Results 131 to 140 of about 11,284 (188)
Left atrial strain tracks abnormal ventricular mechanics in Fabry disease. [PDF]
Open HeartCheepvasarach C +10 more
europepmc +1 more source
Small fiber neuropathy in pediatric female heterozygotes of Fabry disease: a twin case report. [PDF]
BMC PediatrCastellar-Leones SM +4 more
europepmc +1 more source
Case Report: Fabry disease presenting with electrocardiographic findings mimicking acute myocardial infarction: a diagnostic challenge. [PDF]
Front Cardiovasc MedXie JM, Li Q, Xiao ZQ, Zheng ZJ.
europepmc +1 more source
Spinal Anesthesia in a Respiratory-Compromised Patient With Fabry Disease Undergoing Umbilical Hernia Repair: A Case Report. [PDF]
CureusMavridou P +4 more
europepmc +1 more source
Pathophysiological mechanisms of organ injury in Fabry disease: Update via multi-omics. [PDF]
Genes DisWei Z, Yang J, Han Z, Zhang X, Wang B.
europepmc +1 more source
Some of the next articles are maybe not open access.
Related searches:
Related searches:
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
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
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 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
openaire +2 more sources
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
openaire +2 more sources
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