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[Variability in the clinical presentation of Pompe disease: development following enzyme replacement therapy].
Rev Neurol. 2015 Nov 1;61(9):416-20.
Rev Neurol. 2015.
PMID: 26503317
Free article.
Spanish.
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.
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[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.
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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.
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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.
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