Results 81 to 90 of about 4,991,114 (167)

NEFROPATÍA POR ENFERMEDAD DE FABRY ASOCIADA A AGENESIA RENAL CONGÉNITA

Revistas Argentina de Medicina, 2017
Se presenta una mujer de 42 años de edad con agenesia renal congénita y enfermedad de Fabry, una asociación no comunicada hasta la fecha. Ambas patologías son posibles causas de proteinuria. Por la contraindicación relativa que significa la presencia de
Sebastián Pedro Antonio Jaurretche
doaj   +2 more sources

Short pulse generation with 40 GHz passively-mode locked Q-dashed Fabry-Pérot laser [PDF]

, 2009
Generation of sub-picosecond pulses by a DC-biased passively mode-locked Fabry-Perot laser is demonstrated. By using a tunable band-pass filter, it is observed that the width of the generated pulses decreases in direct proportion to the optical modes ...
Latkowski, Sylwester, Sylwester Latkowski, Maldonado-Basilio, Ramón, Pascal Landais, Ramon Maldonado-Basilio, Landais, Pascal   +5 more
core   +3 more sources

Impact of enzyme replacement therapy on clinical manifestations in females with Fabry disease

Orphanet Journal of Rare Diseases
Background The aim of our multicenter study was to investigate the implementation of the European Fabry guidelines on therapeutic recommendations in female patients with Fabry disease (FD) and to analyze the impact of enzyme replacement therapy (ERT) in ...
Malte Lenders, Albina Nowak, Markus Cybulla, Jessica Kaufeld, Anja Friederike Köhn, Nicole Maria Muschol, Christine Kurschat, Eva Brand   +7 more
doaj   +1 more source

Human Alpha Galactosidases Transiently Produced in Nicotiana benthamiana Leaves: New Insights in Substrate Specificities with Relevance for Fabry Disease

Frontiers in Plant Science, 2017
Deficiency of α-galactosidase A (α-GAL) causes Fabry disease (FD), an X-linked storage disease of the glycosphingolipid globtriaosylcerammide (Gb3) in lysosomes of various cells and elevated plasma globotriaosylsphingosine (Lyso-Gb3) toxic for podocytes ...
Kassiani Kytidou, Thomas J. M. Beenakker, Lotte B. Westerhof, Cornelis H. Hokke, Geri F. Moolenaar, Nora Goosen, Mina Mirzaian, Maria J. Ferraz, Mark de Geus, Wouter W. Kallemeijn, Herman S. Overkleeft, Rolf G. Boot, Arjen Schots, Dirk Bosch, Johannes M. F. G. Aerts   +14 more
doaj   +1 more source

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  

Zurich Fabry study - prevalence of Fabry disease in young patients with first cryptogenic ischaemic stroke or TIA

, 2012
BACKGROUND AND PURPOSE: The etiology of stroke in young patients remains undetermined in up to half of the cases. Data on prevalence of Fabry disease (FD) in young people with cryptogenic ischaemic stroke are limited and controversial.
Sarikaya, H, Steinmann, B, Baumgartner, R W, Yilmaz, M, Miserez, A R, Michael, N   +5 more
core   +1 more source

Looking for Fabry, Finding More: LVH Screening Yields Unexpected Gaucher Diagnosis

Medical Sciences
Objective: Fabry disease (FD) is a rare, X-linked lysosomal storage disorder resulting from deficient α-galactosidase A activity, which can manifest as left ventricular hypertrophy (LVH). We aimed to assess the prevalence of FD in an unselected cohort of
Sylwia Szczepara, Klaudia Pacia, Katarzyna Trojanowicz, Klaudia Bielecka, Michał Tworek, Zuzanna Sachajko, Katarzyna Holcman, Piotr Podolec, Monika Komar   +8 more
doaj   +1 more source

Fabry disease phenotyping in women from the complete Romanian cohort – time for early diagnostic awareness

Romanian Journal of Internal Medicine
Fabry disease (FD) is an X-linked rare disorder caused by mutations in the GLA gene. Women with FD have been less enrolled in studies and less treated compared with men.
Mursă Adriana, Militaru Sebastian, Rusu Elena, Onciul Sebastian, Neculae Gabriela, Adam Robert, Ciobotaru Lucia, Stefănescu Vlad, Dulămea Adriana, Rădoi Viorica, Popescu Bogdan Alexandru, Ismail Gener, Jurcuţ Ruxandra   +12 more
doaj   +1 more source

Genetics, cardiac phenotype and cardiovascular outcomes in Fabry disease patients in Finland

ESC Heart Failure
Aims To investigate the genetics, cardiac phenotype and cardiovascular outcomes of Finnish Fabry patients. Methods and results Among the 109 patients with Fabry disease (FD) diagnosed in Finland by 2018, 97 (89%; 32 males and 65 females, mean ages 42 and
Kati Valtola, Päivi Pietilä‐Effati, Jonna M. E. Männistö, Susanne Walls, Ilkka Kantola, Johanna Kuusisto   +5 more
doaj   +1 more source

GLA Mutations Suppress Autophagy and Stimulate Lysosome Generation in Fabry Disease

Cells
Fabry disease (FD) is an X-linked recessive inheritance lysosomal storage disorder caused by pathogenic mutations in the GLA gene leading to a deficiency of the enzyme alpha-galactosidase A (α-Gal A).
Ping Li, Yuqian Xi, Yanping Zhang, Abdus Samad, Wenli Lan, Ya Wu, Jiayu Zhao, Guangxin Chen, Changxin Wu, Qiuhong Xiong   +9 more
doaj   +1 more source