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Novel probable pathological variant c.1249A>C in exon 7 of the GAA gene associated with Pompe disease in adults.
Roche Bueno JC, Arcos Sánchez C, Salgado Álvarez de Sotomayor F, Izquierdo-Álvarez S, Miramar Gallart MD, Solera García J. Roche Bueno JC, et al. Among authors: solera garcia j. Neurologia (Engl Ed). 2018 Jun;33(5):346-348. doi: 10.1016/j.nrl.2017.02.015. Epub 2017 Apr 18. Neurologia (Engl Ed). 2018. PMID: 28431840 Free article. English, Spanish. No abstract available.
[New mutations associated with Hirschsprung disease].
Lorente-Ros M, Andrés AM, Sánchez-Galán A, Amiñoso C, García S, Lapunzina P, Solera García J. Lorente-Ros M, et al. Among authors: solera garcia j. An Pediatr (Engl Ed). 2020 Oct;93(4):222-227. doi: 10.1016/j.anpedi.2019.05.019. Epub 2020 Jan 23. An Pediatr (Engl Ed). 2020. PMID: 31983649 Free article. Spanish.
New mutations associated with Hirschsprung disease.
Lorente-Ros M, Andrés AM, Sánchez-Galán A, Amiñoso C, García S, Lapunzina P, Solera-García J. Lorente-Ros M, et al. Among authors: solera garcia j. An Pediatr (Engl Ed). 2020 Oct;93(4):222-227. doi: 10.1016/j.anpede.2019.05.007. Epub 2020 Jan 31. An Pediatr (Engl Ed). 2020. PMID: 34092334 Free article.
The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies.
Ferreira S, Ortiz A, Germain DP, Viana-Baptista M, Caldeira-Gomes A, Camprecios M, Fenollar-Cortés M, Gallegos-Villalobos Á, Garcia D, García-Robles JA, Egido J, Gutiérrez-Rivas E, Herrero JA, Mas S, Oancea R, Péres P, Salazar-Martín LM, Solera-Garcia J, Alves H, Garman SC, Oliveira JP. Ferreira S, et al. Among authors: solera garcia j. Mol Genet Metab. 2015 Feb;114(2):248-58. doi: 10.1016/j.ymgme.2014.11.004. Epub 2014 Nov 9. Mol Genet Metab. 2015. PMID: 25468652 Free PMC article.