Results 71 to 80 of about 31,122 (181)
Clinical prodromes of neurodegeneration in Anderson-Fabry disease [PDF]
, 2015 To estimate the prevalence of prodromal clinical features of neurodegeneration in patients with Anderson-Fabry disease (AFD) in comparison to age-matched ...
Hughes, D +6 more
core
When Should Cardiologists Suspect Anderson-Fabry Disease?
, 2010 Anderson-Fabry disease is a lysosomal storage disorder caused by α-galactosidase defects and progressive intracellular accumulation of globotriaosylceramide. The disease can be specifically treated with enzyme replacement therapy.
Eliana Disabella +21 more
core +1 more source
Otological aspects of Fabry disease in patients with normal hearing [PDF]
, 2019 2019-08We investigated the otological aspects of Fabry disease (FD) in patients with normal hearing. Forty-one patients (21 men, 20 women) with bilaterally normal hearing were recruited, and their otological symptoms and hearing evaluations, which ...
Sone, Michihiko +6 more
core +1 more source
Cutaneous manifestations of Fabry disease: A systematic review
The Journal of Dermatology, Volume 52, Issue 4, Page 571-582, April 2025.Abstract Fabry disease (FD) is a rare X‐linked lysosomal storage disorder resulting in potential debilitating accumulation of glycosphingolipids in organs such as skin, nerves, heart, kidneys, lungs, and the central nervous system. Skin is easily investigated and can guide clinicians to diagnose FD, minimizing delay of enzyme substitution therapy. This
Rami Nabil Al‐Chaer +4 more
wiley +1 more source
Angiokeratoma: decision-making aid for the diagnosis of Fabry disease
, 2012 Isolated angiokeratomas are common benign cutaneous lesions, generally deemed unworthy of further investigation. In contrast, diffuse angiokeratomas should alert the physician to a possible diagnosis of Fabry disease, a rare X-linked lysosomal storage
the Interdisciplinary Study Group on Fabry Disease +13 more
core +2 more sources
Case Reports in Dentistry, Volume 2025, Issue 1, 2025.Introduction: Gemination and fusion are rare developmental anomalies that can present significant diagnostic challenges. Due to the complexity of distinguishing between these conditions, the term “double tooth” is commonly employed in clinical practice.
Matteo Pellegrini +6 more
wiley +1 more source
Integrative Systems Biology Investigation of Fabry Disease
Diseases, 2016 Fabry disease (FD) is a rare X-linked recessive genetic disorder caused by a deficient activity of the lysosomal enzyme alpha-galactosidase A (GLA) and is characterised by intra-lysosomal accumulation of globotriaosylceramide (Gb3).
Marco Fernandes, Holger Husi
doaj +1 more source
Food Science &Nutrition, Volume 12, Issue 12, Page 9875-9892, December 2024.COPD is a progressive disease affecting many people worldwide. Evidence suggests that environmental factors play a vital role in the development of COPD. Proposing a nutritious diet that enhances pulmonary function could potentially be an effective approach for preventing and managing COPD.
Mohammad Vahedi Fard +3 more
wiley +1 more source
Massive Coronary Microvascular Dysfunction in Severe Anderson-Fabry Disease Cardiomyopathy
, 2019 Anderson-Fabry disease (AFD) is a rare genetic lysosomal storage disorder caused by deficient activity of the enzyme α-galactosidase A, leading to progressive intracellular accumulation of neutral glycosphingolipids in different organs, including the ...
Bruno, Isabella +8 more
core +1 more source
Delphi consensus on the current clinical and therapeutic knowledge on Anderson-Fabry disease.
, 2014 Background: Management of Anderson–Fabry disease (AFD) is contentious, particularly regarding enzyme replacement therapy (ERT). We report results of a Delphi consensus panel on AFD management.
Concolino D. +5 more
core +2 more sources