Results 181 to 190 of about 57,841 (208)
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SHORT PR AND PRE–EXCITED QRS APPEARANCE – ANDERSON FABRY DISEASE OR ACCESSORY PATHWAY?
European Heart Journal, SupplementA 68-year-old woman comes to our attention for brief episodes of heart palpitation. History of Anderson-Fabry disease with cardiac involvement (hypertrophic phenotype with preserved left ventricular function), neurological, cutaneous and ocular in ...
E. Trovarelli +8 more
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Nephrology, Dialysis and Transplantation
Anderson–Fabry disease (AFD) is a genetic disorder due to mutations in the GLA gene that result in a deficiency of the enzymatic activity of a-galactosidase A and in a consequent accumulation of glycosphingolipids in various tissues and organs ...
Gemma Antonucci +7 more
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Anderson–Fabry disease (AFD) is a genetic disorder due to mutations in the GLA gene that result in a deficiency of the enzymatic activity of a-galactosidase A and in a consequent accumulation of glycosphingolipids in various tissues and organs ...
Gemma Antonucci +7 more
semanticscholar +1 more source
#2556 Exploring exosome-mediated effects on renal pathology in Anderson Fabry disease
Nephrology, Dialysis and TransplantationDespite substantial progress in understanding the molecular basis of genetic lysosomal storage diseases, the systemic mechanisms linking lysosomal defects in specific cells to widespread organ damage remain unclear, particularly in Anderson-Fabry ...
L. Lenzini +11 more
semanticscholar +1 more source
2008
Anderson-Fabry disease is a multisystemic lysosomal storage disorder due to a deficiency of α-galactosidase A resulting in an accumulation of neutral glycosphingolipids. Due to its rare occurrence the disease is often misdiagnosed or the correct diagnose is delayed for many years (Weidemann et al. 2008).
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Anderson-Fabry disease is a multisystemic lysosomal storage disorder due to a deficiency of α-galactosidase A resulting in an accumulation of neutral glycosphingolipids. Due to its rare occurrence the disease is often misdiagnosed or the correct diagnose is delayed for many years (Weidemann et al. 2008).
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Anderson-Fabry's disease: α galactosidase deficiency
The Lancet, 2001Correspondence to: Dr F P J Peters smooth muscles of blood vessels, erector pilori muscles in skin, myocardium, epithelial cells of the cornea, as well as in the kidney, pancreas, bowel, lung, and other tissues. The disease can be divided into classic hemizygous, atypical, and heterozygous (female) forms (panel).
F P, Peters, A, Vermeulen, T L, Kho
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The heart in Anderson Fabry disease
Zeitschrift für Kardiologie, 2002Anderson Fabry disease is a life threatening, X-linked inborn metabolic defect of the lysosomal enzyme áalpha-galactosidase A. The deficiency of alpha-galactosidase A leads to a progressive accumulation of globotriaosylceramide (Gb(3)), the major glycosphingolipid substrate of the enzyme, within vulnerable cells, tissues, and organs, including the ...
Christoph, Kampmann +5 more
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Misleading terms in Anderson‐Fabry disease
European Journal of Clinical Investigation, 2008ABSTRACTBackground Signs and symptoms of classic Fabry disease manifest itself on the skin (angiokeratoma), the nervous system (acroparaesthesia), the heart (restrictive cardiomyopathy) and a variety of other organs.Materials and methods Diagnosis of Fabry disease was confirmed by genetic tests in a cohort of 100 patients and a standardized ...
F, Weidemann +7 more
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Biomarkers in anderson-Fabry disease: what should we use in the clinical practice?
Rare Disease and Orphan Drugs JournalMajor organ involvement in Anderson-Fabry disease (FD) is clinically silent for a long period and clinically heterogeneous; thus, it is difficult to identify the patients at increasing risk of a progressive disorder.
P. Aguiar
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Anderson-Fabry's disease: Neuropathological and neurochemical investigation
Acta Neuropathologica, 1982A clinical, neuropathological and neurochemical study of a case of Anderson-Fabry's disease is described. The clinical course mainly consisted of repeated ictus with major involvement of the CNS. The neuropathological examination is dominated by severe alterations in the cerebral vessels due to glycolipid deposits on the walls, with reduction or ...
Tagliavini, F. +5 more
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Radiology, 2018
Purpose To compare left ventricular (LV) and right ventricular (RV) 3.0-T cardiac magnetic resonance (MR) imaging T1 values in Anderson-Fabry disease (AFD) and hypertrophic cardiomyopathy (HCM) and evaluate the diagnostic value of native T1 values beyond
G. Karur +9 more
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Purpose To compare left ventricular (LV) and right ventricular (RV) 3.0-T cardiac magnetic resonance (MR) imaging T1 values in Anderson-Fabry disease (AFD) and hypertrophic cardiomyopathy (HCM) and evaluate the diagnostic value of native T1 values beyond
G. Karur +9 more
semanticscholar +1 more source