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Cornea, 2009
To report the case of a patient with Fabry disease (FD) whose ocular presentation with chronic chemosis we feel is related to FD and to describe the conjunctival fluorescein angiographic findings.A 51-year-old male patient with FD on enzyme replacement therapy presented with 1-month chemosis and mild irritation in the left eye.
Angela Walter +3 more
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To report the case of a patient with Fabry disease (FD) whose ocular presentation with chronic chemosis we feel is related to FD and to describe the conjunctival fluorescein angiographic findings.A 51-year-old male patient with FD on enzyme replacement therapy presented with 1-month chemosis and mild irritation in the left eye.
Angela Walter +3 more
openaire +3 more sources
Predictors of Clinical Evolution in Prehypertrophic Fabry Disease
Circulation Cardiovascular Imaging, 2019Background: In prehypertrophic Fabry disease, low myocardial T1 values, reflecting sphingolipid storage, are associated with early structural and ECG changes.
A. Camporeale +15 more
semanticscholar +1 more source
1995
Fabry’s disease (FD) is an X-linked recessive disorder. The onset of clinical symptoms usually occurs during childhood or adolescence, but may be as late as the third or fourth decade. Early manifestations consist of episodic pain in the extremities and a teleangiectatic scaly maculopapular rash called angiokeratoma corporis diffusum.
Marjo S. van der Knaap, Jacob Valk
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Fabry’s disease (FD) is an X-linked recessive disorder. The onset of clinical symptoms usually occurs during childhood or adolescence, but may be as late as the third or fourth decade. Early manifestations consist of episodic pain in the extremities and a teleangiectatic scaly maculopapular rash called angiokeratoma corporis diffusum.
Marjo S. van der Knaap, Jacob Valk
openaire +2 more sources
1993
Fabry’s disease, also called angiokeratoma corporis diffusum universale, is an X-linked recessive condition of males. It is due to an inborn error of glycolipid metabolism due to a deficiency of the enzyme α-galactosidase and where ceramide trihexose is stored in tissues.
Alan H. Friedman, Juan Orellana
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Fabry’s disease, also called angiokeratoma corporis diffusum universale, is an X-linked recessive condition of males. It is due to an inborn error of glycolipid metabolism due to a deficiency of the enzyme α-galactosidase and where ceramide trihexose is stored in tissues.
Alan H. Friedman, Juan Orellana
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The pathophysiology of Fabry disease
Revista Clínica Española (English Edition), 2018Fabry disease is a lysosomal condition with systemic clinical expression, caused by the tissue deposit of globotriaosylceramide, due to a deficit in its degradation. As with most lysosomal diseases, the presence of a mutation in a gene does not explain the pathophysiological disorders shown by patients.
C. Josa-Laorden +2 more
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Journal of Neurology, 1993
This study was performed to characterize the frequency, clinical presentation and etiology of cerebrovascular complications in patients with Fabry's disease. Thirty-three patients (age range 6-64 years) with Fabry's disease were reviewed, eight (24%) of whom suffered cerebrovascular complications. All patients developed ischemic strokes involving small
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This study was performed to characterize the frequency, clinical presentation and etiology of cerebrovascular complications in patients with Fabry's disease. Thirty-three patients (age range 6-64 years) with Fabry's disease were reviewed, eight (24%) of whom suffered cerebrovascular complications. All patients developed ischemic strokes involving small
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British Journal of Dermatology, 2006
SUMMARY Electron microscopy of clinically uninvolved skin taken from a 12-month-old male child with biochemically proven angiokeratoma corporis diffusum showed characteristic lamellar lipid deposits within endothclial and perithelial cells of dermal blood vessels. Ultrastructural examination of skin may aid the early identification of males affected
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SUMMARY Electron microscopy of clinically uninvolved skin taken from a 12-month-old male child with biochemically proven angiokeratoma corporis diffusum showed characteristic lamellar lipid deposits within endothclial and perithelial cells of dermal blood vessels. Ultrastructural examination of skin may aid the early identification of males affected
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Cardiovascular Pathology, 2011
Fabry's disease (FD) is a rare X-linked recessive genetic disorder that leads to premature mortality as a result of renal, cardiovascular, or cerebrovascular complications. FD is caused by a deficiency of α-galactosidase A (alpha-Gal A), due to mutations in the GLA gene.
openaire +3 more sources
Fabry's disease (FD) is a rare X-linked recessive genetic disorder that leads to premature mortality as a result of renal, cardiovascular, or cerebrovascular complications. FD is caused by a deficiency of α-galactosidase A (alpha-Gal A), due to mutations in the GLA gene.
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Revista Clínica Española (English Edition), 2018
Fabry disease is an X-linked inborn disease caused by deficit of alpha-galactosidaseA. This results in accumulation of glycosphingolipids in all cells and tissues. All males should receive enzyme replacement treatment in case of very low or undetectable levels of alpha-galactosidaseA.
openaire +3 more sources
Fabry disease is an X-linked inborn disease caused by deficit of alpha-galactosidaseA. This results in accumulation of glycosphingolipids in all cells and tissues. All males should receive enzyme replacement treatment in case of very low or undetectable levels of alpha-galactosidaseA.
openaire +3 more sources