1. Wang, Yu, Ye, Jun, Qiu, Wen-Juan, Gu, Xue-Fan, Zhang, Hui-Wen. 2018. Identification of predominant GNPTAB gene mutations in Eastern Chinese patients with mucolipidosis II/III and a prenatal diagnosis of mucolipidosis II. In Acta pharmacologica Sinica, 40, 279-287. doi:10.1038/s41401-018-0023-9. https://pubmed.ncbi.nlm.nih.gov/29872134/
2. Cury, G K, Matte, U, Artigalás, O, Acosta, A X, Schwartz, I V D. 2013. Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene. In Gene, 524, 59-64. doi:10.1016/j.gene.2013.03.105. https://pubmed.ncbi.nlm.nih.gov/23566849/
3. Essawi, Mona L, Fateen, Ekram M, Atia, Hanan A, Hassan, Heba A, Temtamy, Samia A. 2021. Quaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB gene. In Journal, genetic engineering & biotechnology, 19, 111. doi:10.1186/s43141-021-00204-4. https://pubmed.ncbi.nlm.nih.gov/34342781/
4. Gowda, Vykuntaraju K, Raghavan, Varun V, Bhat, Meenakshi, Benakappa, Asha. . Mucolipidosis Type II Secondary to GNPTAB Gene Deletion from India. In Journal of pediatric neurosciences, 12, 115-116. doi:10.4103/1817-1745.205656. https://pubmed.ncbi.nlm.nih.gov/28553404/
5. Barnes, Terra D, Holy, Timothy E. 2017. Knockout of Lysosomal Enzyme-Targeting Gene Causes Abnormalities in Mouse Pup Isolation Calls. In Frontiers in behavioral neuroscience, 10, 237. doi:10.3389/fnbeh.2016.00237. https://pubmed.ncbi.nlm.nih.gov/28101008/
6. Han, Tae-Un, Root, Jessica, Reyes, Laura D, Barnes, Terra D, Drayna, Dennis. 2019. Human GNPTAB stuttering mutations engineered into mice cause vocalization deficits and astrocyte pathology in the corpus callosum. In Proceedings of the National Academy of Sciences of the United States of America, 116, 17515-17524. doi:10.1073/pnas.1901480116. https://pubmed.ncbi.nlm.nih.gov/31405983/
7. Sperb-Ludwig, F, Alegra, T, Velho, R V, Burin, M G, Schwartz, I V D. 2014. Exome sequencing for mucolipidosis III: Detection of a novel GNPTAB gene mutation in a patient with a very mild phenotype. In Molecular genetics and metabolism reports, 2, 34-37. doi:10.1016/j.ymgmr.2014.12.001. https://pubmed.ncbi.nlm.nih.gov/28649523/
8. Tiede, Stephan, Hundt, Jennifer E, Paus, Ralf. 2021. UDP-GlcNAc-1-Phosphotransferase Is a Clinically Important Regulator of Human and Mouse Hair Pigmentation. In The Journal of investigative dermatology, 141, 2957-2965.e5. doi:10.1016/j.jid.2021.04.028. https://pubmed.ncbi.nlm.nih.gov/34116066/
9. Coutinho, Maria Francisca, da Silva Santos, Liliana, Lacerda, Lúcia, Prata, Maria João, Alves, Sandra. 2011. Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta Patient. In JIMD reports, 4, 117-24. doi:10.1007/8904_2011_83. https://pubmed.ncbi.nlm.nih.gov/23430906/
10. Zhan, Tailan, Cui, Xiukun, Xing, Xuenong, Tang, Zhaohui, Liu, Mugen. 2011. Mucolipidosis in a Chinese family with compound heterozygous mutations at the GNPTAB gene. In Clinica chimica acta; international journal of clinical chemistry, 412, 1469-71. doi:10.1016/j.cca.2011.04.025. https://pubmed.ncbi.nlm.nih.gov/21549105/
智鼠故事 
