Associated Papers
Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency.
Lu D et al.
Orphanet Journal of Rare Diseases, 2020
A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening.
Park KJ et al.
Annals of Laboratory Medicine, 2016
27578510 (PubMed )
Supplement: alm-36-561-s011.pdf
[Clinical characteristics and analysis of mass spectrometric data in patients with ornithine transcarbamylase deficiency].
Han F et al.
Zhonghua Yi Xue Za Zhi, 2014
Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity.
DaRe JT et al.
Bmc Medical Genetics, 2013
[Comparison and clinical application of two methods for determination of plasma chitotriosidase activity].
Wang Y et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2012
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