Suchergebnisse - "Alpha-Galactosidase"

PubPharm (3.715)

1

Does administration of hydroxychloroquine/amiodarone affect the efficacy of enzyme replacement therapy for Fabry mice?

enthalten in: Molecular genetics and metabolism reports | 2024

von Tsukimura, T. | Saito, K. | Shiga, T. | +3

2

Flow Cytometry-Based Assay to Detect Alpha Galactosidase Enzymatic Activity at the Cellular Level

enthalten in: Cells | 2024

von Fekete, N. | Li, L. | Kozma, G. | +3

3

Long-Term Clinical-Pathologic Results of Enzyme Replacement Therapy in Prehypertrophic Fabry Disease Cardiomyopathy

enthalten in: Journal of the American Heart Association | 2024

von Frustaci, A. | Verardo, R. | Galea, N. | +9

4

Newborn genetic screening for Fabry disease : Insights from a retrospective analysis in Nanjing, China

enthalten in: Clinica chimica acta; international journal of clinical chemistry | 2024

von Sun, Y. | Guan, X. | Wang, Y. | +7

5

Genetic variants of unknown significance in alpha-galactosidase A : Cellular delineation from Fabry disease

enthalten in: Journal of inherited metabolic disease | 2024

von Klein, A. | Klug, K. | Breyer, M. | +6

6

Phenotypic Expression and Outcomes in Patients with the p.Arg301Gln GLA Variant in Anderson-Fabry Disease

enthalten in: International journal of molecular sciences | 2024

von Blanco, R. | Rico-Ramírez, Y. | Hermida-Ameijeiras, �. | +17

7

Patient-reported experience with Fabry disease and its management in the real-world setting : results from a double-blind, cross-sectional survey of 280 respondents

enthalten in: Orphanet journal of rare diseases | 2024

von Berry, L. | Walter, J. | Johnson, J. | +6

8

Fabry disease in W162C mutation : a case report of two patients and a review of literature

enthalten in: BMC neurology | 2024

von Furia, A. | Ditaranto, R. | Biagini, E. | +5

9

Comment to : Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study-determination of immunogenicity

enthalten in: Journal of medical genetics | 2024

von Lenders, M. | Brand, E.

10

Genotype-phenotype analysis of Fabry disease caused by GLA gene variation in a pedigree

enthalten in: Zhonghua er ke za zhi = Chinese journal of pediatrics | 2024

von Ge, Z. | Lu, Z. | Pan, X. | +7

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