Results 221 to 230 of about 82,602 (277)
Bypassing the imaging thickness limit with a translationally-invariant nonlocal thin film. [PDF]
Nat CommunZhang B +8 more
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Treatment-related benefit and satisfaction in patients with Fabry disease in France: insight into patients' expectations and preferences from the prospective, non-interventional SATIS-Fab study. [PDF]
Orphanet J Rare DisLidove O +10 more
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A mulberry in female hypertrophic cardiomyopathy. [PDF]
Oxf Med Case ReportsImataki O +3 more
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Sex-Based Disparities in Fabry Disease Cause Challenges in Newborn Screening.
Public Health GenomicsFuruta Y +12 more
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Grating based interferometric devices on a silicon photonic platform. [PDF]
Sci RepMikhail TJG, Swillam SM, Swillam MA.
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Journal of the Neurological Sciences, 2014
Fabry's disease is an X-linked lysosomal storage disorder caused by abnormalities in the GLA gene, which leads to a deficiency in α-galactosidase A. The abnormal accumulation of glycosphingolipids, primarily globotriaosylceramide, manifests as serious and progressive impairment of renal and cardiac functions.
Rima, El-Abassi +2 more
openaire +2 more sources
Fabry's disease is an X-linked lysosomal storage disorder caused by abnormalities in the GLA gene, which leads to a deficiency in α-galactosidase A. The abnormal accumulation of glycosphingolipids, primarily globotriaosylceramide, manifests as serious and progressive impairment of renal and cardiac functions.
Rima, El-Abassi +2 more
openaire +2 more sources
Journal of Echocardiography, 2017
Fabry disease resulting from a deficiency of α-galactosidase A leads to the accumulation of globotriaosylceramide in various organs. Because the disease is an X-linked recessive disorder, males tend to develop more symptoms and more severe symptoms than females.
Toshinori Yuasa +10 more
openaire +2 more sources
Fabry disease resulting from a deficiency of α-galactosidase A leads to the accumulation of globotriaosylceramide in various organs. Because the disease is an X-linked recessive disorder, males tend to develop more symptoms and more severe symptoms than females.
Toshinori Yuasa +10 more
openaire +2 more sources
Current Opinion in Neurology, 2011
This review discusses the literature on Fabry disease mainly in the domain of neurology with special attention to recent advancement.Fabry neuropathy is known as a length-dependent peripheral neuropathy affecting mainly the small myelinated (Aδ) fibers and unmyelinated (C) fibers.
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This review discusses the literature on Fabry disease mainly in the domain of neurology with special attention to recent advancement.Fabry neuropathy is known as a length-dependent peripheral neuropathy affecting mainly the small myelinated (Aδ) fibers and unmyelinated (C) fibers.
openaire +3 more sources
Applied Optics, 1973
The opening session of the 1968 International Ozone Symposium in Monaco was a centenary year ribute to Charles Fabry. This paper is a record of the three speeches made during the session.
J, Lecomte, A, Arnulf, E, Vassy
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The opening session of the 1968 International Ozone Symposium in Monaco was a centenary year ribute to Charles Fabry. This paper is a record of the three speeches made during the session.
J, Lecomte, A, Arnulf, E, Vassy
openaire +2 more sources