Mutational spectrum and genotype-phenotype correlation in Mexican patients with infantile-onset and late-onset Pompe disease.

Martinez-Montoya V, Sánchez-Sánchez LM, Sandoval-Pacheco R, Castro DMA, Arellano-Valdez CA, Ávila-Rejón CA, Aguilar-Juárez PA, Espino-Pluma M, González-Santillanes CA, Martínez-Segovia RI, Olmos-Morfin D, la Torre OP, Solís-Sánchez I, Espinosa MVM, Villarroel-Cortés CE, Velarde-Félix JS, López-Valdez J, Olaiz-Urbina J, Ricárdez-Marcial E, Vergara-Sánchez I, Radillo-Díaz P, Kazakova E, De la Fuente-Cortez B, Del Carmen Marquez-Quiróz L, Torres-Octavo B, Diaz-Martinez R

Open source

DOI: 10.1002/mgg3.2480
Published: 2024 Jul
Container: Molecular genetics & genomic medicine
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1002/mgg3.2480,
  title = {Mutational spectrum and genotype-phenotype correlation in Mexican patients with infantile-onset and late-onset Pompe disease.},
  author = {Martinez-Montoya V and Sánchez-Sánchez LM and Sandoval-Pacheco R and Castro DMA and Arellano-Valdez CA and Ávila-Rejón CA and Aguilar-Juárez PA and Espino-Pluma M and González-Santillanes CA and Martínez-Segovia RI and Olmos-Morfin D and la Torre OP and Solís-Sánchez I and Espinosa MVM and Villarroel-Cortés CE and Velarde-Félix JS and López-Valdez J and Olaiz-Urbina J and Ricárdez-Marcial E and Vergara-Sánchez I and Radillo-Díaz P and Kazakova E and De la Fuente-Cortez B and Del Carmen Marquez-Quiróz L and Torres-Octavo B and Diaz-Martinez R},
  year = {2024},
  journal = {Molecular genetics \& genomic medicine},
  doi = {10.1002/mgg3.2480},
  url = {https://doi.org/10.1002/mgg3.2480}
}

RIS

TY  - JOUR
TI  - Mutational spectrum and genotype-phenotype correlation in Mexican patients with infantile-onset and late-onset Pompe disease.
AU  - Martinez-Montoya V
AU  - Sánchez-Sánchez LM
AU  - Sandoval-Pacheco R
AU  - Castro DMA
AU  - Arellano-Valdez CA
AU  - Ávila-Rejón CA
AU  - Aguilar-Juárez PA
AU  - Espino-Pluma M
AU  - González-Santillanes CA
AU  - Martínez-Segovia RI
AU  - Olmos-Morfin D
AU  - la Torre OP
AU  - Solís-Sánchez I
AU  - Espinosa MVM
AU  - Villarroel-Cortés CE
AU  - Velarde-Félix JS
AU  - López-Valdez J
AU  - Olaiz-Urbina J
AU  - Ricárdez-Marcial E
AU  - Vergara-Sánchez I
AU  - Radillo-Díaz P
AU  - Kazakova E
AU  - De la Fuente-Cortez B
AU  - Del Carmen Marquez-Quiróz L
AU  - Torres-Octavo B
AU  - Diaz-Martinez R
PY  - 2024
JO  - Molecular genetics & genomic medicine
DO  - 10.1002/mgg3.2480
UR  - https://doi.org/10.1002/mgg3.2480
ER  -

APA

V, M., LM, S., R, S., DMA, C., CA, A., CA, Á., PA, A., M, E., CA, G., RI, M., D, O., OP, L. T., I, S., MVM, E., CE, V., JS, V., J, L., J, O., E, R., I, V., P, R., E, K., B, D. L. F., L, D. C. M., B, T., & R, D. (2024). Mutational spectrum and genotype-phenotype correlation in Mexican patients with infantile-onset and late-onset Pompe disease.. Molecular genetics & genomic medicine. https://doi.org/10.1002/mgg3.2480

Source records

pubmed · retrieved 2026-09-27T12:13:51.246Z