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PubPharm (270)
1
Multicentric Carpo-Tarsal Osteolysis Syndrome (MCTO) and "Function Profile" : a rehabilitative approach
enthalten in:
Orphanet journal of rare diseases
| 2023
von
Ronchetti, A.
|
Usai, M.
|
Savino, V.
| +5
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2
Multicentric Carpo-Tarsal Osteolysis Syndrome (MCTO) and “Function Profile”: a rehabilitative approach
enthalten in:
Orphanet journal of rare diseases
| 2023
von
Ronchetti, A.
|
Usai, M.
|
Savino, V.
| +5
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3
Garetosmab, an inhibitor of activin A, reduces heterotopic ossification and flare-ups in adults with fibrodysplasia ossificans progressiva: a randomized, double-blind, placebo-controlled phase 2 trial
enthalten in:
bioRxiv.org
| 2023
von
Di Rocco, M.
|
Forleo-Neto, E.
|
Pignolo, R.
| +33
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4
Garetosmab in fibrodysplasia ossificans progressiva : a randomized, double-blind, placebo-controlled phase 2 trial
enthalten in:
Nature medicine
| 2023
von
Di Rocco, M.
|
Forleo-Neto, E.
|
Pignolo, R.
| +33
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5
Screening for lysosomal diseases in a selected pediatric population : the case of Gaucher disease and acid sphingomyelinase deficiency
enthalten in:
Orphanet journal of rare diseases
| 2023
von
Di Rocco, M.
|
Vici, C.
|
Burlina, A.
| +7
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6
Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency
enthalten in:
Orphanet journal of rare diseases
| 2023
von
Di Rocco, M.
|
Vici, C.
|
Burlina, A.
| +7
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7
Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency
enthalten in:
Orphanet journal of rare diseases
| 2023
von
Di Rocco, M.
|
Vici, C.
|
Burlina, A.
| +7
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8
GAU-PED study for early diagnosis of Gaucher disease in children with splenomegaly and cytopenia
enthalten in:
Orphanet journal of rare diseases
| 2023
von
Pession, A.
|
Di Rocco, M.
|
Venturelli, F.
| +28
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9
GAU-PED study for early diagnosis of Gaucher disease in children with splenomegaly and cytopenia
enthalten in:
Orphanet journal of rare diseases
| 2023
von
Pession, A.
|
Di Rocco, M.
|
Venturelli, F.
| +17
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10
GAU-PED study for early diagnosis of Gaucher disease in children with splenomegaly and cytopenia
enthalten in:
Orphanet journal of rare diseases
| 2023
von
Pession, A.
|
Di Rocco, M.
|
Venturelli, F.
| +17
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Medienart
270
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E-Artikel
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Zeitschriftentitel
29
Orphanet journal of rare diseases
19
Human mutation
13
Molecular genetics and metabolism
10
Journal of inherited metabolic disease
8
Advances in therapy
8
American journal of medical genetics. Part A
6
Molecular cytogenetics
6
Pediatric neurology
5
American journal of human genetics
5
European journal of human genetics : EJHG
5
European journal of pediatrics
5
Journal of neurology
5
Nature genetics
4
American journal of medical genetics / C
4
Biochimica et biophysica acta
4
Blood cells, molecules & diseases
4
Bone
4
Calcified tissue international
4
Journal of medical genetics
4
Metabolic brain disease
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Thema
129
Journal Article
74
Research Support, Non-U.S. Gov't
33
Case Reports
19
Review
17
Gaucher disease
11
Heterotopic ossification
11
Research Support, N.I.H., Extramural
9
EC 3.2.1.45
9
Glucosylceramidase
8
Magnetic resonance imaging
7
Biomarkers
7
Brain MRI
7
Dual energy X-ray absorptiometry
7
Fibrodysplasia Ossificans Progressiva
7
Fibrodysplasia ossificans progressiva
7
Letter
6
1-Deoxynojirimycin
6
19130-96-2
6
ADN3S497AZ
6
Activin Receptors, Type I
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