[HTML][HTML] Fabry Disease in women: Genetic basis, available biomarkers, and clinical manifestations
Fabry Disease (FD) is a rare lysosomal storage disorder caused by mutations in the GLA
gene on the X chromosome, leading to a deficiency in α-galactosidase A (AGAL) enzyme …
gene on the X chromosome, leading to a deficiency in α-galactosidase A (AGAL) enzyme …
[HTML][HTML] Dapaglifozin on albuminuria in chronic kidney disease patients with Fabry disease: the DEFY study design and protocol
Y Battaglia, F Bulighin, L Zerbinati, N Vitturi… - Journal of Clinical …, 2023 - mdpi.com
Fabry disease (FD) is a rare genetic disorder caused by a deficiency in the α-galactosidase
A enzyme, which results in the globotriaosylceramide accumulation in many organs …
A enzyme, which results in the globotriaosylceramide accumulation in many organs …
Extrarenal manifestations in inherited kidney diseases
J Hoefele, J Eble, T Hermle, M Wuttke… - Nephrology Dialysis …, 2024 - academic.oup.com
Monogenic kidney diseases result from an abundance of potential genes carrying
pathogenic variants. These conditions are primarily recognized for manifesting as kidney …
pathogenic variants. These conditions are primarily recognized for manifesting as kidney …
[HTML][HTML] Diagnosis of Fabry Disease Using Alpha-Galactosidase A Activity or LysoGb3 in Blood Fails to Identify Up to Two Thirds of Female Patients
G Duro, M Anania, C Zizzo, D Francofonte… - International Journal of …, 2024 - mdpi.com
Anderson–Fabry disease is a lysosomal storage disorder caused by mutations in the GLA
gene, which encodes the enzyme α-galactosidase A. The GLA gene is located on the X …
gene, which encodes the enzyme α-galactosidase A. The GLA gene is located on the X …
[HTML][HTML] Evaluating the Metabolic Basis of α-Gal A mRNA Therapy for Fabry Disease
Z Zhang, Q Liu, Z Deng, J Liu, S Li, M Hong, Y Peng - Biology, 2024 - mdpi.com
Simple Summary Although mRNA injection-based protein supplementation has emerged as
a feasible strategy for treating Fabry disease, whether the administration of lipid nanoparticle …
a feasible strategy for treating Fabry disease, whether the administration of lipid nanoparticle …
[HTML][HTML] “Every Cloud Has a Silver Lining”: How Three Rare Diseases Defend Themselves from COVID-19 and What We Have Learnt from It
M Cacciapuoti, I Caputo, LF Stefanelli, PA Davis… - Clinics and …, 2024 - mdpi.com
The process of SARS-CoV-2 infection, responsible for the COVID-19 pandemic, is carried
out through different steps, with the interaction between ACE2 and Spike protein (S) being …
out through different steps, with the interaction between ACE2 and Spike protein (S) being …
[HTML][HTML] Neuropathy and pain in Fabry disease
VK Medala, N Üçeyler - Rare Disease and Orphan Drugs Journal, 2024 - oaepublish.com
Fabry disease (FD) is a multiorgan lysosomal storage disorder caused by mutations in the
alfa-galactosidase A (GLA) gene. Pathogenic GLA mutations lead to impaired or even lost …
alfa-galactosidase A (GLA) gene. Pathogenic GLA mutations lead to impaired or even lost …
[HTML][HTML] Fabry nephropathy: a treatable cause of chronic kidney disease
ML West, L Geldenhuys, DG Bichet - Rare Disease and Orphan …, 2024 - oaepublish.com
Fabry disease is a rare X-linked inborn error of metabolism that has a high prevalence of
chronic kidney disease (CKD) and renal failure. It is due to the deficiency of the α …
chronic kidney disease (CKD) and renal failure. It is due to the deficiency of the α …
[HTML][HTML] A Case Series of Disproportionate Elevations of Cardiac Troponin and Macrotroponin in Fabry Disease
Y Moussa, C Suthaharen, K Devine… - Journal of Inborn …, 2024 - SciELO Brasil
Fabry disease is a rare X-linked lysosomal storage disorder that causes progressive cellular
accumulation of glycosphingolipids, leading to various end-organ manifestations such as …
accumulation of glycosphingolipids, leading to various end-organ manifestations such as …
Impaired ACE2 glycosylation and protease activity lowers COVID-19 susceptibility in Gitelman's and Bartter's syndromes
L Sgarabotto - 2024 - tesidottorato.depositolegale.it
Abstract Introduction: Gitelman's and Bartter's syndromes (GS/BS) are two rare genetic
tubulopathies which present with metabolic alkalosis and increased ACE2 levels. ACE2 …
tubulopathies which present with metabolic alkalosis and increased ACE2 levels. ACE2 …