Results 131 to 140 of about 21,730 (244)

Persistent Hematuria and Proteinuria in a Patient with SLE Nephritis. [PDF]

Kidney360
Singh T, Panzer SE, Garg S.
europepmc   +1 more source

Fabry disease in Poland [PDF]

Polish Archives of Internal Medicine, 2018
Bazan-Socha, Stanisława, Kuczia, Paweł, Musiał, Jacek, Błażejewska-Hyżorek, Beata   +3 more
openaire   +4 more sources

Velocity‐Tunable Exciton‐Photon Hybridization in Cathodoluminescence

Advanced Functional Materials, Volume 36, Issue 62, 3 August 2026.
Transition‐radiation resonances in suspended thin crystals hybridise with excitonic transitions under free‐electron excitation. By tuning the electron energy, the photonic resonances are continuously detuned across the exciton states, enabling controllable exciton–photon hybridisation below the diffraction limit without altering the system geometry ...
Sven Ebel, Martin Nørgaard, Christian Nicolaisen Hansen, N. Asger Mortensen, Sergii Morozov   +4 more
wiley   +1 more source

Proxy patients' perceptions of genetic counselor empathy responses. [PDF]

J Community Genet
Bouchard J, MacFarlane I, Veach PM, Baker JA, Redlinger-Grosse K.   +4 more
europepmc   +1 more source

Fabry disease: Enfermedad de fabry

, 2018
RESUMEN La enfermedad de Fabry es una enfermedad de depósito lisosomal causada por la deficiencia de la enzima alfa galactosidasa A, con patrón de herencia ligado al cromosoma X. El cuadro clínico tiene una variedad de síntomas y signos; y se han descrito una variante clínica clásica y variantes clínica no clásica como la renal o cardíaca.
openaire   +1 more source

Myocardial Lipid Metabolism Imbalance: The Pathological Core and Novel Diagnostic‐Therapeutic Directions of Cardiovascular Diseases

Journal of Biochemical and Molecular Toxicology, Volume 40, Issue 8, August 2026.
In cardiac cells, Plin5/AMPK regulate lipid homeostasis; excess CD36‐mediated uptake drives lipotoxicity, mitochondrial dysfunction, and CVDs (e.g., heart failure). Biomarkers (ApoB/ApoA‐1) and therapies (SGLT2 inhibitors) target this cascade. ABSTRACT Cardiac lipid metabolism is fundamental to myocardial energy homeostasis, with fatty acid oxidation ...
Peiyun Xie, Qun Zeng, Hongrui Wang, Meihua She   +3 more
wiley   +1 more source

Neurological management and outcome measures in Fabry disease: consensus statements from the Italian Fabry disease neurological working group. [PDF]

Orphanet J Rare Dis
Mancuso M, Burlina A, Ulivi L, Cocozza S, Bersano A, Cosottini M, Donadio V, Giordano A, Liguori R, Manara R, Pichiecchio A, Romani I, Siniscalchi A, Tenuta M, Cianci V, Tuttolomondo A.   +15 more
europepmc   +1 more source

Repercussions of Diagnostic Delay in Rare Diseases

Journal of Genetic Counseling, Volume 35, Issue 4, August 2026.
ABSTRACT Rare diseases (RDs) are often subject to diagnostic delays due to their low prevalence, clinical variability, and limited professional awareness. This scoping review aimed to map the literature on these delays, examining their clinical, emotional, and socioeconomic consequences.
Luisa Rezende Batista, Luiza Fernandes Valente, Fernando Spina, Davi Said Gonçalves Celso, Israel Gomy, Christiane Mariotini‐Moura   +5 more
wiley   +1 more source

Liver Gene Therapy in Fabry Disease Mice With Low Doses of rAAV2/8 Expressing a Codon-Optimized hGLA cDNA Results in Long-Term Disease Correction. [PDF]

J Inherit Metab Dis
Saxena H, Domenis R, Romano G, Biasizzo J, Ferro M, Ferino D, Vicidomini A, Iaconcig A, Bortolussi G, Zentilin L, Dardis A, Muro AF.   +11 more
europepmc   +1 more source

Inter‐Theta‐Gram Spectroscopy: A General Super‐Spectral‐Resolution Scattering Method Demonstrated on Diamond

Journal of Raman Spectroscopy, Volume 57, Issue 8, Page 1359-1366, August 2026.
Inter‐Theta‐Gram spectroscopy enables super‐spectral‐resolution Raman analysis by jointly reconstructing the excitation laser line and Raman peak during an etalon angle scan, yielding internally referenced Raman shifts. Demonstrated on lab‐grown versus natural diamond, it resolves 0.1–0.2 cm−1 Raman‐shift offsets that are invisible in conventional ...
Yishai Amiel, Romi Nedvedski, Yaakov R. Tischler, Hadass Tischler   +3 more
wiley   +1 more source