Results 71 to 80 of about 1,757 (183)

The subaortic tendon as a mimic of hypertrophic cardiomyopathy

open access: yesCardiovascular Ultrasound, 2009
Originally described by Brock and Teare, today hypertrophic cardiomyopathy is clinically defined as left (or right) ventricular hypertrophy without a known cardiac or systemic cause, such as systemic hypertension, Fabry's disease or aortic stenosis. Also
Ker James
doaj   +1 more source

Exploring the principles of logotherapy in genetic counseling: Enhancing decision‐making, adaptation, and justice

open access: yesJournal of Genetic Counseling, Volume 35, Issue 1, February 2026.
Abstract Logotherapy is a psychological approach originated by Viktor Frankl, shaped by the thesis that meaning can be discovered even in the most tragic of human circumstances, and through a human's will‐to‐meaning, that individuals have both freedom and responsibility to discover meanings in the moment and ultimate meanings from their unique ...
Nour Chanouha   +5 more
wiley   +1 more source

Come from away: Reconstructing a long‐range migratory flight of spruce budworm moths to Newfoundland, Canada Venues de loin : reconstitution d'un vol migratoire de longue distance de tordeuses des bourgeons de l'épinette vers Terre‐Neuve, au Canada

open access: yesEcological 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

Isolated angiokeratomas of the tongue: A rare entity

open access: yesIndian Journal of Dental Research, 2019
Angiokeratomas consist of ectasias of dermal capillaries associated with an acanthotic and hyperkeratotic overlying epidermis. These dark red-to-purple, papular vascular anomalies can vary considerably in size, depth, and location.
Rizwan Hamid   +4 more
doaj   +1 more source

Biochemical and clinical analysis of accumulated glycolipids in symptomatic heterozygotes of angiokeratoma corporis diffusum (Fabry's disease) in comparison with hemizygotes.

open access: yesJournal of Lipid Research, 1990
Angiokeratoma corporis diffusum (Fabry's disease) is an X-linked disorder of glycosphingolipid catabolism. Heterozygous females, although usually asymptomatic, are occasionally as severely afflicted as hemizygous males; recently we identified a ...
I Hozumi   +3 more
doaj   +1 more source

Cardiovascular magnetic resonance in hypertrophic cardiomyopathy and infiltrative cardiomyopathy

open access: yesSouth African Journal of Radiology, 2016
Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease. Cardiac imaging plays a key role in the diagnosis and management, with cardiovascular magnetic resonance (CMR) an important modality.
Rebecca Schofield   +3 more
doaj   +1 more source

Study on a family with anderson--Fabry's disease and associated familial spastic paraplegia. [PDF]

open access: bronze, 1976
Alkis Pierides   +6 more
openalex   +1 more source

Functional evaluation of a novel GLA causative mutation in Fabry disease

open access: yesMolecular Genetics & Genomic Medicine, 2019
Background Fabry disease (FD), a rare X‐linked α‐galactosidase A (GLA) deficiency, resulting in progressive lysosomal accumulation of globotriaosylceramide in a variety of cell types. More and more disease‐causing mutations in GLA have been identified in
Ping Li   +8 more
doaj   +1 more source

Recommendation for diagnosis and treatment of fabry’s disease in Slovenia

open access: yesZdravniški Vestnik, 2006
Background: Fabry disease is a rare X-chromosome linked disease. Due to gene mutation, activity of enzyme α galactosidase A is lowered or absent and sphingolipids are deposited in different organ cells.
Bojan Vujkovac   +9 more
doaj  

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