Results 61 to 70 of about 167,688 (127)
Molecular Genetics &Genomic Medicine, Volume 12, Issue 12, December 2024.The genotype and phenotype of Mexican patients with Fabry disease (FD) are similar to other populations. Atypical phenotype of FD, such as the one associated with the novel variant c.122C>G, can be a diagnostic challenge, as it can be mixed up with multiple sclerosis.
Tamara N. Kimball +5 more
wiley +1 more source
Clinical Case Reports, Volume 12, Issue 10, October 2024.Key Clinical Message Anderson‐Fabry disease, a rare X‐linked lysosomal disorder, and congenital dyserythropoietic anemia (CDA) Type II, an autosomal recessive condition, both have distinct inheritance patterns. Their co‐occurrence is extremely rare, never been reported before.
Yasmine Elsherif +3 more
wiley +1 more source
Journal of Inherited Metabolic Disease, Volume 47, Issue 5, Page 1080-1095, September 2024.Abstract Fabry Registry data were analyzed among 83 agalsidase beta‐treated patients with Fabry disease who switched to migalastat. Outcomes (estimated glomerular filtration rate [eGFR], urine protein‐creatinine ratio [UPCR], plasma globotriaosylceramide [GL‐3], plasma globotriaosylsphingosine [lyso‐GL‐3], interventricular septal wall thickness [IVST],
Antonio Pisani +10 more
wiley +1 more source
Molecular Genetics and Metabolism Reports, 2020 The efficacy of enzyme replacement therapy (ERT) for lysosomal storage diseases (LSDs) possibly depends on the cellular uptake of recombinant lysosomal enzymes (LEs), and it is known that cation-independent mannose 6-phosphate receptor (CI-M6PR) on the ...
Minori Kanzaki +4 more
doaj +1 more source
Aseptic meningitis and Fabry disease
Annals of Clinical and Translational Neurology, Volume 11, Issue 6, Page 1430-1441, June 2024.Abstract Objective Fabry disease is caused by enzymatic defects in alpha‐galactosidase A that leads to the accumulation of glycosphingolipids throughout the body, resulting in a multisystemic disorder. The most common neurological manifestations are neuropathic pain, autonomic nervous system dysfunction and strokes, but some rarer neurological ...
Camille Montardi +6 more
wiley +1 more source
Molecular Genetics and Metabolism Reports, 2019 Background: Enzyme replacement therapy (ERT) with recombinant human α-galactosidase has been available for the treatment of Fabry disease since 2001 in Europe and 2003 in the USA.
Dominique P. Germain +15 more
doaj +1 more source
No evidence of Fabry disease in a patient with the new p.Met70Val GLA gene variant
Molecular Genetics &Genomic Medicine, Volume 12, Issue 6, June 2024.In this case report, we describe the case of an asymptomatic adult female who was found to have a new variant of unknown significance, p.Met70Val. Given the unknown pathogenic role of this variant, a thorough analysis of the potential organ involvement was conducted.
Irene Capelli +9 more
wiley +1 more source
A 15-Year Perspective of the Fabry Outcome Survey
Journal of Inborn Errors of Metabolism and Screening, 2016 The Fabry Outcome Survey (FOS) is an international long-term observational registry sponsored by Shire for patients diagnosed with Fabry disease who are receiving or are candidates for therapy with agalsidase alfa (agalα).
Roberto Giugliani MD, PhD +9 more
doaj +1 more source
Arquivos de Neuro-Psiquiatria, 2006 PURPOSE: To report the clinical and neuroimaging, central nervous system (CNS) findings of patients with Fabry disease (FD) during 24 months of enzyme replacement therapy (ERT) with agalsidase-alpha. METHOD: Eight patients were included. Six completed 24
Laura B. Jardim +11 more
doaj +1 more source
, 2012 The interruption of the manufacturing process of agalsidase beta has led to a worldwide shortage of this drug. In the EU, nearly all patients initially reduced their agalsidase beta dose, and many of these switched to agalsidase alfa (Replagal Shire HGT).
Alessandro P. Burlina +51 more
core +1 more source