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1 . Academic Journal
Global reach of over 20 years of experience in the patient-centered Fabry Registry: Advancement of Fabry disease expertise and dissemination of real-world evidence to the Fabry community
저자
by
Wanner, Christoph
;
Ortiz, Alberto
;
Wilcox, William R.
;
Hopkin, Robert J.
;
Johnson, Jack
, et al.
소스
In
Molecular Genetics and Metabolism
July 2023 139(3)
Full Text (ScienceDirect)
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7 . Academic Journal
Changes in forced vital capacity over ≤ 13 years among patients with late-onset Pompe disease treated with alglucosidase alfa: new modeling of real-world data from the Pompe Registry.
저자
by
Berger, Kenneth I.
;
Chien, Yin-Hsiu
;
Dubrovsky, Alberto
;
Kishnani, Priya S.
;
Llerena Jr., Juan C.
, et al.
소스
Journal of Neurology
. Aug2024, Vol. 271 Issue 8, p5433-5446. 14p.
Web of Science
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7 . Academic Journal
Survival, cardiac, and pulmonary outcomes in individuals with attenuated MPS I receiving laronidase enzyme replacement therapy: Data from the MPS I Registry
저자
by
Ghosh, Arunabha
;
Giugliani, Roberto
;
Clarke, Lorne A.
;
Muschol, Nicole M.
;
Jones, Simon A.
, et al.
소스
In
Molecular Genetics and Metabolism
February 2024 141(2)
Full Text (ScienceDirect)
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7 . Academic Journal
GermLine Variation in Superoxide Dismutase-2 (SOD2) and Survival Outcomes After Radiation Therapy for Prostate Cancer: Results of a Test and Validation Set Analysis
저자
by
Margalit, Danielle N.
;
Jordahl, Kristina M.
;
Werner, Lillian
;
Wang, Xiaodong
;
Gwo-Shu Lee, Mary
, et al.
소스
In
Clinical Genitourinary Cancer
August 2015 13(4):370-377
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7 . Academic Journal
Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry.
저자
by
Kishnani, Priya S.
;
Kronn, David
;
Suwazono, Shugo
;
Broomfield, Alexander
;
Llerena, Juan
, et al.
소스
Orphanet Journal of Rare Diseases
. 12/6/2023, Vol. 18 Issue 1, p1-13. 13p.
Open Access (BioMed Central)
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7 . Academic Journal
Clinical relevance of globotriaosylceramide accumulation in Fabry disease and the effect of agalsidase beta in affected tissues.
저자
by
Tøndel, Camilla
;
Thurberg, Beth L.
;
DasMahapatra, Pronabesh
;
Lyn, Nicole
;
Maski, Manish
, et al.
소스
Molecular Genetics & Metabolism
. Dec2022, Vol. 137 Issue 4, p328-341. 14p.
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7 . Academic Journal
Cancer risk and gammopathies in 2123 adults with Gaucher disease type 1 in the International Gaucher Group Gaucher Registry.
저자
by
Rosenbloom, Barry E.
;
Cappellini, Maria Domenica
;
Weinreb, Neal J.
;
Dragosky, Marta
;
Revel‐Vilk, Shoshana
, et al.
소스
American Journal of Hematology; Oct2022, Vol. 97 Issue 10, p1337-1347, 11p
Full Text (Wiley)
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7 . Academic Journal
The International Collaborative Gaucher Group GRAF (Gaucher Risk Assessment for Fracture) score: a composite risk score for assessing adult fracture risk in imiglucerase-treated Gaucher disease type 1 patients.
저자
by
Deegan, Patrick
;
Khan, Aneal
;
Camelo, José Simon
;
Batista, Julie L.
;
Weinreb, Neal
, et al.
소스
Orphanet Journal of Rare Diseases
. 2/18/2021, Vol. 16 Issue 1, p1-15. 15p.
Open Access (BioMed Central)
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7 . Book
Epidemiology of Hematologic Malignancies.
저자
by
Batista, Julie L.
;
Birmann, Brenda M.
;
Epstein, Mara Meyer
.
소스
Pathology & Epidemiology of Cancer; 2017, p543-569, 27p
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5 . Academic Journal
Midlife metabolic factors and prostate cancer risk in later life.
저자
by
Dickerman, Barbra A.
;
Torfadottir, Johanna E.
;
Valdimarsdottir, Unnur A.
;
Wilson, Kathryn M.
;
Steingrimsdottir, Laufey
, et al.
소스
International Journal of Cancer; Mar2018, Vol. 142 Issue 6, p1166-1173, 8p
Full Text (Wiley)
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