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Items: 8


Fabry pedigree analysis: A successful program for targeted genetic approach.

Rozenfeld PA, Masllorens FM, Roa N, Rodriguez F, Bonnano M, Yvorra C, Ceci R.

Mol Genet Genomic Med. 2019 Jul;7(7):e00794. doi: 10.1002/mgg3.794. Epub 2019 Jun 6.


Switch from agalsidase beta to agalsidase alfa in the enzyme replacement therapy of patients with Fabry disease in Latin America.

Ripeau D, Amartino H, Cedrolla M, Urtiaga L, Urdaneta B, Cano M, Valdez R, Antongiovanni N, Masllorens F.

Medicina (B Aires). 2017;77(3):173-179.


Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome).

Amartino H, Ceci R, Masllorens F, Gal A, Arberas C, Bay L, Ilari R, Dipierri J, Specola N, Cabrera A, Rozenfeld P.

Mol Genet Metab Rep. 2014 Sep 17;1:401-406. eCollection 2014.


[Guidelines for diagnosis, monitoring and treatment of Fabry disease].

Consenso de Médicos de AADELFA y GADYTEF, Neumann P, Antongiovanni N, Fainboim A, Kisinovsky I, Amartino H, Cabrera G, Carmona S, Ceci R, Cicerán A, Choua M, Doxastakis G, De Maio S, Ebner R, Escobar AM, Ferrari G, Forrester M, Guelbert N, Luna P, Marchesoni C, Masllorens F, Politei J, Reisin R, Ripeau D, Rozenfeld P, Serebrinsky G, Tarabuso AL, Trípoli J.

Medicina (B Aires). 2013;73(5):482-94. Spanish.


Fabry disease in Argentina: an evaluation of patients enrolled in the Fabry Registry.

Politei JM, Cabrera G, Amartino H, Valdez R, Masllorens F, Ripeau D, Antongiovanni N, Soliani A, Luna P, Cedrolla M, Fernandez S, Fainboim A.

Int J Clin Pract. 2013 Jan;67(1):66-72. doi: 10.1111/ijcp.12081.


[Guideline for diagnosis, follow-up and treatment of mucopolysaccharidoses type II or Hunter disease].

Grupo de Trabajo de Enfermedades poco frecuentes.

Arch Argent Pediatr. 2011 Apr;109(2):175-81. Spanish. No abstract available.


Letter: Hepatitis-B-virus infection and active chronic hepatitis.

De La Concha EG, Maslloréns FO, Hernandex-Guío C.

Lancet. 1975 Jun 28;1(7922):1429. No abstract available.


Letter: Frequency of hepatitis-B antigen or antibody in household contacts of HBAg carriers.

De la Concha EG, Masllorens FO, Hernandez-Guio C.

Lancet. 1974 Nov 23;2(7891):1267-8. No abstract available.


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