E-LIB Suche - Ergebnisse für: Schwartz, I. V. D.

1

Efficacy and safety of enzyme replacement therapy with algl..:

Dornelles, A. D. ; Junges, A. P. P. ; Krug, B....
Frontiers in Pediatrics. 12 (2024) - p. , 2024

Link: https://doi.org/10.3389/..

2

Burden of phenylketonuria in Latin American patients: a sys..:

Pessoa, A. L. S. ; Martins, A. M. ; Ribeiro, E. M....
Orphanet Journal of Rare Diseases. 17 (2022) 1 - p. , 2022

Link: https://doi.org/10.1186/..

3

Corrigendum to Universal newborn screening: A roadmap for a..:

Howson, C.P. ; Cedergren, B. ; Giugliani, R....
Molecular Genetics and Metabolism. 127 (2019) 3 - p. 216-217 , 2019

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

4

Infant mortality in Brazil attributable to inborn errors of..:

de Bitencourt, F. H. ; Schwartz, I. V. D. ; Vianna, F. S. L.
BMC Pediatrics. 19 (2019) 1 - p. , 2019

Link: https://doi.org/10.1186/..

5

Universal newborn screening: A roadmap for action:

Howson, C.P. ; Cedergren, B. ; Giugliani, R....
Molecular Genetics and Metabolism. 124 (2018) 3 - p. 177-183 , 2018

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

6

Liver disease in a cohort of patients with Gaucher disease ..:

Starosta, R. ; Dornelles, A.D. ; Vairo, F.P...
Journal of Hepatology. 68 (2018) - p. S632-S633 , 2018

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

7

Quality of life and adherence to treatment in early-treated..:

Vieira Neto, E. ; Maia Filho, H.S. ; Monteiro, C.B....
Brazilian Journal of Medical and Biological Research. 51 (2018) 2 - p. , 2018

Link: https://doi.org/10.1590/..

8

Analyses of disease-related GNPTAB mutations define a novel..:

Velho, R. V. ; De Pace, R. ; Klunder, S....
Human Molecular Genetics. 24 (2015) 12 - p. 3497-3505 , 2015

Link: https://doi.org/10.1093/..

9

Exome sequencing for mucolipidosis III: Detection of a nove..:

Sperb-Ludwig, F. ; Alegra, T. ; Velho, R.V....
Molecular Genetics and Metabolism Reports. 2 (2015) - p. 34-37 , 2015

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

10

Mucopolysaccharidosis type II: Identification of 30 novel m..:

Brusius-Facchin, A.C. ; Schwartz, I.V.D. ; Zimmer, C....
Molecular Genetics and Metabolism. 111 (2014) 2 - p. 133-138 , 2014

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

11

Mucolipidosis II and III alpha/beta in Brazil: Analysis of ..:

Cury, G.K. ; Matte, U. ; Artigalás, O....
Gene. 524 (2013) 1 - p. 59-64 , 2013

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

12

Enzyme replacement therapy for mucopolysaccharidosis VI: lo..:

Braunlin, E. ; Rosenfeld, H. ; Kampmann, C....
Journal of Inherited Metabolic Disease. 36 (2012) 2 - p. 385-394 , 2012

Link: https://doi.org/10.1007/..

13

The Management of Gaucher Disease in Developing Countries: ..:

Krug, B.C. ; Schwartz, I.V. ; de Oliveira, F. Lopes...
Public Health Genomics. 13 (2010) 1 - p. 27-33 , 2010

Link: https://www.jstor.org/st..

14

Evidence that l-Carnitine and Selenium Supplementation Redu..:

Sitta, A. ; Vanzin, C. S. ; Biancini, G. B....
Cellular and Molecular Neurobiology. 31 (2010) 3 - p. 429-436 , 2010

Link: https://doi.org/10.1007/..

15

Clinical and biochemical studies in mucopolysaccharidosis t..:

Schwartz, I. V. D. ; Pinto, L. L. C. ; Breda, G....
Journal of Inherited Metabolic Disease. 32 (2009) 6 - p. 732-738 , 2009

Link: https://doi.org/10.1007/..