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
High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma.
Kunisetty B et al.
Investigative Ophthalmology & Visual Science, 2024
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
Chau JFT et al.
Npj Genomic Medicine, 2022
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
Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals.
Nagaoka S et al.
Human Genome Variation, 2021
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
Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III.
Pasumarthi D et al.
Journal of Human Genetics, 2020
Mucolipidoses Overview: Past, Present, and Future.
Khan SA et al.
International Journal of Molecular Sciences, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 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
Peripheral nerve ultrasound findings in mucolipidosis type 3.
Mulroy E et al.
Neuroradiology, 2018
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
Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.
Liu Y et al.
Plos One, 2015
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
An adult patient with mucolipidosis III alpha/beta presenting with parkinsonism.
Hara M et al.
Brain & Development, 2013
Lysosomal storage causes cellular dysfunction in mucolipidosis II skin fibroblasts.
Otomo T et al.
The Journal of Biological Chemistry, 2011
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
Elevated Bone Turnover in an Infantile Patient with Mucolipidosis II; No Association with Hyperparathyroidism.
Otomo T et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2011
Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.
Cathey SS et al.
Journal of Medical Genetics, 2010
Inhibition of autophagosome formation restores mitochondrial function in mucolipidosis II and III skin fibroblasts.
Otomo T et al.
Molecular Genetics and Metabolism, 2009
Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients.
Tappino B et al.
Human Mutation, 2009
Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.
Otomo T et al.
Journal of Human Genetics, 2009
Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population.
Plante M et al.
Clinical Genetics, 2008
When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.
Bargal R et al.
Molecular Genetics and Metabolism, 2006
Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase alpha/beta subunits in Korean patients with mucolipidosis type II or type IIIA.
Paik KH et al.
Human Mutation, 2005
Mutation Analysis of 16 Mucolipidosis II and III Alpha/Beta Chinese Children Revealed Genotype-Phenotype Correlations.
Liu S et al.
Plos One, 0