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
core
An open-label clinical trial of agalsidase alfa enzyme replacement therapy in children with Fabry disease who are naïve to enzyme replacement therapy. [PDF]
, 2016 BackgroundFollowing a drug manufacturing process change, safety/efficacy of agalsidase alfa were evaluated in enzyme replacement therapy (ERT)-naïve children with Fabry disease.MethodsIn an open-label, multicenter, Phase II study (HGT-REP-084; Shire), 14
Chang, Peter +7 more
core +2 more sources
Stroke and Fabry Disease: A Review of Literature
Cureus, 2020 Fabry disease is an X-linked lysosomal storage disorder caused by a mutation in the alpha-galactosidase A (GLA) gene, leading to the deficiency of alpha-galactosidase A enzyme.
V. Mishra +8 more
semanticscholar +1 more source
Mid‐Infrared Integrated Photonics: Material Platforms and Emerging Applications
Laser &Photonics Reviews, EarlyView.Mid‐infrared (MIR) integrated photonics enables advanced chemical and biological sensing through the unique absorption features of molecules in the 2–20 µm range. This review highlights recent material advances such as chalcogenide glasses, silicon, and graphene and explores MIR applications in environmental monitoring, medical diagnostics ...
Muhammad Ali Butt +2 more
wiley +1 more source
Modelling Fabry disease with kidney organoids derived from human embryonic stem cells using CRISPR-Cas9 mediated gene editing [PDF]
OrganoidBackground Fabry disease, a rare genetic disorder, arises from mutations in the α-galactosidase A gene (GLA), leading to Gb3 accumulation and multi-organ damage.
Su Jeong Lee +7 more
doaj +1 more source
Prevalence of Uncontrolled Hypertension in Patients With Fabry Disease [PDF]
, 2017 Background: Fabry disease is a rare X-linked disease arising from deficiency of α-galactosidase A. It results in early death related to renal, cardiac, and cerebrovascular disease, which are also important outcomes in patients with elevated blood ...
Beck, Michael +13 more
core
Perinatal Gene Transfer to the Liver [PDF]
, 2011 The liver acts as a host to many functions hence raising the possibility that any one may be compromised by a single gene defect. Inherited or de novo mutations in these genes may result in relatively mild diseases or be so devastating that death within
Buckley, SM +6 more
core +1 more source
Laser &Photonics Reviews, EarlyView.By precisely engineering the geometry of a fiber‐based optical resonator, the interaction between confined light and external ultrasound waves is significantly amplified without sacrificing light confinement, boosting the ultrasound detection sensitivity beyond 0.5 mPa/√Hz.
Tai‐Anh La +2 more
wiley +1 more source
Fabry disease: will markers of early disease enable early treatment and better outcomes? [PDF]
, 2016 PURPOSE OF REVIEW: This review explores the clinical and pathological features of Fabry disease. New modalities of imaging, biomarkers and long-term treatment effects are discussed. RECENT FINDINGS: Fabry disease is clinically heterogeneous, and in women
Hughes, DA
core
Functional Characterisation of Alpha-Galactosidase A Mutations as a Basis for a New Classification System in Fabry Disease [PDF]
, 2013 This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.The study has been ...
Giese, A-K +10 more
core +3 more sources