E-LIB Suche - Ergebnisse für: Rocco, Maja Di

1

The effects of garetosmab in people with fibrodysplasia oss..:

Rocco, Maja Di ; J Pignolo, Robert ; Keen, Richard...
Future Rare Diseases. 4 (2024) 1 - p. , 2024

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

2

Screening for lysosomal diseases in a selected pediatric po..:

Di Rocco, Maja ; Vici, Carlo Dionisi ; Burlina, Alberto...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

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

3

OR29-06 Flare-Ups In Patients With Fibrodysplasia Ossifican..:

Dahir, Kathryn M ; McGinniss, Jennifer ; Forleo-Neto, Eduardo...
Journal of the Endocrine Society. 7 (2023) Supplement_1 - p. , 2023

Link: https://doi.org/10.1210/..

4

Multicentric Carpo-Tarsal Osteolysis Syndrome (MCTO) and "F..:

Ronchetti, Anna Bruna ; Usai, Marina ; Savino, Valentina...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

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

5

Long-term bone outcomes in Italian patients with Gaucher di..:

Cappellini, Maria Domenica ; Carubbi, Francesca ; Di Rocco, Maja..
Blood Cells, Molecules, and Diseases. 98 (2023) - p. 102705 , 2023

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

6

Garetosmab in fibrodysplasia ossificans progressiva: a rand..:

Di Rocco, Maja ; Forleo-Neto, Eduardo ; Pignolo, Robert J....
Nature Medicine. 29 (2023) 10 - p. 2615-2624 , 2023

Link: https://doi.org/10.1038/..

7

GAU-PED study for early diagnosis of Gaucher disease in chi..:

Pession, Andrea ; Di Rocco, Maja ; Venturelli, Francesco...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

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

8

Acid sphingomyelinase deficiency (ASMD): addressing knowled..:

Scarpa, Maurizio ; Barbato, Antonio ; Bisconti, Annalisa...
Internal and Emergency Medicine. 18 (2023) 3 - p. 831-842 , 2023

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

9

Subcutaneous nodules as a clinical biomarker of Farber dise..:

Mitchell, John ; Harmatz, Paul ; Selim, Laila...
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S84 , 2022

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

10

Search for biomarkers and prognostic indicators of liver de..:

Resaz, Roberta ; Cangelosi, Davide ; Segalerba, Daniela...
Journal of Hepatology. 77 (2022) - p. S515 , 2022

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

11

Farber disease clinical impact: Patient reported outcomes a..:

Mitchell, John ; Harmatz, Paul ; Selim, Laila...
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S83-S84 , 2022

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

12

Exosomal MicroRNAs as Potential Biomarkers of Hepatic Injur..:

Resaz, Roberta ; Cangelosi, Davide ; Segalerba, Daniela...
International Journal of Molecular Sciences. 23 (2021) 1 - p. 328 , 2021

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

13

Whole-body Computed Tomography Versus Dual Energy X‑ray Abs..:

Warner, Sarah E. ; Kaplan, Frederick S. ; Pignolo, Robert J....
Calcified Tissue International. 109 (2021) 6 - p. 615-625 , 2021

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

14

Fibrodysplasia Ossificans Progressiva: A Challenging Diagno..:

De Brasi, Daniele ; Orlando, Francesca ; Gaeta, Valeria...
Genes. 12 (2021) 8 - p. 1187 , 2021

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

15

New insights on fibrodysplasia ossificans progressiva: disc..:

Bolcato, Vittorio ; Carelli, Claudia ; Visonà, Silvia Damiana...
Intractable & Rare Diseases Research. 10 (2021) 2 - p. 136-141 , 2021

Link: https://doi.org/10.5582/..