Matches in SemOpenAlex for { <https://semopenalex.org/work/W2796993721> ?p ?o ?g. }
Showing items 1 to 93 of
93
with 100 items per page.
- W2796993721 endingPage "56" @default.
- W2796993721 startingPage "52" @default.
- W2796993721 abstract "Mucopolysaccharidosis type IVB (MPS IVB) is a very rare lysosomal storage disorder characterized by skeletal dysplasia, hearing disorder, and cardiac valvular disease. Herein, we report an extremely rare manifestation of MPS IVB in a 60-year-old female patient who underwent a successful aortic valve replacement. The patient presented with mild coarse facial features, short stature, mild dyspnea, sternal protrusion, mild lumbar hyperlordosis, and waddling gait owing to bilateral femoral head necroses and bilateral arthrosis of the knees. The patient also suffered from dyspnea, NYHA II–III. Echocardiography revealed severe stenosis of a calcified aortic valve (AVA 0.67 cm2, AVAi 0.45 cm2/m2, PG max/mean 130/80 mmHg), left ventricular hypertrophy with predominant septal thickening (18 mm) and mild left ventricle outflow tract obstruction at rest, mild mitral valve regurgitation, and dilated ascending aorta (36 mm, 26.5 mm/m2). Dyspnea resolved after septal myectomy and replacement of the aortic valve with bioprosthesis. Excretion levels and spectrum of glycosaminoglycans (GAGs) in urine were normal in the patient. We confirmed the diagnosis of MPS IVB by identifying decreased beta-galactosidase activity in isolated leukocytes (6 nmol/h/mg; controls 95–272) and by molecular genetic analyses (c.438_440delTCT and c.817_818TG>CT mutations in the GLB1 gene). Primary lysosomal storage of glycosaminoglycans was detected in fibroblasts of the aortic valve. Additional pathologies included valvular fibrosis, calcification, neovascularization, and mild chronic inflammation. In conclusion, the diagnosis of MPS IVB should be considered in older patients with cardiac valvular disease and progressive skeletal abnormality even if urinary excretion levels of GAGs are normal." @default.
- W2796993721 created "2018-04-24" @default.
- W2796993721 creator A5000925269 @default.
- W2796993721 creator A5015666221 @default.
- W2796993721 creator A5029968156 @default.
- W2796993721 creator A5033861784 @default.
- W2796993721 creator A5038285822 @default.
- W2796993721 creator A5043204410 @default.
- W2796993721 creator A5055776726 @default.
- W2796993721 creator A5064226848 @default.
- W2796993721 creator A5066469534 @default.
- W2796993721 creator A5075282771 @default.
- W2796993721 date "2018-07-01" @default.
- W2796993721 modified "2023-10-17" @default.
- W2796993721 title "Late diagnosis of mucopolysaccharidosis type IVB and successful aortic valve replacement in a 60-year-old female patient" @default.
- W2796993721 cites W1973676767 @default.
- W2796993721 cites W1994906099 @default.
- W2796993721 cites W2005464068 @default.
- W2796993721 cites W2010188647 @default.
- W2796993721 cites W2018127169 @default.
- W2796993721 cites W2039383867 @default.
- W2796993721 cites W2043162940 @default.
- W2796993721 cites W2043287908 @default.
- W2796993721 cites W2075517582 @default.
- W2796993721 cites W2130563912 @default.
- W2796993721 cites W2468459194 @default.
- W2796993721 cites W2513119362 @default.
- W2796993721 doi "https://doi.org/10.1016/j.carpath.2018.04.001" @default.
- W2796993721 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/29800929" @default.
- W2796993721 hasPublicationYear "2018" @default.
- W2796993721 type Work @default.
- W2796993721 sameAs 2796993721 @default.
- W2796993721 citedByCount "7" @default.
- W2796993721 countsByYear W27969937212021 @default.
- W2796993721 countsByYear W27969937212022 @default.
- W2796993721 countsByYear W27969937212023 @default.
- W2796993721 crossrefType "journal-article" @default.
- W2796993721 hasAuthorship W2796993721A5000925269 @default.
- W2796993721 hasAuthorship W2796993721A5015666221 @default.
- W2796993721 hasAuthorship W2796993721A5029968156 @default.
- W2796993721 hasAuthorship W2796993721A5033861784 @default.
- W2796993721 hasAuthorship W2796993721A5038285822 @default.
- W2796993721 hasAuthorship W2796993721A5043204410 @default.
- W2796993721 hasAuthorship W2796993721A5055776726 @default.
- W2796993721 hasAuthorship W2796993721A5064226848 @default.
- W2796993721 hasAuthorship W2796993721A5066469534 @default.
- W2796993721 hasAuthorship W2796993721A5075282771 @default.
- W2796993721 hasConcept C126322002 @default.
- W2796993721 hasConcept C141071460 @default.
- W2796993721 hasConcept C164705383 @default.
- W2796993721 hasConcept C2776570981 @default.
- W2796993721 hasConcept C2778264360 @default.
- W2796993721 hasConcept C2779134260 @default.
- W2796993721 hasConcept C2779416428 @default.
- W2796993721 hasConcept C2780007028 @default.
- W2796993721 hasConcept C2780714102 @default.
- W2796993721 hasConcept C2781414266 @default.
- W2796993721 hasConcept C71924100 @default.
- W2796993721 hasConceptScore W2796993721C126322002 @default.
- W2796993721 hasConceptScore W2796993721C141071460 @default.
- W2796993721 hasConceptScore W2796993721C164705383 @default.
- W2796993721 hasConceptScore W2796993721C2776570981 @default.
- W2796993721 hasConceptScore W2796993721C2778264360 @default.
- W2796993721 hasConceptScore W2796993721C2779134260 @default.
- W2796993721 hasConceptScore W2796993721C2779416428 @default.
- W2796993721 hasConceptScore W2796993721C2780007028 @default.
- W2796993721 hasConceptScore W2796993721C2780714102 @default.
- W2796993721 hasConceptScore W2796993721C2781414266 @default.
- W2796993721 hasConceptScore W2796993721C71924100 @default.
- W2796993721 hasFunder F4320311419 @default.
- W2796993721 hasFunder F4320321005 @default.
- W2796993721 hasFunder F4320335322 @default.
- W2796993721 hasLocation W27969937211 @default.
- W2796993721 hasLocation W27969937212 @default.
- W2796993721 hasOpenAccess W2796993721 @default.
- W2796993721 hasPrimaryLocation W27969937211 @default.
- W2796993721 hasRelatedWork W1983749074 @default.
- W2796993721 hasRelatedWork W2062431605 @default.
- W2796993721 hasRelatedWork W2126728552 @default.
- W2796993721 hasRelatedWork W2548731293 @default.
- W2796993721 hasRelatedWork W2793221628 @default.
- W2796993721 hasRelatedWork W2796993721 @default.
- W2796993721 hasRelatedWork W2910474408 @default.
- W2796993721 hasRelatedWork W2922536977 @default.
- W2796993721 hasRelatedWork W4237895049 @default.
- W2796993721 hasRelatedWork W4250049887 @default.
- W2796993721 hasVolume "35" @default.
- W2796993721 isParatext "false" @default.
- W2796993721 isRetracted "false" @default.
- W2796993721 magId "2796993721" @default.
- W2796993721 workType "article" @default.