Results 71 to 80 of about 10,281 (167)
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
No Difference in Health Related Quality of Life Between Therapeutic Options for Type 1 Gaucher Disease [PDF]
, 2016 Type 1 Gaucher disease (GD) is the most common lysosomal storage disorder. Previously, treatment for GD was limited to intravenous enzyme replacement therapy (ERT).
Wagner, Victoria
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
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
Monaldi Archives for Chest DiseaseWe presented a case of a 49-year-old presenting with atypical chest pain and hypertrophic phenotype cardiomyopathy without coronary artery disease.
Marzia Testa +4 more
doaj +1 more source
A consensus statement by the Society for Cardiovascular Magnetic Resonance (SCMR) endorsed by the European Association for Cardiovascular Imaging (EACVI) [PDF]
, 2017 Parametric mapping techniques provide a non-invasive tool for quantifying tissue alterations in myocardial disease in those eligible for cardiovascular magnetic resonance (CMR).
Ferreira, Vanessa M. +9 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
Guidelines for diagnosis, monitoring and treatment of Fabry disease. [PDF]
, 2013 La enfermedad de Fabry es un trastorno de almacenamiento lisosomal hereditario ligado al cromosoma X, ocasionado por el déficit de la enzima alfa galactosidasa A.
Amartino, Hernan +28 more
core
Long-term outcomes with agalsidase alfa enzyme replacement therapy: Analysis using deconstructed composite events [PDF]
, 2017 This is a retrospective analysis of Fabry Outcome Survey data from children/adults (n = 677) receiving agalsidase alfa enzyme replacement therapy for a median of 3 years, examining cerebrovascular, cardiac, and renal morbidity endpoints separately ...
Beck, Michael +7 more
core +4 more sources
Molecular Genetics &Genomic Medicine, Volume 12, Issue 12, December 2024.The genotype and phenotype of Mexican patients with Fabry disease (FD) are similar to other populations. Atypical phenotype of FD, such as the one associated with the novel variant c.122C>G, can be a diagnostic challenge, as it can be mixed up with multiple sclerosis.
Tamara N. Kimball +5 more
wiley +1 more source