Results 41 to 50 of about 10,281 (167)
Non-compaction cardiomyopathy – brief review [PDF]
, 2017 Left ventricular non-compaction cardiomyopathy is a genetic disorder characterized by the presence of two myocardial layers with numerous prominent trabeculations and deep inter-trabecular recesses that communicate with the ventricular cavity.
Berceanu, Mihaela +7 more
core +3 more sources
Background-deflection Brillouin microscopy reveals altered biomechanics of intracellular stress granules by ALS protein FUS [PDF]
, 2018 Altered cellular biomechanics have been implicated as key photogenic triggers in age-related diseases. An aberrant liquid-to-solid phase transition, observed in in vitro reconstituted droplets of FUS protein, has been recently proposed as a possible ...
Antonacci, Giuseppe +3 more
core +3 more sources
Cardiac damage in Anderson–Fabry disease (clinical case)
Клинический разбор в общей медицинеThe fact that Anderson–Fabry disease is rarely found in clinical practice results in low physicians’ awareness of this disorder, leads to the delayed diagnosis and treatment.
Olga V. Dimitrieva +10 more
doaj +1 more source
La diagnosi precoce di malattia
Giornale di Clinica Nefrologia e Dialisi, 2019 Anderson-Fabry disease is an X-linked, lysosomal, storage disorder characterized by the decreased activity of alpha-Galactosidase A, which results in accumulation of globotriaosylceramide (Gb-3) in cells and tissues throughout the body, leading to a wide
Federica Rossi, Federico Pieruzzi
doaj +1 more source
Vesivirus 2117 capsids more closely resemble sapovirus and lagovirus particles than other known vesivirus structures [PDF]
, 2017 Vesivirus 2117 is an adventitious agent that in 2009, was identified as a contaminant of CHO cells propagated in bioreactors at a pharmaceutical manufacturing plant belonging to Genzyme.
Bhella, David +8 more
core +1 more source
Cognitive impairment and Fabry Disease: a case report with mutation S126G [PDF]
Neuropsychological Trends, 2016 Anderson-Fabry Disease is a lysosomal storage disease, multisystem, progressive, hereditary, linked to the X-chromosome. Specifically, it is characterized by a glycosphingolipid metabolism due to the reduction or absence of Alpha-galactosidase, an enzyme
Razza, Grazia +7 more
doaj +1 more source
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
Sonography, Volume 13, Issue 1, March 2026.ABSTRACT Introduction Speckle tracking strain imaging has become a routine part of echocardiography. However, despite the efforts of multiple associations and industry, there has been variation in results between vendors. We aimed to determine if modern strain analysis yielded results with improved reproducibility.
Rebecca Perry +3 more
wiley +1 more source
Gene therapy in Anderson-Fabry disease. State of the art and future perspectives
Cardiogenetics, 2020 Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme, agalactosidase A. The inadequate enzymatic activity leads to systemic storage of glycosphingolipids, mostly globotriaosylceramide, in ...
Giorgio Spiniello +6 more
doaj +1 more source
Ecological Entomology, Volume 51, Issue 1, Page 41-58, February 2026.Lagrangian atmospheric models were used in conjunction with ecophysiological factors to reconstruct the path and meteorological conditions of a long‐range migration flight of spruce budworm moths to Newfoundland, Canada. Moths travelled under high winds and warm temperatures that favoured their migratory flight until encountering cooler temperatures ...
Philippe Barnéoud +3 more
wiley +1 more source