Results 141 to 150 of about 5,162 (179)

Lyso-Gb3 in a Fabry pediatric cohort diagnosed by newborn screening. [PDF]

Genet Med Open
Burlina AP, Gragnaniello V, Edini C, Salviati L, Polo G, Porcù E, Meloni N, Cazzorla C, Germain DP, Burlina AB.   +9 more
europepmc   +1 more source

Systemic metabolic reprogramming and microbial dysbiosis in Fabry disease: Multi-omics mechanisms and implications for drug development. [PDF]

Front Pharmacol
Gómez-Cebrián N, Trull MC, Gras-Colomer E, Edo Solsona MD, Poveda Andrés JL, Puchades-Carrasco L.   +5 more
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

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

Synthesis and In Vivo Immunological Evaluation of Novel Saponin-Antigen Conjugates Incorporating Tumor-Associated Carbohydrate and Peptide Epitopes. [PDF]

Chemistry
Fuentes R, Tonon-Baschirotto P, Aguinagalde L, Fernández-Tejada A.   +3 more
europepmc   +1 more source

Clinical manifestations, diagnosis, and management of renal involvement in Fabry disease. [PDF]

Ren Fail
Guo W, Bi J, Ji P, Xie Y.
europepmc   +1 more source

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Expression of the glycolipid globotriaosylceramide (Gb3) in testicular carcinoma in situ

Virchows Archiv Fur Pathologische Anatomie Und Physiologie Und Fur Klinische Medizin, 1995
Changes in the cell membrane glycolipid composition and metabolism are frequently associated with carcinogenesis. The accumulation of globo-series glycolipids is the most notable change of the germ cell glycolipid composition observed in testicular tumours.
Joëlle Wiels, Niels Erik Skakkebaek, E Rajpert-De Meyts   +2 more
exaly   +3 more sources

Interfering parameters in the determination of urinary globotriaosylceramide (Gb3) in patients with chronic kidney disease

Journal of Nephrology, 2015
Globotriaosylceramide (Gb3, CD77) represents a pivotal part of the cell membrane. Measuring the urinary Gb3 content can be used to screen patients with chronic kidney disease (CKD) for Fabry disease, a disorder caused by hampered Gb3 degradation. However, little is known about factors influencing urinary Gb3 excretion other than Fabry disease.
Günter Fauler, Gere Sunder-Plassmann, Martina Gaggl   +2 more
exaly   +3 more sources

Evaluation of the urinary globotriaosylceramide (Gb3) assay by tandem mass spectrometry

Molecular and Cellular Toxicology, 2010
Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from a deficiency of α-galactosidase A, which leads to the progressive accumulation of one biomarker, globotriaosylceramide (Gb3), prominently elevated in the urine of affected patients.
Soo-Youn Lee, Hyung Doo Park, Dong-Kyu Jin   +2 more
exaly   +2 more sources

Self-assembled monolayers of globotriaosylceramide (Gb3) mimics: surface-specific affinity with shiga toxins

Analytical Biochemistry, 2002
Self-assembled monolayers (SAMs) of Gb3 mimics having different lengths of alkyl chains were prepared on gold surfaces, and their interactions with galactose-specific lectin (RCA(120)) and Shiga toxins (Stxs) were investigated by a quartz crystal microbalance (QCM) in aqueous solutions. Their interaction with RCA(120) was enhanced owing to the "cluster
Yoshiko Miura, Hirofumi Dohi, Kazukiyo Kobayashi   +2 more
exaly   +3 more sources