E-LIB Suche - Ergebnisse für: Giugliani, R.

1

NEONATAL INTRAVENOUS INJECTION OF CRISPR/CAS9 LIPOSOMAL COM..:

Pereira, B.L.S. ; Couto, E.P. ; Poletto, E....
Cytotherapy. 24 (2022) 10 - p. S29 , 2022

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

2

BONE DISEASE IN MUCOPOLYSACCHARIDOSIS I: MORPHOLOGICAL AND ..:

Santos, H. ; Gaviolli, E. ; Leitune, V....
Cytotherapy. 24 (2022) 10 - p. S28-S29 , 2022

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

3

PB2314: OLIPUDASE ALFA FOR ADULTS WITH ACID SPHINGOMYELINAS..:

Villarrubia, J. ; Wasserstein, M. ; Barbato, A....
HemaSphere. 6 (2022) - p. 2183-2184 , 2022

Link: https://doi.org/10.1097/..

4

Standardising clinical outcomes measures for adult clinical..:

Moreno-Martinez, D. ; Aguiar, P. ; Auray-Blais, C....
Molecular Genetics and Metabolism. 132 (2021) 4 - p. 234-243 , 2021

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

5

GENE EDITING OF FIBROBLAST-LIKE SYNOVIOCYTES FROM MUCOPOLYS..:

Santos, HS ; Vera, LNP ; Rodrigues, G...
Cytotherapy. 23 (2021) 4 - p. 16 , 2021

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

6

Evidence for inflammasome activation in the brain of mucopo..:

Azambuja, A. S. ; Pimentel-Vera, L. N. ; Gonzalez, E. A....
Metabolic Brain Disease. 35 (2020) 7 - p. 1231-1236 , 2020

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

7

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/..

8

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/..

9

A randomized placebo-controlled phase 3 trial of an antisen..:

Goemans, Nathalie ; Mercuri, Eugenio ; Belousova, Elena...
Neuromuscular Disorders. 28 (2018) 1 - p. 4-15 , 2018

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

10

Worldwide distribution of common IDUA pathogenic variants:

Poletto, E. ; Pasqualim, G. ; Giugliani, R...
Clinical Genetics. 94 (2018) 1 - p. 95-102 , 2018

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

11

Clinical outcomes in a subpopulation of adults with Morquio..:

Hughes, D. ; Giugliani, R. ; Guffon, N....
Orphanet Journal of Rare Diseases. 12 (2017) 1 - p. , 2017

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

12

Evaluation of impact of anti-idursulfase antibodies during ..:

Giugliani, R. ; Harmatz, P. ; Jones, S.A....
Molecular Genetics and Metabolism Reports. 12 (2017) - p. 2-7 , 2017

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

13

Selective screening of Niemann–Pick type C Brazilian patien..:

Ribas, G.S. ; Souza, H.M. ; de Mari, J....
Clinica Chimica Acta. 459 (2016) - p. 57-62 , 2016

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

14

Extended use of dried-leukocytes impregnated in filter pape..:

Camelier, M. ; De Mari, J. ; Burin, M...
Clinica Chimica Acta. 446 (2015) - p. 218-220 , 2015

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

15

Galactocerebrosidase assay on dried-leukocytes impregnated ..:

Camelier, M. ; Civallero, G. ; De Mari, J...
Clinica Chimica Acta. 438 (2015) - p. 178-180 , 2015

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