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Page 1
Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study.
Barzaghi F, Amaya Hernandez LC, Neven B, Ricci S, Kucuk ZY, Bleesing JJ, Nademi Z, Slatter MA, Ulloa ER, Shcherbina A, Roppelt A, Worth A, Silva J, Aiuti A, Murguia-Favela L, Speckmann C, Carneiro-Sampaio M, Fernandes JF, Baris S, Ozen A, Karakoc-Aydiner E, Kiykim A, Schulz A, Steinmann S, Notarangelo LD, Gambineri E, Lionetti P, Shearer WT, Forbes LR, Martinez C, Moshous D, Blanche S, Fisher A, Ruemmele FM, Tissandier C, Ouachee-Chardin M, Rieux-Laucat F, Cavazzana M, Qasim W, Lucarelli B, Albert MH, Kobayashi I, Alonso L, Diaz De Heredia C, Kanegane H, Lawitschka A, Seo JJ, Gonzalez-Vicent M, Diaz MA, Goyal RK, Sauer MG, Yesilipek A, Kim M, Yilmaz-Demirdag Y, Bhatia M, Khlevner J, Richmond Padilla EJ, Martino S, Montin D, Neth O, Molinos-Quintana A, Valverde-Fernandez J, Broides A, Pinsk V, Ballauf A, Haerynck F, Bordon V, Dhooge C, Garcia-Lloret ML, Bredius RG, Kałwak K, Haddad E, Seidel MG, Duckers G, Pai SY, Dvorak CC, Ehl S, Locatelli F, Goldman F, Gennery AR, Cowan MJ, Roncarolo MG, Bacchetta R; Primary Immune Deficiency Treatment Consortium (PIDTC) and the Inborn Errors Working Party (IEWP) of the European Society for Blood and Marrow Transplantation (EBMT). Barzaghi F, et al. Among authors: valverde fernandez j. J Allergy Clin Immunol. 2018 Mar;141(3):1036-1049.e5. doi: 10.1016/j.jaci.2017.10.041. Epub 2017 Dec 11. J Allergy Clin Immunol. 2018. PMID: 29241729 Free PMC article. Clinical Trial.
Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report.
Molera C, Sarishvili T, Nascimento A, Rtskhiladze I, Muñoz Bartolo G, Fernández Cebrián S, Valverde Fernández J, Muñoz Cabello B, Graham RJ, Miller W, Sepulveda B, Kamath BM, Meng H, Lawlor MW. Molera C, et al. Among authors: valverde fernandez j. J Neuromuscul Dis. 2022;9(1):73-82. doi: 10.3233/JND-210712. J Neuromuscul Dis. 2022. PMID: 34366366 Free PMC article.
Choice of pharmaceutical form as a key factor during ketogenic diet: a case report.
Rodríguez-Ramallo H, Báez-Gutiérrez N, Valverde Fernandez J, Araujo-Rodríguez FJ. Rodríguez-Ramallo H, et al. Among authors: valverde fernandez j. Eur J Hosp Pharm. 2023 May;30(3):180-182. doi: 10.1136/ejhpharm-2021-002727. Epub 2021 Jun 8. Eur J Hosp Pharm. 2023. PMID: 34103395 Free PMC article.
Supragastric belches. An entity to know.
Salazar Quero JC, Moya Jiménez MJ, Rubio Murillo M, Roldán Pérez S, Rodríguez Martínez A, Valverde Fernández J. Salazar Quero JC, et al. Among authors: valverde fernandez j. Gastroenterol Hepatol. 2017 Jun-Jul;40(6):396-397. doi: 10.1016/j.gastrohep.2016.05.004. Epub 2016 Jun 23. Gastroenterol Hepatol. 2017. PMID: 27345533 English, Spanish. No abstract available.
Response to Letter to the Editor: Effect of Nusinersen on Respiratory and Bulbar Function in Children with Spinal Muscular Atrophy.
Gaboli M, López-Lobato M, Valverde-Fernández J, Ferrand-Ferri P, Rubio-Pérez E, Andrade-Ruiz HA, López-Puerta González JM, Madruga-Garrido M. Gaboli M, et al. Among authors: valverde fernandez j. Neuropediatrics. 2024 Nov 8. doi: 10.1055/a-2437-6075. Online ahead of print. Neuropediatrics. 2024. PMID: 39515371 No abstract available.
Effect of Nusinersen on Respiratory and Bulbar Function in Children with Spinal Muscular Atrophy: Real-World Experience from a Single Center.
Gaboli M, López Lobato M, Valverde Fernández J, Ferrand Ferri P, Rubio Pérez E, Andrade Ruiz HA, López-Puerta González JM, Madruga-Garrido M. Gaboli M, et al. Among authors: valverde fernandez j. Neuropediatrics. 2024 Aug 30. doi: 10.1055/a-2379-7069. Online ahead of print. Neuropediatrics. 2024. PMID: 39102865
The Role of Interferon-γ in Autoimmune Polyendocrine Syndrome Type 1.
Oikonomou V, Smith G, Constantine GM, Schmitt MM, Ferré EMN, Alejo JC, Riley D, Kumar D, Dos Santos Dias L, Pechacek J, Hadjiyannis Y, Webb T, Seifert BA, Ghosh R, Walkiewicz M, Martin D, Besnard M, Snarr BD, Deljookorani S, Lee CR, DiMaggio T, Barber P, Rosen LB, Cheng A, Rastegar A, de Jesus AA, Stoddard J, Kuehn HS, Break TJ, Kong HH, Castelo-Soccio L, Colton B, Warner BM, Kleiner DE, Quezado MM, Davis JL, Fennelly KP, Olivier KN, Rosenzweig SD, Suffredini AF, Anderson MS, Swidergall M, Guillonneau C, Notarangelo LD, Goldbach-Mansky R, Neth O, Monserrat-Garcia MT, Valverde-Fernandez J, Lucena JM, Gomez-Gila AL, Garcia Rojas A, Seppänen MRJ, Lohi J, Hero M, Laakso S, Klemetti P, Lundberg V, Ekwall O, Olbrich P, Winer KK, Afzali B, Moutsopoulos NM, Holland SM, Heller T, Pittaluga S, Lionakis MS. Oikonomou V, et al. Among authors: valverde fernandez j. N Engl J Med. 2024 May 30;390(20):1873-1884. doi: 10.1056/NEJMoa2312665. N Engl J Med. 2024. PMID: 38810185 Free PMC article.
Data Mining Techniques Applied to Hydrogen Lactose Breath Test.
Rubio-Escudero C, Valverde-Fernández J, Nepomuceno-Chamorro I, Pontes-Balanza B, Hernández-Mendoza Y, Rodríguez-Herrera A. Rubio-Escudero C, et al. Among authors: valverde fernandez j. PLoS One. 2017 Jan 26;12(1):e0170385. doi: 10.1371/journal.pone.0170385. eCollection 2017. PLoS One. 2017. PMID: 28125620 Free PMC article.