Muñoz Rojas MV - Search Results

1

[Enzyme replacement therapy for mucopolysaccharidoses I, II and VI: recommendations from a group of Brazilian F experts].

Giugliani R, Federhen A, Muñoz Rojas MV, Vieira TA, Artigalás O, Pinto LL, Azevedo AC, Acosta AX, Bomfim C, Lourenço CM, Kim CA, Horovitz D, Souza DB, Norato D, Marinho D, Palhares D, Santos ES, Ribeiro E, Valadares ER, Guarany F, De Lucca GR, Pimentel H, Souza IN, Corrêa Neto J, Fraga JC, Góes JE, Cabral JM, Simeonato J, Llerena JC Jr, Jardim LB, Giuliani Lde R, Silva LC, Santos M, Moreira MA, Kerstenetzky M, Ribeiro M, Ruas N, Barrios P, Aranda P, Honjo R, Boy R, Costa R, Souza CF, Alcântara FF, Avilla SG, Fagondes S, Martins AM. Giugliani R, et al. Among authors: munoz rojas mv. Rev Assoc Med Bras (1992). 2010 May-Jun;56(3):271-7. doi: 10.1590/s0104-42302010000300009. Rev Assoc Med Bras (1992). 2010. PMID: 20676532 Free article. Portuguese.

2

Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression.

Munoz-Rojas MV, Vieira T, Costa R, Fagondes S, John A, Jardim LB, Vedolin LM, Raymundo M, Dickson PI, Kakkis E, Giugliani R. Munoz-Rojas MV, et al. Am J Med Genet A. 2008 Oct 1;146A(19):2538-44. doi: 10.1002/ajmg.a.32294. Am J Med Genet A. 2008. PMID: 18792977

3

Intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis.

Muñoz-Rojas MV, Horovitz DD, Jardim LB, Raymundo M, Llerena JC Jr, de Magalhães Tde S, Vieira TA, Costa R, Kakkis E, Giugliani R. Muñoz-Rojas MV, et al. Mol Genet Metab. 2010 Apr;99(4):346-50. doi: 10.1016/j.ymgme.2009.11.008. Epub 2009 Dec 5. Mol Genet Metab. 2010. PMID: 20036175

4

New mutations in the GLA gene in Brazilian families with Fabry disease.

Turaça LT, Pessoa JG, Motta FL, Muñoz Rojas MV, Müller KB, Lourenço CM, Junior Marques W, D'Almeida V, Martins AM, Pesquero JB. Turaça LT, et al. Among authors: munoz rojas mv. J Hum Genet. 2012 Jun;57(6):347-51. doi: 10.1038/jhg.2012.32. Epub 2012 May 3. J Hum Genet. 2012. PMID: 22551898

5

Inclusion of medical genetics in primary health care: report of a pilot project in Brazil.

Vieira TA, Giugliani C, da Silva LP, Faccini LS, Loguercio Leite JC, Artigalás OA, Medeiros Lenz ML, Muñoz-Rojas MV, Giugliani R. Vieira TA, et al. Among authors: munoz rojas mv. J Community Genet. 2013 Jan;4(1):137-45. doi: 10.1007/s12687-012-0110-4. Epub 2012 Jul 25. J Community Genet. 2013. PMID: 22829114 Free PMC article. No abstract available.

6

Clinical manifestations and treatment of mucopolysaccharidosis type I patients in Latin America as compared with the rest of the world.

Muñoz-Rojas MV, Bay L, Sanchez L, van Kuijck M, Ospina S, Cabello JF, Martins AM. Muñoz-Rojas MV, et al. J Inherit Metab Dis. 2011 Oct;34(5):1029-37. doi: 10.1007/s10545-011-9336-2. Epub 2011 May 4. J Inherit Metab Dis. 2011. PMID: 21541721 Free PMC article.

7

Short stature as a presenting symptom of attenuated Mucopolysaccharidosis type I: case report and clinical insights.

Martins AM, Lindstrom K, Kyosen SO, Munoz-Rojas MV, Thibault N, Polgreen LE. Martins AM, et al. Among authors: munoz rojas mv. BMC Endocr Disord. 2018 Nov 12;18(1):83. doi: 10.1186/s12902-018-0311-x. BMC Endocr Disord. 2018. PMID: 30419879 Free PMC article.

8

Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry.

Clarke LA, Giugliani R, Guffon N, Jones SA, Keenan HA, Munoz-Rojas MV, Okuyama T, Viskochil D, Whitley CB, Wijburg FA, Muenzer J. Clarke LA, et al. Among authors: munoz rojas mv. Clin Genet. 2019 Oct;96(4):281-289. doi: 10.1111/cge.13583. Epub 2019 Jul 2. Clin Genet. 2019. PMID: 31194252 Free PMC article.

9

Immune tolerance induction for laronidase treatment in mucopolysaccharidosis I.

Giugliani R, Vieira TA, Carvalho CG, Muñoz-Rojas MV, Semyachkina AN, Voinova VY, Richards S, Cox GF, Xue Y. Giugliani R, et al. Among authors: munoz rojas mv. Mol Genet Metab Rep. 2017 Jan 13;10:61-66. doi: 10.1016/j.ymgmr.2017.01.004. eCollection 2017 Mar. Mol Genet Metab Rep. 2017. PMID: 28119821 Free PMC article.

10

Clinical relevance of endpoints in clinical trials for acid sphingomyelinase deficiency enzyme replacement therapy.

Jones SA, McGovern M, Lidove O, Giugliani R, Mistry PK, Dionisi-Vici C, Munoz-Rojas MV, Nalysnyk L, Schecter AD, Wasserstein M. Jones SA, et al. Among authors: munoz rojas mv. Mol Genet Metab. 2020 Sep-Oct;131(1-2):116-123. doi: 10.1016/j.ymgme.2020.06.008. Epub 2020 Jun 24. Mol Genet Metab. 2020. PMID: 32616389 Free article. Review.

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