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Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Brain. 2023 Dec 1;146(12):4880-4890. doi: 10.1093/brain/awad328.
Brain. 2023.
PMID: 37769650
Free PMC article.
GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms.
Ludwig NF, Velho RV, Sperb-Ludwig F, Acosta AX, Ribeiro EM, Kim CA, Gandelman Horovitz DD, Boy R, Rodovalho-Doriqui MJ, Lourenço CM, Santos ES, Braulke T, Pohl S, Schwartz IVD.
Ludwig NF, et al. Among authors: rodovalho doriqui mj.
Int J Biochem Cell Biol. 2017 Nov;92:90-94. doi: 10.1016/j.biocel.2017.09.006. Epub 2017 Sep 14.
Int J Biochem Cell Biol. 2017.
PMID: 28918368
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3p partial trisomy and 13q partial monosomy with congenital malformations and psychomotor developmental delay.
Rodovalho-Doriqui MJ, Freitas PL, Pinho JD, Cavalli LR, Pereira SR.
Rodovalho-Doriqui MJ, et al.
Genet Mol Res. 2013 Jul 24;12(3):2562-6. doi: 10.4238/2013.July.24.7.
Genet Mol Res. 2013.
PMID: 23979887
Free article.
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