Journal of Inborn Errors of Metabolism and Screening, 2016 Fabry disease is a rare cause of end-stage renal disease. Renal pathology is notable for diffuse deposition of glycosphingolipid in the renal glomeruli, tubules, and vasculature.
Hernán Trimarchi MD, PhD
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Long-term enzyme replacement therapy is associated with reduced proteinuria and preserved proximal tubular function in women with Fabry disease [PDF]
, 2017 Background Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene. Deficiency of α-galactosidase A (α-Gal A) causes intracellular accumulations of globotriaosylceramide (GL-3) and related glycosphingolipids in all ...
Bibby, Bo M. +7 more
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Fabry disease in a large Nova Scotia kindred: carrier detection using leucocyte alpha-galactosidase activity and an NcoI polymorphism detected by an alpha-galactosidase cDNA clone. [PDF]
, 1991 A. J. Kirkilionis +3 more
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Effects of Enzyme Replacement Therapy and Antidrug Antibodies in Patients with Fabry Disease.
Journal of the American Society of Nephrology, 2018 Fabry disease (FD) is an X-linked lysosomal storage disorder (LSD) caused by mutations of the α-galactosidase A gene. The lysosomal enzyme α -galactosidase A (GLA) mediates the hydrolysis of the terminal α -galactosyl moiety from globotriaosylceramide ...
Malte Lenders, E. Brand
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Anderson-Fabry disease (angiokeratoma corporis diffusum universale). [PDF]
, 1990 K W Radcliffe, B A Evans
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Translation of quality of life scale for pediatric patients with Fabry disease in Japan
Molecular Genetics and Metabolism Reports, 2022 Introduction: Fabry disease is a rare, X-linked lysosomal storage disorder that begins in childhood with a wide variety of symptoms, including neuropathic pain, gastrointestinal abnormalities, and skin abnormalities.
Yuta Koto +6 more
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Update on the fluorometric measurement of enzymatic activities for Lysosomal Storage Disorder detection: The example of MPS VI [PDF]
, 2017 Lysosomal Storage Disorders (LSD) are rare diseases that as a whole havea combined incidence ranging from 1:1500 to 1:7000 live births. One of suchdiseases is Mucopolysaccharidosis VI (MPS VI), or Maroteaux Lamy Syndrome.MPS VI patients undergo ...
Adamo, Ana María +5 more
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Histopathological evidence of Fabry disease in a female patient with left ventricular noncompaction
Revista Portuguesa de Cardiologia, 2014 Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the alpha-galactosidase gene. The most frequent cardiac presentation of Fabry disease is cardiomyopathy characterized by left ventricular (LV) hypertrophy, usually ...
Elisabete Martins +6 more
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P02.251 Depression in patients with fabry disease [PDF]
, 2000 S V Kopishinskaya, А В Густов
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Pulmonary hypertension in adolescents with sickle cell disease [PDF]
, 2016 Sickle cell disease consists of a group of disorders that have a similar mutation in at least one of the beta-globin chains of hemoglobin. This results in a change of the hemoglobin to sickle shaped cells when in the deoxygenated state.
Akinyemi, Katherine
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