Associated Papers
Clinical and molecular characteristics of 20 Chinese probands with Mucolipidosis type II and III alpha/beta.
Feng Y et al.
Bmc Pediatrics, 2024
Case Report: Mucolipidosis II and III Alpha/Beta Caused by Pathogenic Variants in the GNPTAB Gene (Mucolipidosis).
Mao SJ et al.
Frontiers in Pediatrics, 2022
The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.
Zhao YW et al.
Frontiers in Aging Neuroscience, 2021
34867278 (PubMed )
Supplement: Data_Sheet_1.PDF
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
32573981 (PubMed )
Supplement: MGG3-8-e1340-s004.pdf
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
32005694 (PubMed )
Supplement: jmedgenet-2019-106377supp005.pdf
[Clinical and genetic analysis of mucolipidosis in 3 pedigrees and literature review].
Liu N et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2019
Identification of Five Novel Mutations Causing Rare Lysosomal Storage Diseases.
Yang C et al.
Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2019
[A novel compound heterozygous mutation of GNPTAB gene underlying a case with mucolipidosis type II α/β].
Yang K et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2019
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