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Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients

Autor desconocido (Elsevier, 2014)

In this study, 103 unrelated South-American patients with mucopolysaccharidosis type II (MPS II) were investigated aiming at the identification of iduronate-2-sulfatase (IDS) disease causing mutations and the possibility ...

Estudio clínico y molecular en familias mexicanas con mucopolisacaridosis tipo II (Síndrome de Hunter). /Clinical and molecular study in Mexican families with mucopolysaccharidosis type II (Hunter Syndrome)

LILIANA FERNANDEZ HERNANDEZ (El Autor, 2011)

Mucopolysaccharidosis type II: Identification of 30 novel mutations among Latin American patients

Autor desconocido (Elsevier, 2014)

Mucopolysaccharidosis type II: skeletal-muscle system involvement

Morini, SR; Steiner, CE; Gerson, LBP (Lippincott Williams & WilkinsPhiladelphiaEUA, 2010)

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

Amartino, H.; Ceci, Romina; Masllorens, F.; Gal, A.; Arberas, C.; Bay, L.; Ilari, R.; Dipierri, J.; Specola, N.; Cabrera, A.; Rozenfeld, P. (2014)

Laronidase for treating mucopolysaccharidosis type I

El Dib, Regina Paolucci [UNIFESP]; Pastores, G. M. (Funpec-editora, 2007-01-01)

Mucopolysaccharidoses are a group of inherited metabolic diseases caused by the absence or deficiency of the lysosomal enzymes that are needed for breaking down glycosaminoglycans (GAGs). Over time, GAGs collect in cells, ...

Clinical and biochemical studies in mucopolysaccharidosis type II carriers

Schwartz, I. V. D.; Pinto, L. L. C.; Breda, G.; Lima, L.; Ribeiro, M. G.; Mota, J. G.; Acosta, Angelina Xavier; Correia, P.; Horovitz, Dafne Dain Gandelman; Porciuncula, C. G. G.; Figueiredo, E. Lipinski; Conte, A. C. Fett; Oliveira Sobrinho, R. P.; Norato, D. Y. J.; Paula, A. C.; Kim, C. A.; Duarte, A. R.; Boy, R.; Leistner-Segal, S.; Burin, M. G.; Giugliani, R. (Kluwer, 2014)

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

Amartino, H; Ceci, Romina; Masllorens, F; Gal, A.; Arberas, Claudia Liliana; Bay, L; Ilari,R; Dipierri, Jose Edgardo; Specola, N; Cabrera, A; Rozenfeld, Paula Adriana (Elsevier, 2014-08)

Mucopolysaccharidosis type II (MPSII) is an X-linked lysosomal storage disorder caused by deficiency of the enzyme iduronate-2-sulfatase (IDS). The human IDS gene is located in chromosome Xq28. This is the first report of ...

Mucopolysaccharidosis Type Ii: Identification Of 30 Novel Mutations Among Latin American Patients.

Brusius-Facchin, A C; Schwartz, I V D; Zimmer, C; Ribeiro, M G; Acosta, A X; Horovitz, D; Monlleó, I L; Fontes, M I B; Fett-Conte, A; Sobrinho, R P Oliveira; Duarte, A R; Boy, R; Mabe, P; Ascurra, M; de Michelena, M; Tylee, K L; Besley, G T N; Garreton, M C V; Giugliani, R; Leistner-Segal, S (2014)

Mucolipidosis tipo II: comunicación de un caso

Aracena A,Mariana; Mabe S,Paulina; Mena R,María; Andreani V,Silvia; Daza B,Claudio (Sociedad Médica de Santiago, 2003)

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Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients

Estudio clínico y molecular en familias mexicanas con mucopolisacaridosis tipo II (Síndrome de Hunter). /Clinical and molecular study in Mexican families with mucopolysaccharidosis type II (Hunter Syndrome)

Mucopolysaccharidosis type II: Identification of 30 novel mutations among Latin American patients

Mucopolysaccharidosis type II: skeletal-muscle system involvement

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

Laronidase for treating mucopolysaccharidosis type I

Clinical and biochemical studies in mucopolysaccharidosis type II carriers

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

Mucopolysaccharidosis Type Ii: Identification Of 30 Novel Mutations Among Latin American Patients.

Mucolipidosis tipo II: comunicación de un caso