Results 31 to 40 of about 9,057,553 (322)
Molecular Genetics & Genomic Medicine, 2021 Family genetic testing of patients newly diagnosed with a rare genetic disease can improve early diagnosis of family members, allowing patients to receive disease‐specific therapies when available.
D. Germain +18 more
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The Fabry disease-associated lipid Lyso-Gb3 enhances voltage-gated calcium currents in sensory neurons and causes pain [PDF]
, 2015 Fabry disease is an X-linked lysosomal storage disorder characterised by accumulation of glycosphingolipids, and accompanied by clinical manifestations, such as cardiac disorders, renal failure, pain and peripheral neuropathy.
Choi, L +7 more
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Fabry Disease Cardiac Involvement: Strengthen the Understanding of Early Diagnosis and Treatment
罕见病研究, 2023 Fabry disease is an X-linked inherited lysosomal storage disorder caused by mutations of the GLA gene, resulting in the decreased a-galactosidase A activity and the accumulation of its substrate globotriasylceramide (GL-3) in the heart, kidney and other ...
LI Zhuojin, JIN Wei
doaj +1 more source
Lentivector Transduction Improves Outcomes Over Transplantation of Human HSCs Alone in NOD/SCID/Fabry Mice [PDF]
, 2012 Fabry disease is a lysosomal storage disorder caused by a deficiency of a-galactosidase A (a-gal A) activity that results in progressive globotriaosylceramide (Gb(3)) deposition.
Au, Bryan C. Y. +7 more
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Developments in the treatment of Fabry disease
Journal of Inherited Metabolic Disease, 2020 Enzyme replacement therapy (ERT) with recombinant α‐galactosidase A (r‐αGAL A) for the treatment of Fabry disease has been available for over 15 years. Long‐term treatment may slow down disease progression, but cardiac, renal, and cerebral complications ...
S. J. Veen +3 more
semanticscholar +1 more source
Ileocecal appendix involvement in fabry disease mimicking an acute abdomen [PDF]
, 2014 Anderson-Fabry disease (AFD) is a rare, X-linked, lysosomal storage disorder due to a deficiency of alphagalactosidase A. The direct consequence is a lipid storage with the accumulation of glycosphingolipids throughout the body.
Cristi E +5 more
core +1 more source
Prevalence of Fabry disease-causing variants in the UK Biobank
Journal of Medical Genetics, 2021 Background Fabry disease is an X-linked lysosomal storage disorder resulting from deficiency of the alpha-galactosidase A enzyme leading to accumulation of globotriaosylceramide in multiple organ sites with prominent cardiovascular and renal involvement.
M. Gilchrist +8 more
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X Chromosome Inactivation in Carriers of Fabry Disease: Review and Meta-Analysis
International Journal of Molecular Sciences, 2021 Anderson-Fabry disease is an X-linked inborn error of glycosphingolipid catabolism caused by a deficiency of α-galactosidase A. The incidence ranges between 1: 40,000 and 1:117,000 of live male births. In Italy, an estimate of incidence is available only
E. Viggiano, L. Politano
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Anais Brasileiros de Dermatologia, 2009 A doença de Fabry é enfermidade de armazenamento lisossômico rara, ligada ao cromossomo-X, causada pela deficiência parcial ou completa da enzima alfagalactosidase A.
Paula Boggio +3 more
doaj +1 more source
Renal Manifestations of Fabry Disease: A Narrative Review
Canadian Journal of Kidney Health and Disease, 2021 Purpose of review: In this narrative review, we describe general aspects, histological alterations, treatment, and implications of Fabry disease (FD) nephropathy.
Cassiano Augusto Braga Silva +4 more
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