Results 61 to 70 of about 5,245,219 (176)

The Prevalence of Fabry Disease in Patients with Chronic Kidney Disease in Turkey: The TURKFAB Study

Kidney & Blood Pressure Research, 2016
Background/Aims: Fabry disease is a treatable cause of chronic kidney disease (CKD) characterized by a genetic deficiency of α-galactosidase A. European Renal Best Practice (ERBP) recommends screening for Fabry disease in CKD patients.
Kultigin Turkmen, Aydın Guclu, Garip Sahin, Ismail Kocyigit, Levent Demirtas, Fatih Mehmet Erdur, Erkan Sengül, Oktay Ozkan, Habib Emre, Faruk Turgut, Hilmi Unal, Murat Karaman, Cengiz Acıkel, Hasan Esen, Ebru Balli, Gulfidan Bıtırgen, Halil Zeki Tonbul, Mahmut Ilker Yılmaz, Alberto Ortiz   +18 more
doaj   +1 more source

Cornea verticillata in Fabry disease [PDF]

Терапевтический архив, 2018
Cornea verticillata is the typical sign of ocular involvement in Fabry disease and manifests by the whorl-like, linear opacities in the inferior part of the cornea. Aim.
S V Moiseev, D S Ismailova, A S Moiseev, N M Bulanov, E A Karovaikina, N R Nosova, V V Fomin   +6 more
doaj   +1 more source

Molecular dynamics simulations elucidate the misfolding mechanisms of secretion‐defective pancreatic lipase variants

The FEBS Journal, EarlyView.
Misfolding mutations in pancreatic lipase have been identified as potential contributors of chronic pancreatitis, an inflammatory disease of the human pancreas. Here, we describe the effect of these misfolding mutations on pancreatic lipase structure using molecular dynamics simulations and structural modeling.
Gyula Hoffka, András Szabó
wiley   +1 more source

Screening for the Frequency of Fabry Disease in Patients Followed Up in the Nephrology Outpatient Clinic [PDF]

Background: The goal of this study was to determine the prevalence of Fabry disease in the nephrology outpatient clinic population, whose diagnosis is frequently delayed despite the availability of enzyme replacement therapy today.
Demirci, Meltem Sezis, Seray Saray, Aygül Çeltik, Mümtaz Yılmaz, Celtik, Ayguel, Asci, Gulay, Meltem Seziş Demirci, Saray, Seray, Atay, Gokhan, Yilmaz, Mumtaz, Gökhan Atay, Gülay Aşçı   +11 more
core   +1 more source

The relationship between multiple plasma biomarker levels and renal disease activity in Fabry disease

BMC Nephrology
Background Fabry disease is a rare lysosomal storage disorder. The genotypic and phenotypic heterogeneity of the disease complicates the prediction of disease activity.
Seyda Gul Ozcan, Necmi Eren, Mevlut Tamer Dincer, Zeynep Atli, Murat Bolayirli, Metin Ergul, Hakan Ozer, Kultigin Turkmen, Sinan Trabulus, Nurhan Seyahi   +9 more
doaj   +1 more source

Brillouin–Raman micro‐mapping of silicone‐hydrogel contact lenses: Revealing chemical and mechanical heterogeneities

Journal of Microscopy, EarlyView.
Abstract Joint Brillouin–Raman micro‐spectroscopy (BRMS) enables simultaneous, non‐destructive characterisation of the mechanical and chemical properties of soft materials at the micrometre scale, combining GHz‐range viscoelastic information from acoustic modes with the vibrational fingerprint of molecular species.
Alessandra Anna Passeri, Martina Alunni Cardinali, Erika Ponzini, Silvia Tavazzi, Daniele Fioretto   +4 more
wiley   +1 more source

Cardiac phenotype of Fabry Disease [PDF]

, 2018
Clinical case demonstrates a cardiovascular phenotype of Fabry disease — rare inherited disorder, linked with female sex. Clinically manifest Fabry disease is described in female patient with paroxysmal atrial fibrillation.
R. P. Myasnikov, M. S. Kharlap, K. V. Davtyan, N. A. Sonicheva, T. О. Pavlunina, S. A. Beregovskaya, E. A. Mershina   +6 more
core   +1 more source

Management of pain in Fabry disease in the UK clinical setting: consensus findings from an expert Delphi panel

Orphanet Journal of Rare Diseases, 2023
Background Fabry disease is a rare, X-linked inherited lysosomal storage disorder, that manifests as a heterogeneous disease with renal, cardiac and nervous system involvement. The most common pain experienced by people with Fabry disease are episodes of
Karolina M. Stepien, Alexander Broomfield, Duncan Cole, Patrick B. Deegan, Stuart Forshaw-Hulme, Derralynn Hughes, Ana Jovanovic, Liz Morris, Alison Muir, Uma Ramaswami   +9 more
doaj   +1 more source

Artefact‐aware Brillouin microscopy framework for root mechanical phenotyping

Journal of Microscopy, EarlyView.
Abstract Plant roots continuously sense and respond to the mechanical signals of their growth environment: root cap function, mucilage secretion, and hormonal regulation jointly adapt root tip mechanics, shaping whether roots penetrate compacted layers or reorient around obstacles. Most current measurements of root mechanical properties require removal
Timm Landes, Ole Christian Hammerschmidt, Leon Pascal Wallentin, Ghulam Naseer Ud Din, Jacob Morsbach, Luis Alonso Baez, Dag Heinemann   +6 more
wiley   +1 more source

Comprehensive and differential long-term characterization of the alpha-galactosidase A deficient mouse model of Fabry disease focusing on the sensory system and pain development

Molecular Pain, 2016
Background Fabry disease is an X-linked lysosomal storage disorder due to impaired activity of alpha-galactosidase A with intracellular accumulation of globotriaosylceramide. Associated small fiber pathology leads to characteristic pain in Fabry disease.
Nurcan Üçeyler MD, Lydia Biko, Dorothea Hose, Lukas Hofmann BSc, Claudia Sommer MD   +4 more
doaj   +1 more source