Associated Papers
Physical Fitness and Physical Function in Patients With Fabry Disease: A Cross-Sectional Multicentre Study.
Vitturi N et al.
Journal of Cachexia, Sarcopenia and Muscle, 2026
Phenotypic Diversity on Cardiac Magnetic Resonance in a Han Family With Fabry Disease.
Li J et al.
Cjc Open, 2025
Increased Soluble Interleukin 6 Receptors in Fabry Disease.
Lenzini L et al.
Journal of Clinical Medicine, 2023
A phase II, multicenter, open-label trial to evaluate the safety and efficacy of ISU303 (Agalsidase beta) in patients with Fabry disease.
Hwang S et al.
Medicine, 2022
Fabry nephropathy before and after enzyme replacement therapy: important role of renal biopsy in patients with Fabry disease.
Kim IY et al.
Kidney Research and Clinical Practice, 2021
The Cardiovascular Phenotype in Fabry Disease: New Findings in the Research Field.
Sorriento D et al.
International Journal of Molecular Sciences, 2021
Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants.
Encarnação M et al.
International Journal of Molecular Sciences, 2020
Induced pluripotent stem cell line (INSAi002-A) from a Fabry Disease patient hemizygote for the rare p.W287X mutation.
Duarte AJ et al.
Stem Cell Research, 2020
Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype.
Choi JH et al.
Medicine, 2017
Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy.
Liguori R et al.
Plos One, 2017
Whole-blood alpha-D-galactosidase A activity for the identification of Fabry's patients.
Massaccesi L et al.
Clinical Biochemistry, 2011
The pulvinar sign: frequency and clinical correlations in Fabry disease.
Burlina AP et al.
Journal of Neurology, 2008
Lysosomal leukocyte beta-D-glucuronidase during enzyme replacement therapy in Fabry disease.
Goi G et al.
Biochimica Et Biophysica Acta, 2005
Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.
Schäfer E et al.
Human Mutation, 2005
Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease.
Davies J et al.
Human Molecular Genetics, 1994
Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene.
Eng CM et al.
Human Mutation, 1994
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