Results 21 to 30 of about 526,926 (248)

The coincidence of IgA nephropathy and Fabry disease

BMC Nephrology, 2013
Background IgA nephropathy (IgAN) is the most common glomerulonephritis, which may also coexist with other diseases. We present two patients with an unusual coincidence of IgAN and Fabry disease (FD). Case presentation A 26 year-old man underwent a renal
Maixnerová Dita, Tesař Vladimír, Ryšavá Romana, Reiterová Jana, Poupětová Helena, Dvořáková Lenka, Goláň Lubor, Neprašová Michaela, Kidorová Jana, Merta Miroslav, Honsová Eva   +10 more
doaj   +1 more source

p.R220L Is a Likely Pathogenic Novel GLA Gene Mutation Responsible for Fabry Disease

Anatolian Journal of Cardiology, 2022
Fabry disease is a progressive and rare storage disease that occurs due to low or complete deficiency of lysosomal alpha galactosidase-A (α-GLA) enzyme activity.
Hasan Ali Barman, Adem Atıcı, Serhan Özyıldırım, Serdar Ceylaner, Memduh Dursun, Sait Mesut Doğan   +5 more
doaj   +1 more source

Il DBS come test diagnostico nella malattia di Fabry

Giornale di Clinica Nefrologia e Dialisi, 2017
non ...
Simone Scalia
doaj   +1 more source

Enzymatic properties and clinical associations of serum alpha‐galactosidase A in Parkinson's disease

Annals of Clinical and Translational Neurology, 2023
Objective Recent studies have revealed an association between Parkinson's disease (PD) and Fabry disease, a lysosomal storage disorder; however, the underlying mechanisms remain to be elucidated.
Yasuaki Mizutani, Kazuki Nawashiro, Reiko Ohdake, Harutsugu Tatebe, Sayuri Shima, Akihiro Ueda, Junichiro Yoshimoto, Mizuki Ito, Takahiko Tokuda, Tatsuro Mutoh, Hirohisa Watanabe   +10 more
doaj   +1 more source

Compression behavior of the enzyme ß-galactosidase [PDF]

, 2004
This thesis is based on the investigation of the compression behavior of a solid model enzyme. It was the scope of this work to characterize the behavior of the enzyme powder under pressure to gain on the one hand information about the behavior of ...
Kuny, Tanja Tamara
core   +1 more source

Case report: De novo mutation of a-galactosidase A in a female patient with end-stage renal disease: report of a case of late diagnosis of Anderson–Fabry disease

Frontiers in Genetics, 2023
Background: Anderson–Fabry disease (AFD) is an X-linked disease that results from reduced activity of the enzyme galactosidase alpha (GLA). When the GLA gene sequence is altered by mutations that alter the normal DNA sequence, variants of the alpha ...
Irene Simonetta, Renata Riolo, Federica Todaro, Vincenzo Donadio, Alex Incensi, Salvatore Miceli, Paolo Colomba, Giovanni Duro, Antonino Tuttolomondo   +8 more
doaj   +1 more source

Immobilization of Streptomyces griseoloalbus alpha galactosidase and soymilk hydrolysis

, 2021
This data is regarding the characterization of immobilized alpha galactosidase from Streptomyces griseolalbus in gelatin-alginate blended beads and hydrolysis of raffinose oligosaccharides in ...
GS, A (via Mendeley Data)
core   +1 more source

A Distinct Urinary Biomarker Pattern Characteristic of Female Fabry Patients That Mirrors Response to Enzyme Replacement Therapy [PDF]

, 2011
Female patients affected by Fabry disease, an X-linked lysosomal storage disorder, exhibit a wide spectrum of symptoms, which renders diagnosis, and treatment decisions challenging.
Breunig Frank, Wanner, Christoph, Hughes, D A, Warnock, D G, Derralynn A Hughes, Mullen, William, Andreas D. Kistler, Andreas D Kistler, Kistler Andreas D., Jeevaratnam, P, Serra, AL, Siwy, Justyna, Frank, Breunig, Derralynn A. Hughes, Scherl, A, Alexander Scherl, Mischak Harald, Mischak, H., Wüthrich, Rudolf P., Andreas L Serra, Jeevaratnam Praveen, Warnock, D.G., Kistler, A D, Jeevaratnam, P., Rudolf P. Wüthrich, Warnock, DG, Wüthrich Rudolf P., Wanner Christoph, Frank Breunig, Praveen Jeevaratnam, Justyna Siwy, Wüthrich, R P, Serra, A L, Serra Andreas L., Mischak, Harald, Hughes, DA, David G. Warnock, Breunig, F, Serra, Andreas L., Serra, A.L., Christoph Wanner, Jeevaratnam, Praveen, William Mullen, Kistler, AD, Scherl, A., Siwy, J., Hughes Derralynn A., Wanner, C., Mischak, H, Siwy Justyna, Warnock, David G., Andreas L. Serra, Scherl, Alexander, Wanner, C, Wüthrich, R.P., Kistler, Andreas D., Mullen, W., Breunig, F., Siwy, J, Hughes, Derralynn A., Wuthrich, RP, Mullen William, Kistler, A.D., Harald Mischak, Hughes, D.A., Scherl Alexander, David G Warnock, Rudolf P Wüthrich, Warnock David G., Mullen, W   +69 more
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Might Be Fabry Disease?

Turkish Journal of Internal Medicine, 2020
Fabry disease, also known as Anderson-Fabry disease, is a X-linked lysosomal storage disease. Alpha-galactosidase A (alpha-Gal A) enzyme deficiency leads globotriaosylceramide (Gb3) accumulation in several cells which causes clinical manifestations of ...
Aysegul Oruc
doaj  

Functional Characterisation of Alpha-Galactosidase A Mutations as a Basis for a New Classification System in Fabry Disease

, 2013
This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.The study has been ...
Rolfs, A, Hermann Mascher (440562), Hermann Mascher, Anne-Katrin Giese, Ed Kolodny, Ulrike Grittner, Anne-Katrin Giese (440558), Arndt Rolfs (140849), Arseni Markoff (440559), Mascher, H, Arseni Markoff, Markoff, A, Karl J. Lackner (133732), Viatcheslav Saviouk (364866), Viatcheslav Saviouk, Saviouk, V, Phillip Wree, Arndt Rolfs, Grittner, U, Jan Lukas, Kolodny, E, Ed Kolodny (440561), Phillip Wree (440564), Wree, P, Jan Lukas (338014), Ulrike Grittner (440560), Karl J Lackner, Lukas, J, Wolfgang Meyer, Meyer, W, Wolfgang Meyer (440563), Giese, A-K, Lackner, KJ   +32 more
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