Results 81 to 90 of about 10,310 (200)

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

Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factors [PDF]

, 2017
Despite enzyme replacement therapy, disease progression is observed in patients with Fabry disease. Identification of factors that predict disease progression is needed to refine guidelines on initiation and cessation of enzyme replacement therapy.
Arends, M, Biegstraaten, M, Elliott, PM, Hollak, CEM, Hughes, DA, Mehta, A, Oder, D, van Kuilenburg, ABP, Vaz, FM, Wanner, C, Watkinson, OT   +10 more
core   +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

The gatekeeper images in hypertrophic cardiomyopathy: the role of native T1 mapping in Anderson-Fabry disease

Monaldi Archives for Chest Disease
We presented a case of a 49-year-old presenting with atypical chest pain and hypertrophic phenotype cardiomyopathy without coronary artery disease.
Marzia Testa, Eleonora Indolfi, Guido Pastorini, Enrica Conte, Mauro Feola   +4 more
doaj   +1 more source

Genotype–Phenotype Spectrum of 52 Mexican Patients With Fabry Disease: A Novel GLA Variant With Atypical Phenotype

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, Pamela Rivero‐García, Eduardo R. Argaiz, Jorge Eduardo Gaytan‐Arocha, Norma Ofelia Uribe Uribe, Juan José Morales Suárez   +5 more
wiley   +1 more source

Relationship between MRI Derived Right Ventricular Mass and Left Ventricular Involvement in Patients with Anderson-Fabry Disease [PDF]

, 2015
Poster ...
Calleja, A, Crean, A, Deva, DP, Gruner, C, Iwanochko, RM, Li, Q, Ng, MY, Thavendiranathan, P   +7 more
core   +2 more sources

Reshuffling of Azorean Coastal Marine Biodiversity Amid Climate Change

Journal of Biogeography, Volume 51, Issue 12, Page 2546-2555, December 2024.
ABSTRACT Aim Climate change poses a challenge to the Azores' biodiversity, with consequences that remain unexplored. To shed light on the potential impacts of climate change, we have developed a large ensemble of species distribution models (SDMs) for species found in the coastal marine environments and examined their spatiotemporal turnover and ...
Juan David González‐Trujillo, Babak Naimi, Jorge Assis, Miguel B. Araújo   +3 more
wiley   +1 more source

Is it Fabry disease? Diagnostic and follow-up approach [PDF]

, 2016
A doença de Anderson-Fabry (DAF) é uma doença sistémica de sobrecarga lisossomal causada por mutações patogénicas do gene GLA (cromossoma X) que condicionam diminuição ou ausência α-galactosidase A e acumulação de globotriaosilceramida (Gb3) e outros ...
Aguiar, Patricio, Beirao, Idalina, Cabrita, Ana, Gomes, Ana Marta, Silva, Fernando, Torres, Marcia   +5 more
core   +2 more sources

Gene Therapy of Anderson-Fabry Disease

Current Gene Therapy, 2019

Antonino, Tuttolomondo, Irene, Simonetta, Antonio, Pinto   +2 more
openaire   +2 more sources

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