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Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry.
Martinez-Marin RJ, Reyes-Leiva D, Nascimento A, Muelas N, Dominguez-González C, Paradas C, Olivé M, García-Romero M, Pascual-Pascual SI, Grau JM, Barba-Romero MA, Gomez-Caravaca MT, de Las Heras J, Casquero P, Mendoza MD, de León JC, Gutierrez A, Morís G, Blanco-Lago R, Ramos-Fransi A, Pintós G, García-Antelo MJ, Rabasa M, Morgado Y, Usón M, Miralles FJ, Bárcena-Llona JE, Gómez-Belda AB, Pedraza-Hueso MI, Hortelano M, Colomé A, Garcia-Martin G, Lopez de Munain A, Jericó I, Galán-Dávila L, Pardo J, Salgueiro-Origlia G, Alonso-Pérez J, Pla-Junca F, Schiava M, Segovia-Simón S, Díaz-Manera J. Martinez-Marin RJ, et al. Among authors: de leon jc. Neuromuscul Disord. 2024 Jan;34:1-8. doi: 10.1016/j.nmd.2023.10.001. Epub 2023 Nov 13. Neuromuscul Disord. 2024. PMID: 38087756
International Cross-Sectional Survey among Healthcare Professionals on the Management of Cow's Milk Protein Allergy and Lactose Intolerance in Infants and Children.
Madrazo JA, Alrefaee F, Chakrabarty A, de Leon JC, Geng L, Gong S, Heine RG, Järvi A, Ngamphaiboon J, Ong C, Rogacion JM. Madrazo JA, et al. Among authors: de leon jc. Pediatr Gastroenterol Hepatol Nutr. 2022 May;25(3):263-275. doi: 10.5223/pghn.2022.25.3.263. Epub 2022 May 9. Pediatr Gastroenterol Hepatol Nutr. 2022. PMID: 35611371 Free PMC article.
Primary spinal intramedullary Ewing-like sarcoma harboring CIC-DUX4 translocation: a similar cytological appearance as its soft tissue counterpart but no lobulation in association with desmoplastic stroma.
Yamada S, Muto J, De Leon JCA, Kumai T, Ito K, Murayama K, Hama N, Nakano Y, Satomi K, Arai Y, Shibata T, Inoue T, Nobusawa S, Ichimura K, Hirose Y, Abe M. Yamada S, et al. Among authors: de leon jca. Brain Tumor Pathol. 2020 Jul;37(3):111-117. doi: 10.1007/s10014-020-00366-y. Epub 2020 May 24. Brain Tumor Pathol. 2020. PMID: 32449046
20 results