E-LIB Suche - Ergebnisse für: Norato, Denise

1

Guidelines for the Management of Mucopolysaccharidosis Type..:

Martins, Ana Maria ; Dualibi, Ana Paula ; Norato, Denise...
The Journal of Pediatrics. 155 (2009) 4 - p. S32-S46 , 2009

Link: https://doi.org/10.1016/..

2

The MPS I registry: Design, methodology, and early findings..:

Pastores, Gregory M. ; Arn, Pamela ; Beck, Michael...
Molecular Genetics and Metabolism. 91 (2007) 1 - p. 37-47 , 2007

Link: https://doi.org/10.1016/..

3

A clinical study of 77 patients with mucopolysaccharidosis ..:

Schwartz, Ida VD ; Ribeiro, Márcia G ; Mota, João G...
Acta Paediatrica. 96 (2007) s455 - p. 63-70 , 2007

Link: https://doi.org/10.1111/..

4

Further cases of "neighbor" mutations in mucopolysaccharido..:

Schwartz, Ida V. D. ; Lima, Luciane C. ; Tylee, Karen...
American Journal of Medical Genetics Part A. 140A (2006) 15 - p. 1684-1686 , 2006

Link: https://doi.org/10.1002/..

5

Identification and characterization of 13 new mutations in ..:

Matte, Ursula ; Yogalingam, Gouri ; Brooks, Doug...
Molecular Genetics and Metabolism. 78 (2003) 1 - p. 37-43 , 2003

Link: https://doi.org/10.1016/..

6

Spondylocarpotarsal synostosis with ocular findings:

Steiner, Carlos Eduardo ; Torriani, Martin ; Norato, Denise Yvonne Janovitz.
American Journal of Medical Genetics. 91 (2000) 2 - p. 131-134 , 2000

Link: https://doi.org/10.1002/..

7

Metacarpophalangeal pattern profile in Marfan syndrome and ..:

de Oliveira Sobrinho, Ruy Pires ; Moretti-Ferreira, Danilo ; Contini, Andréia.
American Journal of Medical Genetics. 72 (1997) 2 - p. 159-163 , 1997

Link: https://doi.org/10.1002/..

8

Terapia de reposição enzimática para as mucopolissacaridose..:

Giugliani, Roberto ; Federhen, Andressa ; Rojas, Maria Verónica Muñoz...
GIUGLIANI, Roberto et al . Terapia de reposição enzimática para as mucopolissacaridoses I, II e VI: recomendações de um grupo de especialistas brasileiros. Rev. Assoc. Med. Bras., São Paulo, v. 56, n. 3, 2010 . Available from . access on 23 May 2012.. , 2010

Link: https://repositorio.ufms..

9

Terapia de reposição enzimática para as mucopolissacaridose..:

Giugliani, Roberto ; Federhen, Andressa ; Munoz Rojas, Maria Verônica...
Revista da Associação Médica Brasileira. , 2010

Link: http://repositorio.unife..

10

Mucopolysaccharidosis I, II, and VI: brief review and guide..:

Giugliani, Roberto ; Federhen, Andressa ; Munoz Rojas, Maria Verônica...
Genetics and Molecular Biology. , 2010

Link: http://repositorio.unife..

11

Terapia de reposição enzimática para as mucopolissacaridose..:

Giugliani, Roberto ; Federhen, Andressa ; Muñoz Rojas, Maria Verónica...
0104-4230. , 2010

Link: http://www.repositorio.u..

12

Mucopolysaccharidosis I, II, and VI: brief review and guide..:

Giugliani, Roberto ; Federhen, Andressa ; Muñoz Rojas, Maria Verônica...
Genet. Mol. Biol.,v.33,n.4,p.589-604,2010. , 2010

Link: http://repositorio.unb.b..

13

Guidelines for the Management of Mucopolysaccharidosis Type..:

Martins, Ana Maria UNIFESP ; Dualibi, Ana Paula UNIFESP ; Norato, Denise...
Journal of Pediatrics. , 2009

Link: http://repositorio.unife..

14

Terapia de reposição enzimática para as mucopolissacaridose..:

Giugliani, Roberto ; Federhen, Andressa ; Munõz Rojas, Maria Verônica...
Revista da Associação Médica Brasileira. São Paulo. Vol. 56, n. 3 (2010), p. 271-277. , 2010

Link: http://hdl.handle.net/10..

15

Mucopolysaccharidosis I, II, and VI : brief review and guid..:

Giugliani, Roberto ; Federhen, Andressa ; Munõz Rojas, Maria Verônica...
Genetics and molecular biology. Ribeirao Preto. Vol. 33, no. 4 (2010), p. 589-604. , 2010

Link: http://hdl.handle.net/10..