E-LIB Suche - Ergebnisse für: Giugliani, Roberto

1

Improvements in liver and lipid outcomes continue in childr..:

Lachmann, Robin ; Ganesh, Jaya ; Giugliani, Roberto...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107927 , 2024

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

2

P486: A global Delphi consensus approach to monitoring and ..:

Ficicioglu, Can ; Muschol, Nicole ; Burton, Barbara...
Genetics in Medicine Open. 2 (2024) - p. 101385 , 2024

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

3

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

Pisani, Laura ; Ficicioglu, Can ; Harmatz, Paul...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108245 , 2024

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

4

Whole genome sequencing as a first‐tier diagnostic test for..:

Migliavacca, Michele P. ; Sobreira, Joselito ; Bermeo, Diana...
American Journal of Medical Genetics Part A. 194 (2024) 6 - p. , 2024

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

5

Vestronidase alfa for the treatment of mucopolysaccharidosi..:

Giugliani, Roberto ; Grant, Christina L. ; Scarpa, Maurizio...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107851 , 2024

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

6

Survival, cardiac, and pulmonary outcomes in individuals wi..:

Ghosh, Arunabha ; Giugliani, Roberto ; Clarke, Lorne A....
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107840 , 2024

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

7

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

Giugliani, Roberto ; Harmatz, Paul ; Héron, Bénédicte...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107849 , 2024

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

8

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

Giugliani, Roberto ; Harmatz, Paul ; Héron, Bénédicte...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107848 , 2024

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

9

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/..

10

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/..

11

Intra-articular administration of nonviral vectors aminh at..:

Schuh, Roselena S. ; Souza, Leticia J. ; Fachel, Flávia N.S....
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 108033 , 2024

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

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

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/..

14

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/..

15

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/..