Results 101 to 110 of about 31,122 (181)

Human Gb3/CD77 synthase: a glycosyltransferase at the crossroads of immunohematology, toxicology, and cancer research

Cellular & Molecular Biology Letters
Human Gb3/CD77 synthase (α1,4-galactosyltransferase, P1/Pk synthase, UDP-galactose: β-d-galactosyl-β1-R 4-α-d-galactosyltransferase, EC 2.4.1.228) forms Galα1 → 4Gal structures on glycosphingolipids and glycoproteins.
Katarzyna Szymczak-Kulus, Marcin Czerwinski, Radoslaw Kaczmarek   +2 more
doaj   +1 more source

Anderson-Fabry disease. [PDF]

BMJ, 1988
S H, Morgan, M A, Crawfurd
openaire   +2 more sources

Corneal confocal microscopy detects neuropathy in patients with Fabry disease

, 2008
Purpose: Neuropathy is a cause of significant disability in\ud patients with Fabry disease, yet its diagnosis is difficult. We have compared the novel non-invasive techniques of corneal confocal microscopy (CCM) and non-contact corneal aesthesiometry ...
Marshall, Andrew G., Efron, Nathan, Tavakoli, Mitra, Malik, Rayaz A., Waldek, Stephen   +4 more
core   +1 more source

Renal ultrastructural findings in Anderson-Fabry disease

, 2002
Anderson-Fabry disease (AFd) is caused by an X-linked inborn error in the glycosphingoLipid metabolic pathway due to an enzymatic defect in a lysosomal hydrolase: alpha-galactosidase A.
F. Giordano, A. Tosoni, M. Meroni, P. Gatti, G. Calconi, F. Pallotti, G. Battini, G. Bertolone, A. Maglio, A. Sessa, M. Nebuloni   +10 more
core  

Multidisciplinary approach in the differential diagnosis of left ventricular hypertrophy: a case report

Кардиоваскулярная терапия и профилактика
Left ventricular (LV) hypertrophy implies structural cardiac changes and, as a consequence, an increase in myocardial mass. Currently, there are many causes of this condition as follows: hypertension, aortic stenosis, hypertrophic cardiomyopathy ...
M. M. Kudryavtseva, E. V. Ryzhkova, O. V. Kulikova, E. A. Mershina, V. E. Sinitsyn, O. M. Drapkina, R. P. Myasnikov   +6 more
doaj   +1 more source

Molecular Pathogenesis of Central and Peripheral Nervous System Complications in Anderson-Fabry Disease. [PDF]

Int J Mol Sci, 2023
Tuttolomondo A, Baglio I, Riolo R, Todaro F, Parrinello G, Miceli S, Simonetta I.   +6 more
europepmc   +1 more source

Enzyme replacement therapy for Anderson-Fabry disease

, 2016
Background: Anderson-Fabry disease is an X-linked defect of glycosphingolipid metabolism. Progressive renal insufficiency is a major source of morbidity, additional complications result from cardio- and cerebro-vascular involvement.
Carvalho, Raíssa Pierri [UNESP], Barreto, Fellype C., Pasqual Barretti, Barretti, Pasqual [UNESP], Bazan, Rodrigo [UNESP], Regina El Dib, Fellype C Barreto, El Dib, Regina [UNESP], Gomaa, Huda, Camargo, Samira E. [UNESP], Huda Gomaa, Rodrigo Bazan, Raíssa Pierri Carvalho, Samira E Camargo   +13 more
core   +1 more source

Right Ventricular Myocardial Involvement in Anderson-Fabry Disease at Diagnosis: Evaluation with Three-Dimensional Strain Imaging. [PDF]

Life (Basel), 2023
Pucci M, Iadevaia V, Gammaldi V, Iervolino A, Capece LM, Sciascia D, Cuomo V, Iacono M, Paoletta D, Santoro C, Esposito R.   +10 more
europepmc   +1 more source

Anderson-Fabry disease cardiomyopathy: an update on epidemiology, diagnostic approach, management and monitoring strategies. [PDF]

Front Cardiovasc Med, 2023
Averbuch T, White JA, Fine NM.
europepmc   +1 more source

Electrocardiogram analysis in Anderson-Fabry disease: a valuable tool for progressive phenotypic expression tracking. [PDF]

Front Cardiovasc Med, 2023
Parisi V, Baldassarre R, Ferrara V, Ditaranto R, Barlocco F, Lillo R, Re F, Marchi G, Chiti C, Di Nicola F, Catalano C, Barile L, Schiavo MA, Ponziani A, Saturi G, Caponetti AG, Berardini A, Graziosi M, Pasquale F, Salamon I, Ferracin M, Nardi E, Capelli I, Girelli D, Gimeno Blanes JR, Biffi M, Galiè N, Olivotto I, Graziani F, Biagini E.   +29 more
europepmc   +1 more source