Results 61 to 70 of about 1,271 (166)

From Molecule to Meaning: Neuronopathic Biomarkers and Clinical Relevance in GM1

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT GM1 gangliosidosis is a rare, progressively neurodegenerative lysosomal storage disorder characterized by profound central nervous system involvement and substantial clinical heterogeneity. The development of reliable biomarkers is essential for tracking disease progression, stratifying patients, and advancing clinical trial readiness. Primary
Krista Casazza, Roberto Giugliani, Debra S. Regier, Jeanine Jarnes   +3 more
wiley   +1 more source

Correlation analyses: Plasma globotriaosylsphingosine (Lyso-Gb3) and plasma α-Gal A activity for males N215S (blue; n = 13), males non-N215S (orange; n = 9) and females N215S (purple; n = 26), females non-N215S (green; n = 36).

, 2018
Correlation analyses: Plasma globotriaosylsphingosine (Lyso-Gb3) and plasma α-Gal A activity for males N215S (blue; n = 13), males non-N215S (orange; n = 9) and females N215S (purple; n = 26), females non-N215S (green; n = 36).
B. Beaton (5066303), D. A. Hughes (5066294), U. Ramaswami (5066297), A. S. Thomas (5066300), H. Ebrahim (5066309), P. Elliott (1293702), M. Reed (4855099), A. B. Mehta (5066306), L. Lavalle (5066291)   +8 more
core   +1 more source

Long‐term effectiveness and safety outcomes in adults with Fabry disease treated with agalsidase alfa: 20 years of data from the Fabry Outcome Survey

European Journal of Clinical Investigation, Volume 56, Issue 1, January 2026.
Long‐term treatment with agalsidase alfa in 1864 adults with Fabry disease in the Fabry Outcome Survey confirmed previously reported beneficial effects on renal function and cardiomyopathy. Over a median (min, max) of 6.0 (0, 21.6) years of treatment, annualized changes in eGFR remained relatively stable in females and declined slightly in males.
Derralynn A. Hughes, Guillem Pintos‐Morell, Christoph Kampmann, Christina Anagnostopoulou, Jaco Botha, Siddharth Jain, Kathleen Nicholls, Dau‐Ming Niu, Ricardo Reisin, Michael L. West, Jörn Schenk, Uma Ramaswami, Roberto Giugliani   +12 more
wiley   +1 more source

Fabry’s Disease: The Utility of a Multidisciplinary Screening Approach

Life, 2022
(1) Background: As a lysosomal storage disorder, Fabry’s disease (FD) shows variable clinical manifestations. We applied our multidisciplinary approach to identify any organ damage in a sample of adult patients with different pathogenic variants.
Marco Angelo Monte, Massimiliano Veroux, Margherita Stefania Rodolico, Valentina Losi, Luigi Di Pino, Rita Bella, Giuseppe Lanza, Ines Paola Monte   +7 more
doaj   +1 more source

Connecting the Dots: Bridging Microsamples and Conventional Blood Matrices in Metabolic Biomarker Analysis

Analytical Science Advances, Volume 6, Issue 2, December 2025.
ABSTRACT Bridging the gap between microsampling techniques and standard blood matrices presents a groundbreaking opportunity in metabolic biomarker analysis, offering minimally invasive, patient‐centric alternatives to traditional venipuncture. This review presents the current knowledge obtained from the comparison of biomarkers analysis in liquid ...
Marlene Thaitumu, Vasiliki Gkanali, Georgios Theodoridis, Helen Gika   +3 more
wiley   +1 more source

Pulmonary involvement in Fabry disease: effect of plasma globotriaosylsphingosine and time to initiation of enzyme replacement therapy [PDF]

BMJ Open Respiratory Research, 2018
Introduction Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by mutations of GLA gene leading to reduced α-galactosidase activity and resulting in a progressive accumulation of globotriaosylceramide (Gb3) and its deacylated derivative, globotriaosyl-sphingosine (Lyso-Gb3).
Franzen, Daniel, Haile, Sarah R, Kasper, David C, Mechtler, Thomas P, Flammer, Andreas J, Krayenbühl, Pierre A, Nowak, Albina   +6 more
openaire   +3 more sources

Historical Control Analysis Demonstrates Greater Long‐Term Reduction in Plasma Globotriaosylceramide (Gb3) by Venglustat Compared With Placebo or Agalsidase Beta in Male Patients With Classic Fabry Disease

Molecular Genetics &Genomic Medicine, Volume 13, Issue 11, November 2025.
ABSTRACT Purpose To evaluate the disease biomarker response of venglustat in patients with Fabry disease (FD), utilizing data from a single‐arm phase 2 study of venglustat and a placebo‐controlled phase 3 study of agalsidase beta through historical control and case‐matched analyses. Methods Eleven venglustat‐treated male patients with classic FD in the
Dominique P. Germain, Pronabesh DasMahapatra, Shiguang Liu, Patrick Deegan, Alberto Ortiz, Vijay Modur, William R. Wilcox   +6 more
wiley   +1 more source

Plasma globotriaosylsphingosine level as a primary screening target for Fabry disease in patients with left ventricular hypertrophy [PDF]

, 2022
浜松医科大学博士（医学）doctoral医学系研究科Background: Although previous studies have suggested a certain prevalence of Fabry disease (FD) in left ventricular hypertrophy (LVH) patients, the screening of FD is difficult because of its wide-ranging clinical phenotypes. We
山下, 哲史
core  

Stroke in Fabry Disease: Identification of Risk Factors for Stroke in a Large Single‐Centre Cohort

European Journal of Neurology, Volume 32, Issue 11, November 2025.
A retrospective cohort study of 368 adults with Fabry disease in the UK analysed time to stroke over approximately 10 years. It found that concomitant autoimmune disease increased stroke risk, while eGFR > 90 mL/min and the p.N215S genotype were associated with lower risk.
David Moreno‐Martinez, Sara Lucas‐Del‐Pozo, Lucia Lavalle, Uma Ramaswami, Lionel Ginsberg, Guillem Pintos‐Morell, Derralynn A. Hughes   +6 more
wiley   +1 more source

Fabry disease and incidence of cancer

Orphanet Journal of Rare Diseases, 2017
Background Fabry disease is an X-linked lysosomal storage disorder caused by deficient activity of α-galactosidase A and the resulting accumulation of the glycosphingolipid globotriaosylceramide (Gb3) and its derivatives, including ...
Sarah Bird, Efthymios Hadjimichael, Atul Mehta, Uma Ramaswami, Derralynn Hughes   +4 more
doaj   +1 more source