Results 111 to 120 of about 9,057,553 (322)
Objectives Topical formulations are helpful and versatile management modalities for skin disorders. However, veterinary studies assessing their efficacies are limited. This study evaluated the effects of a protocol comprising the combined application of an Ophytrium‐based shampoo and a leave‐on mousse (DOUXO® S3 CALM range) on dogs with irritated and ...
N. Savelli+12 more
wiley +1 more source
Symptoms of autonomic dysfunction are common in Fabry disease. In this study we aimed to evaluate alterations in the pupillary response to white light stimulation in patients with Fabry disease and their association with the severity of autonomic ...
Gulfidan Bitirgen+3 more
doaj +1 more source
ABSTRACT Protein sequence design is a highly challenging task, aimed at discovering new proteins that are more functional and producible under laboratory conditions than their natural counterparts. Deep learning‐based approaches developed to address this problem have achieved significant success.
Ayşenur Soytürk Patat+1 more
wiley +1 more source
Background Fabry disease is an X-linked lysosomal storage disorder caused by GLA mutations, resulting in α-galactosidase (α-Gal) deficiency and accumulation of lysosomal substrates.
D. Hughes+37 more
semanticscholar +1 more source
Background: The multisystem manifestations of Fabry disease can create major challenges in patient care. Although enzyme replacement therapy with recombinant agalsidase beta has demonstrated clinical benefits, the standard fortnightly, multi-hour ...
Dominique P. Germain+6 more
doaj +1 more source
Heart failure in two male patients with late‐onset Fabry mutation (IVS4 + 919G > A)
ESC Heart Failure, Volume 12, Issue 2, Page 1508-1513, April 2025.
Xufei Yang+3 more
wiley +1 more source
Abstract Aims Patients with cardiomyopathies are a heterogeneous group of patients who experience high morbidity and mortality. Early cardiac assessment and intervention with access to genetic counselling in a multidisciplinary Cardiomyopathy Clinic may improve outcomes and prevent progression to advanced heart failure.
Chandu Sadasivan+12 more
wiley +1 more source
Abstract Aims Describe patient characteristics, treatment patterns, clinical outcomes, healthcare resource utilization (HCRU) and medical costs associated with patients who were diagnosed with obstructive hypertrophic cardiomyopathy (HCM) in clinical practice in England.
Faizel Osman+9 more
wiley +1 more source
Inter-familial and intra-familial phenotypic variability in three Sicilian families with Anderson-Fabry disease. [PDF]
BACKGROUND: Anderson-Fabry disease (AFD) is an inborn lysosomal enzymopathy resulting from the deficient or absent activity of the lysosomal exogalactohydrolase, α-galactosidase A.
Colomba P+14 more
core +1 more source
Abstract Aims A novel marker left atrioventricular coupling index (LACI) has been proved to be associated with cardiovascular events in patients without history of cardiovascular disease. However, the studies on cardiac magnetic resonance‐derived LACI in hypertrophic cardiomyopathy (HCM) patients are limited, and the prognostic value of LACI has still ...
Jinyang Wen+10 more
wiley +1 more source