Results 101 to 110 of about 1,271 (166)

Tools and reagents to study polysaccharide and glycolipid matabolism [PDF]

, 2011
Carbohydrate processing enzymes are essential for a plethora of biological functions and processes. This thesis has focussed on the development of synthetic procedures for the synthesis of molecules that have the potential of being used for either the ...
Gold, K.H.
core  

Genome sequencing reveals the prevalence of Fabry disease-causing variants in Japan: Evidence from the Tohoku Medical Megabank. [PDF]

Genet Med Open
Susukita K, Nochioka K, Takase M, Yamamoto S, Kumada K, Suzuki H, Ohneda K, Noguchi K, Izumi Y, Ogishima S, Nakaya N, Eto Y, Hozawa A, Yasuda S.   +13 more
europepmc   +1 more source

Genetic Modifiers of Cardiac Remodeling Severity in IVS4+919G>A-Associated Fabry Cardiomyopathy. [PDF]

Int J Mol Sci
Sung KT, Hsu CY, Lu YH, Hung CL, Niu DM.
europepmc   +1 more source

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

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.
山下, 哲史
core  

Impaired motor unit profile in Fabry disease: A quantitative electrophysiological study. [PDF]

Clin Neurophysiol Pract
Gunduz A, Akkan Suzan A, Dinçer MT, Özcan ŞG, Seyahi N.   +4 more
europepmc   +1 more source

From Shoulder to Heart: Acute Shoulder Pain Leads to a Diagnosis of Fabry Disease. [PDF]

JACC Case Rep
Kalaria A, Farooq W, Kolupoti A, Meng J, Kim AS.   +4 more
europepmc   +1 more source

Bridging Biochemical and Clinical Disease Burden in Fabry Disease: A Comparative Analysis of Lyso-Gb3, MSSI, DS3, and FASTEX. [PDF]

Int J Mol Sci
Ozturk S, Akyol EMB.
europepmc   +1 more source

Cardiological aspects of Fabry disease: from diagnosis to therapeutic efficacy assessment. [PDF]

Orphanet J Rare Dis
Graziani F, Biagini E, Argirò A, Citro R, Iaccarino G, Lanzillo C, Monte I, Pieruzzi F, Zuchi C, Pieroni M.   +9 more
europepmc   +1 more source

A multigenerational fabry disease case caused by a <i>de novo</i> GLA mutation: Diagnostic delay, phenotypic variability, and the impact of early detection. [PDF]

J Family Med Prim Care
Topsakal S, Tekin I, Tekin S, Kaya H, Çakmak V, Onay H.   +5 more
europepmc   +1 more source

Evaluating the relationship between antidrug antibodies and efficacy and safety outcomes in patients with Fabry disease receiving enzyme replacement therapy: a systematic literature review. [PDF]

Orphanet J Rare Dis
Aguiar P, Bernat JA, Hughes D.
europepmc   +1 more source