FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2073058993> ?p ?o ?g. }

• W2073058993 endingPage "140" @default.
• W2073058993 startingPage "138" @default.
• W2073058993 abstract "Case presentation A 63-year-old woman was referred to hospital for investigation of a systolic murmur. Echocardiography suggested mitral regurgitation with non-concentric left-ventricular hypertrophy, but no other abnormalities. She was normotensive, and subsequent coronary angiography did not show any evidence of coronary artery disease. The patient was referred to the department of internal medicine for further investigation because of widespread telangiectatic spots on her torso and limbs and a 10–12 year history of episodic pain in her hands and feet. There was no family history of cardiovascular, renal, neurological, or dermatological disorders, and no other abnormalities were apparent on routine examination (figure 1). However, formal ophthalmological examination showed the presence of corneal opacities and atypical tordation of retinal vessels. Abnormalities were not detected on routine biochemical screening, but examination of urine by polarisation microscopy showed birefringent lipid molecules, with a Maltese cross appearance. Skin biopsy samples showed dilatation of superficial capillaries and lipid deposition in endothelial cells (figure 2). Renal biopsy and electron microscopy were not done. Diagnosis of non-classical, heterozygous Fabry's disease was suggested by the decreased activity of α-galactosidase A in serum samples (42; normal 50–150 nmol/h/mg protein). A point mutation in exon two of Arg 112 Cys of allele one of the α-galactosidase A gene was shown by sequence analysis of exons one to seven after PCR amplification. The patient was given symptomatic treatment for her acroparaesthesiae. Figure 2Skin biopsy sample showing dilatation of superficial dermal capillaries Show full caption Lipid deposition in endothelium (unfilled arrow) and pericyte (filled arrow). Frozen section, PAS diastase. Original magnification ×340. View Large Image Figure Viewer Download Hi-res image Case presentation A 63-year-old woman was referred to hospital for investigation of a systolic murmur. Echocardiography suggested mitral regurgitation with non-concentric left-ventricular hypertrophy, but no other abnormalities. She was normotensive, and subsequent coronary angiography did not show any evidence of coronary artery disease. The patient was referred to the department of internal medicine for further investigation because of widespread telangiectatic spots on her torso and limbs and a 10–12 year history of episodic pain in her hands and feet. There was no family history of cardiovascular, renal, neurological, or dermatological disorders, and no other abnormalities were apparent on routine examination (figure 1). However, formal ophthalmological examination showed the presence of corneal opacities and atypical tordation of retinal vessels. Abnormalities were not detected on routine biochemical screening, but examination of urine by polarisation microscopy showed birefringent lipid molecules, with a Maltese cross appearance. Skin biopsy samples showed dilatation of superficial capillaries and lipid deposition in endothelial cells (figure 2). Renal biopsy and electron microscopy were not done. Diagnosis of non-classical, heterozygous Fabry's disease was suggested by the decreased activity of α-galactosidase A in serum samples (42; normal 50–150 nmol/h/mg protein). A point mutation in exon two of Arg 112 Cys of allele one of the α-galactosidase A gene was shown by sequence analysis of exons one to seven after PCR amplification. The patient was given symptomatic treatment for her acroparaesthesiae." @default.
• W2073058993 created "2016-06-24" @default.
• W2073058993 creator A5039072535 @default.
• W2073058993 creator A5039129720 @default.
• W2073058993 creator A5080688482 @default.
• W2073058993 date "2001-01-01" @default.
• W2073058993 modified "2023-10-06" @default.
• W2073058993 title "Anderson-Fabry's disease: α galactosidase deficiency" @default.
• W2073058993 cites W1527172969 @default.
• W2073058993 cites W2000257500 @default.
• W2073058993 cites W2048856089 @default.
• W2073058993 cites W2101425200 @default.
• W2073058993 doi "https://doi.org/10.1016/s0140-6736(00)03554-6" @default.
• W2073058993 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/11197415" @default.
• W2073058993 hasPublicationYear "2001" @default.
• W2073058993 type Work @default.
• W2073058993 sameAs 2073058993 @default.
• W2073058993 citedByCount "45" @default.
• W2073058993 countsByYear W20730589932012 @default.
• W2073058993 countsByYear W20730589932014 @default.
• W2073058993 countsByYear W20730589932015 @default.
• W2073058993 countsByYear W20730589932016 @default.
• W2073058993 countsByYear W20730589932018 @default.
• W2073058993 countsByYear W20730589932019 @default.
• W2073058993 countsByYear W20730589932021 @default.
• W2073058993 countsByYear W20730589932022 @default.
• W2073058993 crossrefType "journal-article" @default.
• W2073058993 hasAuthorship W2073058993A5039072535 @default.
• W2073058993 hasAuthorship W2073058993A5039129720 @default.
• W2073058993 hasAuthorship W2073058993A5080688482 @default.
• W2073058993 hasConcept C126322002 @default.
• W2073058993 hasConcept C142724271 @default.
• W2073058993 hasConcept C2775934546 @default.
• W2073058993 hasConcept C2775964029 @default.
• W2073058993 hasConcept C2777404818 @default.
• W2073058993 hasConcept C2779134260 @default.
• W2073058993 hasConcept C71924100 @default.
• W2073058993 hasConceptScore W2073058993C126322002 @default.
• W2073058993 hasConceptScore W2073058993C142724271 @default.
• W2073058993 hasConceptScore W2073058993C2775934546 @default.
• W2073058993 hasConceptScore W2073058993C2775964029 @default.
• W2073058993 hasConceptScore W2073058993C2777404818 @default.
• W2073058993 hasConceptScore W2073058993C2779134260 @default.
• W2073058993 hasConceptScore W2073058993C71924100 @default.
• W2073058993 hasIssue "9250" @default.
• W2073058993 hasLocation W20730589931 @default.
• W2073058993 hasLocation W20730589932 @default.
• W2073058993 hasOpenAccess W2073058993 @default.
• W2073058993 hasPrimaryLocation W20730589931 @default.
• W2073058993 hasRelatedWork W177496374 @default.
• W2073058993 hasRelatedWork W1958822672 @default.
• W2073058993 hasRelatedWork W1982923842 @default.
• W2073058993 hasRelatedWork W2006912073 @default.
• W2073058993 hasRelatedWork W2038319359 @default.
• W2073058993 hasRelatedWork W2050836675 @default.
• W2073058993 hasRelatedWork W2323402917 @default.
• W2073058993 hasRelatedWork W2411203426 @default.
• W2073058993 hasRelatedWork W2981645413 @default.
• W2073058993 hasRelatedWork W4290310377 @default.
• W2073058993 hasVolume "357" @default.
• W2073058993 isParatext "false" @default.
• W2073058993 isRetracted "false" @default.
• W2073058993 magId "2073058993" @default.
• W2073058993 workType "article" @default.