Associated Papers
Mucolipidosis type II and type III: a systematic review of 843 published cases.
Dogterom EJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
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
Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis.
Yang M et al.
Orphanet Journal of Rare Diseases, 2017
Two homozygous nonsense mutations of GNPTAB gene in two Chinese families with mucolipidosis II alpha/beta using targeted next-generation sequencing.
Yang Y et al.
Genomics, 2013
A compound heterozygous GNPTAB mutation causes mucolipidosis II with marked hair color change in a Han Chinese baby.
Ma GC et al.
American Journal of Medical Genetics. Part A, 2011
Mutation Analysis of 16 Mucolipidosis II and III Alpha/Beta Chinese Children Revealed Genotype-Phenotype Correlations.
Liu S et al.
Plos One, 0
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