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PubPharm (261)
1
Use of T1 mapping in cardiac MRI for the follow-up of Fabry disease in a pediatric population
enthalten in:
Molecular genetics and metabolism reports
| 2024
von
Werner, O.
|
Ichay, L.
|
Djouadi, N.
| +5
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2
Reconceptualizing podocyte damage in Fabry disease : new findings identify α-synuclein as a putative therapeutic target
enthalten in:
Kidney international
| 2024
von
Germain, D.
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3
Impact of GLA Variant Classification on the Estimated Prevalence of Fabry Disease : A Systematic Review and Meta-Analysis of Screening Studies
enthalten in:
Circulation. Genomic and precision medicine
| 2023
von
Monda, E.
|
Diana, G.
|
Graziani, F.
| +9
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4
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
enthalten in:
Molecular genetics and metabolism
| 2023
von
Wanner, C.
|
Ortiz, A.
|
Wilcox, W.
| +14
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5
Screening of Fabry disease in patients with an implanted permanent pacemaker
enthalten in:
International journal of cardiology
| 2023
von
Fingrova, Z.
|
Havranek, S.
|
Sknouril, L.
| +11
CommentIn: Int J Cardiol. 2023 Apr 15;377:89-90. - PMID 36640960
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6
Venglustat, an orally administered glucosylceramide synthase inhibitor : Assessment over 3 years in adult males with classic Fabry disease in an open-label phase 2 study and its extension study
enthalten in:
Molecular genetics and metabolism
| 2023
von
Deegan, P.
|
Goker-Alpan, O.
|
Geberhiwot, T.
| +14
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7
Clinical outcomes among young patients with Fabry disease who initiated agalsidase beta treatment before 30 years of age : An analysis from the Fabry Registry
enthalten in:
Molecular genetics and metabolism
| 2023
von
Hopkin, R.
|
Cabrera, G.
|
Jefferies, J.
| +15
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8
The Benefits of Family Screening in Rare Diseases : Genetic Testing Reveals 165 New Cases of Fabry Disease among At-Risk Family Members of 83 Index Patients
enthalten in:
Genes
| 2022
von
Moiseev, S.
|
Tao, E.
|
Moiseev, A.
| +4
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9
An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease
enthalten in:
Molecular genetics and metabolism
| 2022
von
Germain, D.
|
Altarescu, G.
|
Barriales-Villa, R.
| +6
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10
Challenging the traditional approach for interpreting genetic variants : Lessons from Fabry disease
enthalten in:
Clinical genetics
| 2022
von
Germain, D.
|
Levade, T.
|
Hachulla, E.
| +6
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Molecular genetics and metabolism
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Orphanet journal of rare diseases
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7
European journal of medical genetics
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Genetics in medicine : official journal of the ...
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Presse medicale (Paris, France : 1983)
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BMC medical genetics
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Annals of vascular surgery
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American journal of human genetics
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Kidney international
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Thema
111
Journal Article
61
EC 3.2.1.22
61
alpha-Galactosidase
50
Fabry disease
49
Research Support, Non-U.S. Gov't
30
Review
22
agalsidase beta
21
Isoenzymes
20
RZD65TSM9U
14
Trihexosylceramides
14
globotriaosylceramide
13
71965-57-6
12
Enzyme replacement therapy
11
Case Reports
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Recombinant Proteins
7
Agalsidase beta
7
GLA protein, human
7
Randomized Controlled Trial
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1-Deoxynojirimycin
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2020-
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2010-2019
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