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Page 1
Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.
Lessel D, Ozel AB, Campbell SE, Saadi A, Arlt MF, McSweeney KM, Plaiasu V, Szakszon K, Szőllős A, Rusu C, Rojas AJ, Lopez-Valdez J, Thiele H, Nürnberg P, Nickerson DA, Bamshad MJ, Li JZ, Kubisch C, Glover TW, Gordon LB. Lessel D, et al. Hum Genet. 2018 Dec;137(11-12):921-939. doi: 10.1007/s00439-018-1957-1. Epub 2018 Nov 19. Hum Genet. 2018. PMID: 30450527 Free PMC article.
Corrigendum to "The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII" [Mol Genet Metab 2020 Mar;129(3):219-227].
Wang RY, da Silva Franco JF, López-Valdez J, Martins E, Sutton VR, Whitley CB, Zhang L, Cimms T, Marsden D, Jurecka A, Harmatz P. Wang RY, et al. Among authors: lopez valdez j. Mol Genet Metab. 2020 Sep-Oct;131(1-2):285. doi: 10.1016/j.ymgme.2020.08.001. Epub 2020 Aug 23. Mol Genet Metab. 2020. PMID: 32843286 No abstract available.
The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII.
Wang RY, da Silva Franco JF, López-Valdez J, Martins E, Sutton VR, Whitley CB, Zhang L, Cimms T, Marsden D, Jurecka A, Harmatz P. Wang RY, et al. Among authors: lopez valdez j. Mol Genet Metab. 2020 Mar;129(3):219-227. doi: 10.1016/j.ymgme.2020.01.003. Epub 2020 Jan 11. Mol Genet Metab. 2020. PMID: 32063397 Free article. Clinical Trial.
Hawkinsinuria clinical practice guidelines: a Mexican case report and literature review.
Cruz-Camino H, Vazquez-Cantu DL, Zea-Rey AV, López-Valdez J, Jiménez-Lozano J, Gómez-Gutiérrez R, Cantú-Reyna C. Cruz-Camino H, et al. Among authors: lopez valdez j. J Int Med Res. 2020 Feb;48(2):300060519863543. doi: 10.1177/0300060519863543. Epub 2019 Jul 25. J Int Med Res. 2020. PMID: 31342835 Free PMC article. Review.
Infantile-onset Pompe disease in seven Mexican children.
Sánchez-Sánchez LM, Ávila-Rejón C, Díaz-Martínez R, Díaz-Murillo B, Kazakova E, López-Valdez J, Martínez-Montoya V, Olaiz-Urbina J, Radillo-Díaz P, Ricárdez-Marcial E, Sandoval-Pacheco R, Torres-Octavo B, Vergara-Sánchez I. Sánchez-Sánchez LM, et al. Among authors: lopez valdez j. Gac Med Mex. 2022;158(5):265-270. doi: 10.24875/GMM.M22000694. Gac Med Mex. 2022. PMID: 36572041 Free article. English.
Cystic fibrosis: current concepts.
López-Valdez JA, Aguilar-Alonso LA, Gándara-Quezada V, Ruiz-Rico GE, Ávila-Soledad JM, Reyes AA, Pedroza-Jiménez FD. López-Valdez JA, et al. Bol Med Hosp Infant Mex. 2021;78(6):584-596. doi: 10.24875/BMHIM.20000372. Bol Med Hosp Infant Mex. 2021. PMID: 34934215 Free article. English.
Myosin 1g as a high-risk biomarker in a pediatric patient with lineage switch from acute lymphoblastic leukemia to myeloid phenotype.
Araujo-Cárdenas JE, Rodríguez-Ruiz MA, López-Valdez JA, Rodríguez-Téllez RI, Garfias-Gómez Y, Parra-Ortega I, Patiño-López G. Araujo-Cárdenas JE, et al. Among authors: lopez valdez ja. Bol Med Hosp Infant Mex. 2023;80(2):135-143. doi: 10.24875/BMHIM.22000041. Bol Med Hosp Infant Mex. 2023. PMID: 37155721 Free article. English.
Primary Immunodeficiency Diseases in Aguascalientes, Mexico: Results from an Educational Program.
Alvarez-Cardona A, Espinosa-Padilla SE, Reyes SO, Ventura-Juarez J, Lopez-Valdez JA, Martínez-Medina L, Santillan-Artolozaga A, Cajero-Avelar A, De Luna-Sosa AR, Torres-Bernal LF, Espinosa-Rosales FJ. Alvarez-Cardona A, et al. J Clin Immunol. 2016 Apr;36(3):173-8. doi: 10.1007/s10875-016-0242-0. Epub 2016 Feb 22. J Clin Immunol. 2016. PMID: 26898367
15 results