Results 61 to 70 of about 57,841 (208)
Anderson-Fabry disease management: role of the cardiologist.
European Heart JournalAnderson-Fabry disease (AFD) is a lysosomal storage disorder characterized by glycolipid accumulation in cardiac cells, associated with a peculiar form of hypertrophic cardiomyopathy (HCM).
M. Pieroni +3 more
semanticscholar +1 more source
NEUROLOGICAL MANIFESTATIONS OF FABRY DISEASE IN CHILDREN AND ADOLESCENTS
Русский журнал детской неврологии, 2017 Fabry disease (Anderson–Fabry disease) is an X-linked recessive lysosomal storage disorder resulting from deficient activity of lysosomal hydrolase, alpha-galactosidase A, which leads to progressive accumulation of globotriaosylceramide (Gb3) in various ...
A. S. Kotov, K. V. Firsov
doaj +1 more source
Is it Fabry disease? Diagnostic and follow-up approach [PDF]
, 2016 A doença de Anderson-Fabry (DAF) é uma doença sistémica de sobrecarga lisossomal causada por mutações patogénicas do gene GLA (cromossoma X) que condicionam diminuição ou ausência α-galactosidase A e acumulação de globotriaosilceramida (Gb3) e outros ...
Aguiar, Patricio +5 more
core +2 more sources
Cardiovascular Ultrasound, 2005 Coronary flow reserve was assessed in a patient with Anderson-Fabry disease complicated by symmetric left ventricular hypertrophy. Coronary flow reserve was measurable in all three major coronary arteries providing an opportunity to compare regional ...
Undas Anetta +2 more
doaj +1 more source
Fabry-betegség – terápiás útmutató [PDF]
, 2010 A Fabry-kór a lizoszomális tárolási betegségek csoportjába tartozó, X-kromoszómához kötötten, recesszív módon öröklődő betegség, amely a globotriaozilceramid felhalmozódásához vezet a szervezet legkülönbözőbb szöveteiben.
Ambrus, Csaba +29 more
core +2 more sources
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
Clinical and Pathological Findings in Women with Fabry Disease [PDF]
, 2009 Introduction. Fabry disease is a rare metabolic disorder caused by the genetic deficiency of the lysosomal hydrolase alpha-galactosidase A, located on chromosome X.
Chan, KH +8 more
core +1 more source
Anderson-Fabry disease in heart failure [PDF]
Biophysical Reviews, 2018 Anderson-Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene that result in deficiency of the enzyme alpha-galactosidase A. The worldwide incidence of Fabry's disease is reported to be in the range of 1 in 40,000-117,000, although this value may be a significant underestimate given under recognition of symptoms ...
M. M. Akhtar, P. M. Elliott
openaire +3 more sources
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
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