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Page 1
Classic and Atypical Late Infantile Neuronal Ceroid Lipofuscinosis in Latin America: Clinical and Genetic Aspects, and Treatment Outcome with Cerliponase Alfa.
Guelbert N, Espitia Segura OM, Amoretti C, Arteaga Arteaga A, Atanacio NG, Bazan Natacha S, Carvalho EDF, Carvalho de Andrade MDF, Denzler IM, Durand C, Ribeiro E, Giugni JC, González G, González Moron D, Guelbert G, Hernández Rodriguez ZJ, Embiruçu Emilia K, Kauffman MA, Mancilla NI, Marcon L, Marques Pereira A, Fischinger Moura de Souza C, Muñoz VA, Naranjo Flórez RA, Pessoa AL, Ruiz MV, Solano Villareal ML, Spécola N, Tavera LM, Tello J, Troncoso Schifferli M, Ugrina S, Vaccarezza MM, Vergara D, Villanueva MM. Guelbert N, et al. Among authors: durand c. Mol Genet Metab Rep. 2024 Feb 1;38:101060. doi: 10.1016/j.ymgmr.2024.101060. eCollection 2024 Mar. Mol Genet Metab Rep. 2024. PMID: 38469103 Free PMC article.
Infantile-onset Pompe disease: Diagnosis and management.
Bay LB, Denzler I, Durand C, Eiroa H, Frabasil J, Fainboim A, Maxit C, Schenone A, Spécola N. Bay LB, et al. Among authors: durand c. Arch Argent Pediatr. 2019 Aug 1;117(4):271-278. doi: 10.5546/aap.2019.eng.271. Arch Argent Pediatr. 2019. PMID: 31339275 Free article. English, Spanish.
Initial management of acute hyperammonemia in pediatrics.
Eiroa H, Durand C, Szlago M, Pereyra M, Nuñez M, Guelbert N, Pacheco G, Kleppe S. Eiroa H, et al. Among authors: durand c. Arch Argent Pediatr. 2023 Jun 1;121(3):e202202614. doi: 10.5546/aap.2022-02614.eng. Epub 2022 Oct 27. Arch Argent Pediatr. 2023. PMID: 36287611 Free article. English, Spanish.
Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings.
Paiva ARB, Pessoa ALS, Nóbrega PR, Moreno CAM, Lynch DS, Taniguti LM, Kitajima JP, Freua F, Della-Ripa B, Cunha P, Peixoto de Barcelos I, Macedo-Souza LI, Takeuchi CA, Garcia AMS, Nardes F, Fontão R, Antoniuk SA, Troncoso M, Spécola N, Durand C, Madeiro BACS, Doriqui MJR, Vergara D, Houlden H, Kok F. Paiva ARB, et al. Among authors: durand c. J Neurol Neurosurg Psychiatry. 2023 May;94(5):405-408. doi: 10.1136/jnnp-2022-330135. Epub 2023 Feb 3. J Neurol Neurosurg Psychiatry. 2023. PMID: 36737246 No abstract available.
Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring program.
Giugliani R, Gonzalez-Meneses A, Scarpa M, Burton B, Wang R, Martins E, Oussoren E, Hennermann JB, Chabrol B, Grant CL, Sun A, Durand C, Hetzer J, Malkus B, Marsden D, Merritt Ii JL. Giugliani R, et al. Among authors: durand c. Orphanet J Rare Dis. 2024 May 7;19(1):189. doi: 10.1186/s13023-024-03176-z. Orphanet J Rare Dis. 2024. PMID: 38715031 Free PMC article.
Clinical parameters, LysoGb3, podocyturia, and kidney biopsy in children with Fabry disease: is a correlation possible?
Politei J, Alberton V, Amoreo O, Antongiovanni N, Arán MN, Barán M, Cabrera G, Di Pietrantonio S, Durand C, Fainboim A, Frabasil J, Pizarro FG, Iotti R, Liern M, Perretta F, Ripeau D, Toniolo F, Trimarchi H, Rivas DV, Wallace E, Schenone AB. Politei J, et al. Among authors: durand c. Pediatr Nephrol. 2018 Nov;33(11):2095-2101. doi: 10.1007/s00467-018-4006-3. Epub 2018 Jul 9. Pediatr Nephrol. 2018. PMID: 29987457
748 results