics and metabolism reports
Published: October 31, 2025
Metabolic signatures and a diagnostic model for citrin deficiency based on urinary organic acids.
Journal: Clinical and translational medicine
Published: August 15, 2025
Developing an explainable machine learning model to predict false-negative citrin deficiency cases in newborn screening.
Journal: Orphanet journal of rare diseases
Published: June 05, 2025
99 Chinese ASS1 carriers: Genetics, metabolism, and citrulline levels.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: May 27, 2025
Clinical characteristics and long-term outcomes of 101 patients with urea cycle disorders in China.
Journal: Orphanet journal of rare diseases
Published: April 15, 2025
Metabolic profiles and prediction of failure to thrive of citrin deficiency with normal liver function based on metabolomics and machine learning.
Journal: Nutrition & metabolism
Published: December 18, 2024
Enhancing newborn screening sensitivity and specificity for missed NICCD using selected amino acids and acylcarnitines.
Journal: Orphanet journal of rare diseases
Published: August 09, 2024
Last Updated: 09/26/2026