Results 181 to 190 of about 60,446 (292)

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

Tri‐Parametric Assessment of α‐Galactosidase A Activity, lysoGb3 and X‐Inactivation Aids Genotype‐Phenotype Categorization of Fabry Disease Female Patients

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Fabry disease (FD, OMIM 301500) is an X‐linked lysosomal storage disorder caused by deficient activity of lysosomal alpha‐galactosidase A (AGAL, E.C. 3.2.1.22) due to pathogenic variants in the GLA gene (HGNC:4296, Xq22.1). Plasmatic deacylated globotriaosylceramide (lysoGb3) is elevated in FD patients as a reflection of lysosomal accumulation
Ladislav Kuchar, Lenka Dvorakova, Linda Berna, Martin Reboun, Petra Slavikova, Radovan Bakalar, Jana Ledvinova, Helena Poupetova, Petr Ruzicka, Asfaw Befekadu, Gabriela Dostalova, Stella Reichmannova, Ales Linhart, Jakub Sikora   +13 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

Optical Kerr Gating as a Strategy for Noise Reduction in Femtosecond Stimulated Raman Spectroscopy

Journal of Raman Spectroscopy, Volume 57, Issue 7, Page 1185-1196, July 2026.
We report an experimental approach, where an Optical Kerr gate is incorporated with Femtosecond Stimulated Raman Spectrometry (FSRS). The gate functions as a temporal filter that preferentially suppresses the FSRS inherent background. FSRS spectra are reported with the Kerr‐gated methodology with significantly improved SNR compared to the conventional ...
Spyridon Kaziannis, Lazaros Varvarezos, Sotiris Danakas, Elissavet Karkadaki, Cesar Bernando, Miroslav Kloz   +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

Hörvermögen bei Kindern mit M. Fabry

, 2004
M. Fabry zählt zu den lysosomalen Speicherkrankheiten und beruht auf einem Mangel an alpha-Galaktosidase A. Durch Anhäufung von Glykosphingolipiden kommt es zu einer Schädigung der renalen Epithelzellen, der Myokardzellen, der Neuronen sowie der glatten ...
Keilmann, A, Limberger, A
core  

Structural Properties and Reflectivity Patterns of Precipitation Systems Linked to Post‐Fire Debris Flows in California

Meteorological Applications, Volume 33, Issue 4, July/August 2026.
A radar‐based tracking algorithm analyzed Precipitation Systems (PS) over burned areas. At estimated debris flow timing, warmer‐season systems were smaller, slower, and more circular with localized high reflectivity (> 45 dBZ), while cooler‐season systems were larger, faster, and elongated with widespread moderate reflectivity (25–45 dBZ).
Silvana Castillo‐Guerra, Charles Jones, Leila M. V. Carvalho   +2 more
wiley   +1 more source

Exploiting Dimensionality in Hybrid Metal Halides: Design Strategies, Structure–Property Relationships, Optoelectronic Applications, and Future Perspectives

Small Structures, Volume 7, Issue 7, July 2026.
This review presents a unified structural classification for hybrid metal halides from 3D to 0D. It summarizes dimensional engineering strategies and dimension‐dependent structure–property relationships, offering a systematic framework to guide the design and development of high‐performance low‐dimensional optoelectronic materials.
Ying Liu, Xingyao Zhao, Hongyu Ju, Bin–Bin Cui   +3 more
wiley   +1 more source

A mulberry in female hypertrophic cardiomyopathy. [PDF]

Oxf Med Case Reports
Imataki O, Maekawa K, Tamura M, Kitanaka A.   +3 more
europepmc   +1 more source

The State Itself as a Vulnerable Subject? Existential Resilience under International Law

The Modern Law Review, Volume 89, Issue 4, Page 531-561, July 2026.
This paper proposes a new framework for analysis of the law governing State continuity, with particular reference to Small Island Developing States (SIDS) threatened with legal extinction as a result of rising sea‐levels. Prevailing wisdom suggests that if States were to lose their inhabitable land or permanently resident populations, their status ...
Alex Green (文浩航)
wiley   +1 more source