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Mucopolysaccharidosis type II: skeletal-muscle system involvement

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

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.; Monlleo I.L.; Fontes M.I.B.; Fett-Conte A.; Sobrinho R.P.O.; 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)

Mucopolysaccharidosis type I, II and VI and response to enzyme replacement therapy: Results from a single-center case series study

Catholic University - PUC; Universidade de São Paulo (USP); Universidade Estadual Paulista (Unesp); McMaster University; University of Toronto (2017-01-01)

Mucopolysaccharidoses (MPS) types I, II and VI are associated with deficiencies in alpha- L-iduronidase, iduronate-2-sulfatase and N-acetylgalactosamine-4-sulfatase, respectively, and generally involve progressive and ...

Caracterização do sistema musculo-esqueletico em individuos com mucopolissacaridose Tipo II : alguns aspectos cineticos e consequencias funcionaisCharacterization of musculoskeletal system in individuals with mucopolysaccharidosis type II : some kinectics features and functional consequences

Morini, Sandra Regina ([s.n.], 2007)

Mucopolysaccharidosis type I, II and VI and response to enzyme replacement therapy

FRANCO, JOSE F. da S.; EL DIB, REGINA; AGARWAL, ARNAV; SOARES, DIOGO; MILHAN, NOALA V.M.; ALBANO, LILIAN M.J.; KIM, CHONG A. (2017)

Severe phenotype in MPS II patients associated with a large deletion including contiguous genes

Brusius-Facchin, Ana Carolina; Souza, Carolina Fischinger Moura De; Schwartz, Ida Vanessa D.; Riegel, Mariluce; Melaragno, Maria Isabel; Correia, Patrícia; Moraes, Lúcia Marques; Llerena Junior, Juan Clinton; Giugliani, Roberto; Leistner-Segal (Wiley Liss, 2014)

Placenta analysis of prenatally diagnosed patients reveals early GAG storage in mucopolysaccharidoses II and VI

Baldo, Guilherme; Matte, Ursula; Artigalas, Osvaldo; Schwartz, Ida Vanessa; Burin, Maira Graeff; Ribeiro, Erlane; Horovitz, Dafne Dain Gandelman; Magalhaes, Tatiana Pacheco; Elleder, Milan; Giugliani, Roberto (Academic Press, 2014)

A Clinical Study Of 77 Patients With Mucopolysaccharidosis Type Ii

Schwartz I.V.D.; Ribeiro M.G.; Mota J.G.; Toralles M.B.P.; Correia P.; Horovitz D.; Santos E.S.; Monlleo I.L.; Fett-Conte A.C.; Sobrinho R.P.O.; Norato D.Y.; Paula A.C.; Kim C.A.; Duarte A.R.; Boy R.; Valadares E.; De Michelena M.; Mabe P.; Martinhago C.D.; Pina-Neto J.M.; Kok F.; Leistner-Segal S.; Burin M.G.; Giugliani R. (, 2007)