Results 101 to 110 of about 9,057,553 (322)
Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source
Late diagnosis of Fabry disease caused by a de novo mutation in a patient with end stage renal disease. [PDF]
, 2015 BACKGROUND: We present the case of a white 35-year-old male with a diagnosis of Fabry disease and negative family history. CASE PRESENTATION: At the age of 31, he underwent a renal biopsy with a diagnosis of hypertension-induced nephroangiosclerosis.
Daniele, Aurora +5 more
core +3 more sources
Journal of Biophotonics, EarlyView.Line‐field confocal optical coherence tomography (LC‐OCT) is used to determine the human skin in vivo optical properties (OPs) modifications caused by biocompatible optical clearing. After a prior calibration using a phantom with determined OPs, a theoretical model is applied to mean in‐depth intensity profiles of 3D LC‐OCT images acquired during ...
Sergey M. Zaytsev +5 more
wiley +1 more source
Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study.
Journal of the American Society of Nephrology, 2017 Fabry disease leads to renal, cardiac, and cerebrovascular manifestations. Phenotypic differences between classically and nonclassically affected patients are evident, but there are few data on the natural course of classical and nonclassical disease in ...
M. Arends +10 more
semanticscholar +1 more source
Molecular Genetics and Metabolism Reports, 2019 Fabry disease is an X-linked lysosomal storage disorder which often presents with renal, cardiac, gastrointestinal, and nervous system abnormalities. Available enzyme replacement therapies have demonstrated efficacy at significantly reducing elevated ...
Amy Kritzer +3 more
doaj
Small Methods, EarlyView.This review summarizes recent progress in the design and nanoarchitectural control of bimetallic metal–organic frameworks (MOFs) and their applications in quartz crystal microbalance (QCM) sensors for the detection of various gases. It also discusses the underlying sensing mechanisms of bimetallic MOFs and concludes with challenges and future ...
Silvia Chowdhury +4 more
wiley +1 more source
Turkish Journal of Internal Medicine, 2020 Fabry disease, also known as Anderson-Fabry disease, is a X-linked lysosomal storage disease. Alpha-galactosidase A (alpha-Gal A) enzyme deficiency leads globotriaosylceramide (Gb3) accumulation in several cells which causes clinical manifestations of ...
Aysegul Oruc
doaj
Molecular Genetics and Metabolism Reports, 2021 In Fabry disease, accumulation of glycolipids, predominantly globotriaosylceramide (Gb3), affects the kidneys, and nephropathy is one of the important disorders that influence the disease severity and prognosis of patients.
Tomoko Shiga +4 more
doaj
Female Fabry disease patients and X-chromosome inactivation [PDF]
, 2018 Fabry disease is an X-linked inherited lysosomal storage disorder caused by mutations in the gene encoding α- galactosidase A (GLA). Once it was thought to affect only hemizygous males.
Gabig-Cimińska, Magdalena +7 more
core +1 more source
Clinical pharmacology and therapy, 2019 Long‐term effects of migalastat therapy in clinical practice are currently unknown. We evaluated migalastat efficacy and biomarker changes in a prospective, single‐center study on 14 patients with Fabry disease (55 ± 14 years; 11 men).
Jonas Müntze +10 more
semanticscholar +1 more source