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
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
The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations.
Velho RV et al.
Human Mutation, 2019
Identification of predominant GNPTAB gene mutations in Eastern Chinese patients with mucolipidosis II/III and a prenatal diagnosis of mucolipidosis II.
Wang Y et al.
Acta Pharmacologica Sinica, 2019
Compound heterozygous GNPTAB mutations cause mucolipidosis II or III alpha/beta in two Chinese families.
Yu F et al.
International Journal of Clinical and Experimental Pathology, 2019
GNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report.
Ho CC et al.
Bmc Medical Genetics, 2018
Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.
Sun Y et al.
Scientific Reports, 2018
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