E-LIB Suche - Ergebnisse für: GIUGLIANI, Roberto

1

Efficacy and safety data (52-week) from a phase 1/2 trial a..:

Giugliani, Roberto ; Harmatz, Paul ; Martins, Ana Maria...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107852 , 2024

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

2

Bone disease in mucopolysaccharidosis type I: Morphological..:

Gonzalez, Esteban A. ; Santos, Hallana S. ; Leitune, Vicente C.B....
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107856 , 2024

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

3

A phase 2 study assessing TAK-611150 mg intrathecal weekly ..:

Adang, Laura A. ; Malanga, C.J. ; Burton, Barbara K....
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107744 , 2024

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

4

Transport®NPC: open phase 3 global trial of intravenous hyd..:

Hastings, Caroline A. ; Goker-Alpan, Ozlem ; Pena, Loren...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107875 , 2024

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

5

Disease characteristics, effectiveness, and safety of vestr..:

Giugliani, Roberto ; Gonzalez-Meneses, Antonio ; Scarpa, Maurizio...
Orphanet Journal of Rare Diseases. 19 (2024) 1 - p. , 2024

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

6

Development of a suspicion index tool to aid diagnosis of A..:

Wiesinger, Anna-Maria ; Lauth, Wanda ; Giugliani, Roberto...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 108082 , 2024

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

7

CAMPSIITE™ phase I/II/III: An interim clinical study update..:

Harmatz, Paul ; Ficicioglu, Can ; Giugliani, Roberto...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107874 , 2024

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

8

Interim results from the first-in-human intracisternal dosi..:

de Souza, Carolina Fischinger Moura ; Alves, Tamires ; Duarte, Juliana...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107970 , 2024

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

9

A Brazilian Rare-Disease Center's Experience with Glucosyls..:

Vernet Machado Bressan Wilke, Matheus ; Iop, Gabrielle Dineck ; Faqueti, Larissa...
International Journal of Molecular Sciences. 25 (2024) 5 - p. 2870 , 2024

Link: https://doi.org/10.3390/..

10

Evaluation of specific GAG-derived oligosaccharides distrib..:

Giugliani, Roberto ; Iop, Gabrielle ; Faqueti, Larissa...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108189 , 2024

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

11

Plain language summary of a study looking at whether geneti..:

Clarke, Lorne A ; Giugliani, Roberto ; Muenzer, Joseph
Future Rare Diseases. 4 (2024) 1 - p. , 2024

Link: https://doi.org/10.2217/..

12

A natural history study of late-infantile and juvenile GM1 ..:

Giugliani, Roberto ; Harmatz, Paul ; Héron, Bénédicte...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107850 , 2024

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

13

Biomarker distribution in tissues of MPS I mice: Measuremen..:

Iop, Gabrielle D. ; Faqueti, Larissa ; da Silva, Layzon Antonio Lemos...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107897 , 2024

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

14

A Delphi consensus approach to monitoring and integrated ca..:

Muschol, Nicole M. ; Burton, Barbara K. ; Ficicioglu, Can...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107974 , 2024

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

15

Early clinical response and continued safety with vestronid..:

Burton, Barbara ; Giugliani, Roberto ; Gonzalez-Meneses, Antonio...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108212 , 2024

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