Results 91 to 100 of about 57,841 (208)
Indian Journal of Dermatology, 2001 A case of Anderson â€" Fabryâ€s disease presenting with cutaneous, ophthalmic and cardiological manifestations leading to death at an uncharacteristically early age is reported.
Coondoo Arijit +2 more
doaj
Fabry disease: recent advances in pathology, diagnosis, treatment and monitoring
Orphanet Journal of Rare Diseases, 2009 Background In Fabry disease (α-galactosidase A deficiency) accumulation of Globotriaosylceramide (Gb3) leads to progressive organ failure and premature death.
Hoffmann Björn
doaj +1 more source
Perinatal Gene Transfer to the Liver [PDF]
, 2011 The liver acts as a host to many functions hence raising the possibility that any one may be compromised by a single gene defect. Inherited or de novo mutations in these genes may result in relatively mild diseases or be so devastating that death within
Buckley, SM +6 more
core +1 more source
Misdiagnosis of familial Mediterranean fever in patients with Anderson-Fabry disease [PDF]
, 2013 Fabry disease (FD) is an underdiagnosed pathology due to its symptomatology that overlaps with various systemic and rheumatic disorders, including familial Mediterranean fever (FMF).
A.l.b.e.g.g.i.a.n.i. G +8 more
core
Fabry disease: clinical and genotypic aspects of three cases in first degree relatives [PDF]
, 2014 Fabry disease is an X-linked, lysosomal storage disease caused by the inherited deficiency of the enzyme α-galactosidase A. The diagnosis is usually late, with renal, cardiovascular and/or cerebral complications that reduce life expectancy ...
Badiz, Thais Cardoso De Mello Tucunduva +3 more
core +2 more sources
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
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
Anderson-Fabry, the histrionic disease: from genetics to clinical management
Cardiogenetics, 2013 Anderson-Fabry disease (AFD) is an Xlinked lysosomal storage disorder of glycosphingolipid catabolism, due to deficiency or absence of a galactosidase A (α-gal A) enzyme. The disease may affect males and females, the latter with an average 10 years
Franco Cecchi +2 more
doaj +1 more source
Phenotype, disease severity and pain are major determinants of quality of life in Fabry disease: results from a large multicenter cohort study. [PDF]
, 2017 Quality of life (QoL) is decreased in patients with Fabry disease (FD). To improve QoL, it is important to understand the influence of FD related characteristics, symptoms, and complications.
Arends, M +5 more
core +2 more sources
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