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1 . Academic Journal
Long-term bone outcomes in Italian patients with Gaucher disease type 1 or type 3 treated with imiglucerase: A sub-study from the International Collaborative Gaucher Group (ICGG) Gaucher Registry
저자
by
Cappellini, Maria Domenica
;
Carubbi, Francesca
;
Di Rocco, Maja
;
Giona, Fiorina
;
Giuffrida, Gaetano
.
소스
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Blood Cells, Molecules and Diseases
January 2023 98
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7 . Academic Journal
Defective FAS-Mediated Apoptosis and Immune Dysregulation in Gaucher Disease
저자
by
Miano, Maurizio
;
Madeo, Annalisa
;
Cappelli, Enrico
;
Lanza, Federica
;
Lanza, Tiziana
, et al.
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In
The Journal of Allergy and Clinical Immunology: In Practice
November-December 2020 8(10):3535-3542
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7 . Academic Journal
Targeted re-sequencing in pediatric and perinatal stroke
저자
by
G, Amico
;
L, Banov
;
V, Capra
;
R, Caorsi
;
F, Caroli
, et al.
소스
In
European Journal of Medical Genetics
November 2020 63(11)
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7 . Academic Journal
Self-reported baseline phenotypes from the International Fibrodysplasia Ossificans Progressiva (FOP) Association Global Registry
저자
by
Pignolo, Robert J.
;
Cheung, Kin
;
Kile, Sammi
;
Fitzpatrick, Mary Anne
;
De Cunto, Carmen
, et al.
소스
In
Bone
May 2020 134
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7 . Academic Journal
The FOP Connection Registry: Design of an international patient-sponsored registry for Fibrodysplasia Ossificans Progressiva
저자
by
Mantick, Neal
;
Bachman, Eric
;
Baujat, Genevieve
;
Brown, Matt
;
Collins, Oliver
, et al.
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In
Bone
April 2018 109:285-290
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7 . Academic Journal
The unusual association between Neuroblastoma and Gaucher Disease: Case report and review of the literature
저자
by
Madeo, Annalisa
;
Garaventa, Alberto
;
Sementa, Angela Rita
;
Suffia, Chiara
;
Di Rocco, Maja
.
소스
In
Blood Cells, Molecules and Diseases
February 2018 68:106-108
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7 . Academic Journal
Molecular and clinical characterization of a series of patients with childhood-onset lysosomal acid lipase deficiency. Retrospective investigations, follow-up and detection of two novel LIPA pathogenic variants
저자
by
Pisciotta, Livia
;
Tozzi, Giulia
;
Travaglini, Lorena
;
Taurisano, Roberta
;
Lucchi, Tiziano
, et al.
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In
Atherosclerosis
October 2017 265:124-132
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7 . Academic Journal
Management and monitoring recommendations for the use of eliglustat in adults with type 1 Gaucher disease in Europe
저자
by
Belmatoug, Nadia
;
Di Rocco, Maja
;
Fraga, Cristina
;
Giraldo, Pilar
;
Hughes, Derralynn
, et al.
소스
In
European Journal of Internal Medicine
January 2017 37:25-32
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7 . Academic Journal
Lack of prolidase causes a bone phenotype both in human and in mouse
저자
by
Besio, Roberta
;
Maruelli, Silvia
;
Gioia, Roberta
;
Villa, Isabella
;
Grabowski, Peter
, et al.
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In
Bone
March 2015 72:53-64
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7 . Academic Journal
Multicentric Carpo-Tarsal Osteolysis Syndrome (MCTO) and "Function Profile": a rehabilitative approach.
저자
by
Ronchetti, Anna Bruna
;
Usai, Marina
;
Savino, Valentina
;
Scaglione, Marco
;
Tacchino, Chiara Maria
, et al.
소스
Orphanet Journal of Rare Diseases
. 12/20/2023, Vol. 18 Issue 1, p1-10. 10p.
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