Results 71 to 80 of about 31,072 (153)

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, Gnarra,M, Aspite,N, Cardinali,G, Zampetti,A, BONGIORNO, Maria Rita, Manco,S, Morrone,A, Feliciani C., Linder,D, Parini,R, Antuzzi,D, O.r.t.e.u.,.C. H., Kovacs,D   +13 more
core   +2 more sources

Clinical and Radiographic Features of Mandibular Third Molar Gemination: A Case Report and Literature Review

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, Giorgia Creminelli, Pierluigi Guerrieri, Andrea Scribante, Danilo Fraticelli, Luca Creminelli, Asja Celebic   +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

Chronic Obstructive Pulmonary Disease: The Role of Healthy and Unhealthy Dietary Patterns—A Comprehensive Review

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, Kimia Mohammadhasani, Zahra Dehnavi, Zahra Khorasanchi   +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, Crea, Filippo, Lillo, Rosa, Panaioli, Elena, Leccisotti, Lucia, Manna, Raffaele, Spagnoletti, Gionata, Graziani, Francesca, Marano, Riccardo   +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., SALVIATI, Alessandro, on behalf of Fabry Delphi working group, as a. group member, Degennaro E., Parini R.   +5 more
core   +2 more sources

DIAGNOSIS OF ANDERSON-FABRY DISEASE

, 2018
Anderson-Fabryjeva bolest je nakon Gaucherove bolesti najčešća lizosomalna bolest nakupljanja. Bolest se nasljeđuje X-vezano recesivno. Karakterizirana je smanjenom aktivnošću enzimaIntroduction: Anderson- Fabry disease is one of the most common ...
JURAŠIĆ, MILJENKA JELENA, NEVENA GRBIĆ, LUCIJA ZADRO MATOVINA, IRIS ZAVOREO, ZADRO MATOVINA, LUCIJA, BAŠIĆ KES, VANJA, GRBIĆ, NEVENA, VANJA BAŠIĆ KES, MILJENKA JELENA JURAŠIĆ, ZAVOREO, IRIS   +9 more
core  

Cardiopulmonary determinants of reduced exercise tolerance in Fabry disease

Frontiers in Cardiovascular Medicine
Fabry disease (FD), also known as Anderson-Fabry disease, is a hereditary disorder of glycosphingolipid metabolism, caused by a deficiency of the lysosomal alpha-galactosidase A enzyme.
Oriana De Marco, Jessica Gambardella, Jessica Gambardella, Antonio Bianco, Antonella Fiordelisi, Federica Andrea Cerasuolo, Antonietta Buonaiuto, Roberta Avvisato, Ivana Capuano, Maria Amicone, Teodolinda Di Risi, Teodolinda Di Risi, Eleonora Riccio, Letizia Spinelli, Antonio Pisani, Antonio Pisani, Guido Iaccarino, Guido Iaccarino, Daniela Sorriento, Daniela Sorriento   +19 more
doaj   +1 more source

ANDERSON-FABRY DISEASE AND RENAL TRANSPLANTATION

, 2011
Anderson-Fabrijeva bolest (AFB) je rijetka bolest nakupljanja koja se prenosi putem X kromosoma, a dovodi do progresivnog nakupljanja globotriaozilceramida u visceralnim organima i endotelu krvnih žila. Bolest prevenstveno zahvaća muškarce.
KAŠTELAN, ŽELJKO, TVRTKO HUDOLIN, NIKOLINA BAŠIĆ-JUKIĆ, PETAR KES, INES MESAR, BAŠIĆ-JUKIĆ, NIKOLINA, ŽELJKO KAŠTELAN, MESAR, INES, HUDOLIN, TVRTKO, MARIJANA ĆORIĆ, KES, PETAR, ĆORIĆ, MARIJANA   +11 more
core  

Considerations for Home-Based Treatment of Fabry Disease in Poland during the COVID-19 Pandemic and Beyond

, 2021
Current therapy for Anderson–Fabry disease in Poland includes hospital or clinic-based intravenous enzyme replacement therapy with recombinant agalsidase alpha or beta, or oral pharmacological chaperone therapy with migalastat.
Stanisława Bazan-Socha, Oko-Sarnowska, Zofia, Kłopotowski, Mariusz, Beata Błażejewska-Hyżorek, Błażejewska-Hyżorek, Beata, Mariusz Kłopotowski, Bazan-Socha, Stanisława, Krzysztof Pawlaczyk, Pawlaczyk, Krzysztof, Jarosław Sławek, Andrzej Oko, Kusztal, Mariusz, Nowicki, Michał, Mariusz Kusztal, Oko, Andrzej, Michał Nowicki, Sławek, Jarosław, Zofia Oko-Sarnowska   +17 more
core   +1 more source