Results 61 to 70 of about 10,310 (200)
Female Fabry disease patients and X-chromosome inactivation [PDF]
, 2018 Fabry disease is an X-linked inherited lysosomal storage disorder caused by mutations in the gene encoding α- galactosidase A (GLA). Once it was thought to affect only hemizygous males.
Gabig-Cimińska, Magdalena +7 more
core +1 more source
The Role of Genetics in Stroke Risk and Outcome: A Review of Current Evidence
Brain and Behavior, Volume 15, Issue 10, October 2025.This study delineates the multiple pathways leading to stroke, encompassing genetic risk factors such as lipid/cholesterol metabolism, blood pressure regulation genes, and endothelial dysfunction. The report includes genetic pathways such as Val66Met polymorphism, prothrombin G20210A, interleukin‐6 and tumor necrosis factor gene variant, along with ...
Mega Obukohwo Oyovwi +3 more
wiley +1 more source
MedComm, Volume 6, Issue 10, October 2025.This review summarizes strategies to optimize lipid nanoparticles (LNPs) for improved targeting, endosomal escape, and safety. It highlights mRNA design, alternative delivery systems, and recent therapeutic advances across infectious diseases, cancer, and drug applications.
Xiaochi Li +7 more
wiley +1 more source
A Dose‐Tailored Anti‐Plasma Cell Regimen Lowers the Mortality of Late‐Stage Cardiac Amyloidosis
MedComm, Volume 6, Issue 7, July 2025.The present study was designed to assess the efficacy and safety of a dose‐tailored BD regimen and a dose‐tailored DBD regimen in patients with LCCA at Mayo Stage III. Both the two regimens markedly increased survival rate and time in those patients and the dose‐tailored DBD regimen was superior to the dose‐tailored BD regimen in both efficacy and ...
Yun Ti +8 more
wiley +1 more source
Turkish Journal of Internal Medicine, 2020 Fabry disease, also known as Anderson-Fabry disease, is a X-linked lysosomal storage disease. Alpha-galactosidase A (alpha-Gal A) enzyme deficiency leads globotriaosylceramide (Gb3) accumulation in several cells which causes clinical manifestations of ...
Aysegul Oruc
doaj
A 15-year perspective of the fabry outcome survey [PDF]
, 2016 The Fabry Outcome Survey (FOS) is an international long-term observational registry sponsored by Shire for patients diagnosed with Fabry disease who are receiving or are candidates for therapy with agalsidase alfa (agala).
Beck, M +9 more
core +2 more sources
Cardiac Involvement in Anderson-Fabry Disease [PDF]
Journal of the American Society of Nephrology, 2002 Anderson-Fabry disease results from hereditary deficiency of the lysosomal enzyme -galactosidase A. This disease is marked by progressive intracellular accumulation of globotriaosylceramide (Gb3) and digalactosylceramide, the major glycosphingolipid substrates of -galactosidase A.
Christoph, Kampmann +3 more
openaire +2 more sources
Food Risk Assess Europe, Volume 3, Issue 3, July 2025.Abstract The Scientific Committee of the Spanish Agency for Food Safety and Nutrition (AESAN) has carried out an updated review of the scientific evidence on the influence of climate change on the transmission of foodborne pathogens. This global phenomenon represents an emerging threat to food safety and public health, since alterations in weather ...
Antonio Valero Díaz +6 more
wiley +1 more source
Senza una multidisciplinarietà organizzata
Giornale di Clinica Nefrologia e Dialisi, 2017 non disponibile (aiaf)
Roberto Fanelli +4 more
doaj +1 more source
Cardiomyocyte disintegration during Anderson–Fabry's disease [PDF]
European Heart Journal, 2009 A 65-year-old man was admitted to our hospital because of syncope. On examination he was haemodynamically stable. Laboratory findings revealed positive cardiac enzymes, and Holter registration demonstrated multiple episodes of non-sustained ventricular tachycardia. …
Robert, Dennert +2 more
openaire +2 more sources