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Pulmonary involvement in Fabry disease
, 2006 Pulmonary involvement in Fabry disease has received less attention than the effects of the disease on the kidneys, nervous system or heart. However, data from FOS -the Fabry Outcome Survey - are now helping to elucidate the pulmonary manifestations of ...
Barbey, F., Aubert, J.D.
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Fabry disease: Enfermedad de fabry
, 2018 RESUMEN La enfermedad de Fabry es una enfermedad de depósito lisosomal causada por la deficiencia de la enzima alfa galactosidasa A, con patrón de herencia ligado al cromosoma X. El cuadro clínico tiene una variedad de síntomas y signos; y se han descrito una variante clínica clásica y variantes clínica no clásica como la renal o cardíaca.
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, 2005 Several designs of infrared absorption based gas detector use a Fabry-Perot Interferometer (FPI) to modulate the incident light. In these systems, generally the FPI's fringes are matched with very well defined rotational absorption lines of a target ...
SPIE Europe Internation Symposium on Optical System Design +2 more
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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
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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
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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
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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
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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.
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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
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The Lancet, 2008
Fabry's disease is an X-linked lysosomal storage disorder caused by abnormalities in the GLA gene, which leads to a deficiency in alpha-galactosidase A. The consequent abnormal accumulation of glycosphingolipids results in several clinical signs and symptoms and substantial morbidity and mortality.
Yuri A, Zarate, Robert J, Hopkin
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Fabry's disease is an X-linked lysosomal storage disorder caused by abnormalities in the GLA gene, which leads to a deficiency in alpha-galactosidase A. The consequent abnormal accumulation of glycosphingolipids results in several clinical signs and symptoms and substantial morbidity and mortality.
Yuri A, Zarate, Robert J, Hopkin
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Clinical Genetics, 1989
Fifteen hemizygotes and 30 heterozygotes have been diagnosed since our investigations of Fabry's disease were started 10 years ago. They belong mainly to three Danish families. Genetic counseling and prenatal diagnoses have been performed, and in vitro studies of cultured fibroblasts and endothelial cells have been made with special reference to enzyme
L, Hasholt, A, Wandall, S A, Sørensen
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Fifteen hemizygotes and 30 heterozygotes have been diagnosed since our investigations of Fabry's disease were started 10 years ago. They belong mainly to three Danish families. Genetic counseling and prenatal diagnoses have been performed, and in vitro studies of cultured fibroblasts and endothelial cells have been made with special reference to enzyme
L, Hasholt, A, Wandall, S A, Sørensen
openaire +2 more sources