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The prevalence and phenotypic range associated with biallelic PKDCC variants.
Clin Genet. 2023 Jul;104(1):121-126. doi: 10.1111/cge.14324. Epub 2023 Mar 10.
Clin Genet. 2023.
PMID: 36896672
Free PMC article.
[Late onset Pompe disease: an analysis of 19 patients from Mexico].
Sánchez-Sánchez LM, Martinez-Montoya V, Sandoval-Pacheco R, Torres-Octavo B, Anaya-Castro DM, Padilla-de la Torre O, Arellano-Valdez CA, Ávila-Rejón CA, Aguilar-Juárez PA, Espino-Pluma M, González-Santillanes Cruz A, Kazakova E, Martinez-Segovia RI, Olmos-Morfin D, Radillo-Díaz PF, Solís-Sánchez I, Vázquez Del Mercado-Espinosa M, Villarroel-Cortés CE, Velarde-Félix JS.
Sánchez-Sánchez LM, et al. Among authors: villarroel cortes ce.
Rev Neurol. 2022 Sep 1;75(5):103-108. doi: 10.33588/rn.7505.2022227.
Rev Neurol. 2022.
PMID: 35880963
Free PMC article.
Spanish.
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Clinical and molecular evidence of possible digenic inheritance for MFN2/GDAP1 genes in Charcot-Marie-Tooth disease.
Barreda Fierro R, Herrera Mora P, Zenteno JC, Villarroel Cortés CE.
Barreda Fierro R, et al. Among authors: villarroel cortes ce.
Neuromuscul Disord. 2020 Dec;30(12):986-990. doi: 10.1016/j.nmd.2020.10.003. Epub 2020 Oct 20.
Neuromuscul Disord. 2020.
PMID: 33187793
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