Ziyan Cen

Hangzhou, China

Last Updated: 09/26/2026

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Found 9 publications

Clinical analysis of a patient of Short rib-polydactyly syndrome type 6 with long term misdiagnosis

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

Metabolic signatures and a diagnostic model for citrin deficiency based on urinary organic acids.

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.

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.

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.

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.

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.

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

Parental awareness and perspectives on newborn screening in China: a questionnaire-based study.

Parental awareness and perspectives on newborn screening in China: a questionnaire-based study.

Journal: BMC medical ethics

Published: January 01, 2024

Public attitudes toward the research use and storage of residual dried blood spots from newborn screening in China.

Public attitudes toward the research use and storage of residual dried blood spots from newborn screening in China.

Journal: BMC medical ethics

Published: November 12, 2023

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Last Updated: 09/26/2026