Results 1 to 10 of about 907 (127)

Adequate hemodialysis does not compromise the cardioprotective effect of agalsidase alfa on patients with Fabry disease: a case report [PDF]

Journal of Medical Case Reports
Background Fabry disease is an inherited lysosomal storage disease that can be reversed, or the progression slowed, by enzyme replacement therapy in the early stage.
Xiansen Wei, Shimin Jiang, Li Zhuo, Hong Jiang, Wenge Li   +4 more
doaj   +2 more sources

Fabry Disease Nephropathy: Compendium of “in vitro” and “in vivo” Renal Effects of Globotriaosylsphingosine [PDF]

Kidney & Blood Pressure Research
Background: Renal damage in Fabry disease (FD) is a consequence of pathological and progressive glycosphingolipids accumulation, which occurs in different magnitudes among FD phenotypes, but is a constant renal tissue phenomenon in all ...
Sebastián Pedro Antonio Jaurretche, María Victoria del Rosal, María Luana Brajkovic, Juan Ignacio Isaac, Graciela Venera, Germán Pérez   +5 more
doaj   +2 more sources

Effectiveness and tolerability of migalastat in adult Fabry disease: A single regional centre experience [PDF]

Molecular Genetics and Metabolism Reports
Background: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by deficient α-galactosidase A (α-Gal) activity, leading to progressive renal, cardiac, and cerebrovascular involvement.
Eamon P. McCarron, Rajkumar Chinnadurai, Karolina M. Stepien, John Bassett, Jonathan Meyer, Reena Sharma, Peter Woolfson, Ana Jovanovic   +7 more
doaj   +2 more sources

Case Report: Novel GLA mutation in a Chinese female with renal-predominant Fabry disease and cardiac hypertrophy [PDF]

Frontiers in Genetics
BackgroundFabry disease (FD) is a rare X-linked lysosomal storage disorder caused by GLA gene mutations, leading to deficient α-galactosidase A (α-Gal A) activity and progressive accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine ...
Lanxin Li, Tianyu Chang, Xichen Li, Yinglu Hao, Min Deng, Yanping Li   +5 more
doaj   +2 more sources

Does administration of hydroxychloroquine/amiodarone accelerate accumulation of globotriaosylceramide and globotriaosylsphingosine in Fabry mice?

Molecular Genetics and Metabolism Reports, 2021
Drug-induced lysosomal storage disease (DILSD) caused by cationic amphiphilic drugs (CADs), which exhibits toxic manifestations and pathological findings mimicking Fabry disease (α-galactosidase A deficiency), has attracted the interests of clinicians ...
Yasuhiro Ogawa, Tadayasu Togawa, Takahiro Tsukimura   +2 more
exaly   +3 more sources

Distinctive accumulation of globotriaosylceramide and globotriaosylsphingosine in a mouse model of classic Fabry disease

Molecular Genetics and Metabolism Reports, 2023
Fabry disease (FD) is an inherited disease caused by deficient α-galactosidase A activity that is characterized by the accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3).
Satoshi Ishii, Atsumi Taguchi
exaly   +3 more sources

Liver Gene Therapy in Fabry Disease Mice With Low Doses of rAAV2/8 Expressing a Codon-Optimized hGLA cDNA Results in Long-Term Disease Correction. [PDF]

J Inherit Metab Dis
AAV‐mediated gene therapy targets the liver to produce and secrete into circulation functional α‐Gal A, which is taken up by tissues to reduce glycosphingolipid accumulation and prevent disease progression in juvenile Fabry mice, even at low AAV doses. ABSTRACT Fabry disease (FD) is an X‐linked lysosomal storage disorder caused by mutations in the GLA ...
Saxena H, Domenis R, Romano G, Biasizzo J, Ferro M, Ferino D, Vicidomini A, Iaconcig A, Bortolussi G, Zentilin L, Dardis A, Muro AF.   +11 more
europepmc   +2 more sources

A new multiplex analysis of glucosylsphingosine and globotriaosylsphingosine in dried blood spots by tandem mass spectrometry

Molecular Genetics and Metabolism Reports, 2023
Background: Gaucher's and Fabry's disease are two of the most common treatable lysosomal storage diseases, and have a wide spectrum of clinical symptoms. Early detection is important, because timely initiation of treatments can improve the disease status
Amber Van Baelen
exaly   +3 more sources

Plasma mutant α-galactosidase A protein and globotriaosylsphingosine level in Fabry disease

Molecular Genetics and Metabolism Reports, 2014
Fabry disease is an X-linked genetic disorder characterized by deficient activity of α-galactosidase A (GLA) and accumulation of glycolipids, and various GLA gene mutations lead to a wide range of clinical phenotypes from the classic form to the later ...
Kazuki Ohno, Futoshi Shibasaki, Tadayasu Togawa   +2 more
exaly   +3 more sources

Females with Fabry disease: an expert opinion on diagnosis, clinical management, current challenges and unmet needs [PDF]

Frontiers in Cardiovascular Medicine
Females with Fabry disease (FD) often have a milder phenotype, later symptom onset, and slower disease progression than males, causing delayed diagnosis and undertreatment.
Antonino Tuttolomondo, Cristina Chimenti, Vittoria Cianci, Maurizio Gallieni, Chiara Lanzillo, Antonella La Russa, Giuseppe Limongelli, Renzo Mignani, Renzo Mignani, Iacopo Olivotto, Federico Pieruzzi, Federico Pieruzzi, Antonio Pisani   +12 more
doaj   +2 more sources