Matches in SemOpenAlex for { <https://semopenalex.org/work/W2980380449> ?p ?o ?g. }
Showing items 1 to 71 of
71
with 100 items per page.
- W2980380449 abstract "Background MucopolysaccharidosistypeIV (syndromeMaroto-Lamy) is a rare lysosomalstorage disorder resulting from a deficiency of arylsulfataseB due to mutations in the gene ARSB and accumulation of dermatansulfate in organs and tissues. Clinical phenotype is very variable. Patients usually have short stature, multiplex dysostosism, facial dysmorphism, corneal clouding, cardiovascular abnormalities and cervical myelopathy. Methods 117 patient with various types of mucopolysaccharidosisis observed in our clinic, 8 patients with mucopolysaccharidosistype VI. The average age of diagnostic of MPS VI in this group patients was 65.43±14,64 months (5 years and 5 months). Results and discussion We evaluated the level of N-terminal fragment of its prohormone(NT-proBNP) in 30 patients with various types of MPS (23 boys and 7 girls). The reference values for boys was ≤ 62 PG/ml for girls - ≤ 83 PG/ml, mean level of NT-proBNP- 81,63±8,90 (24,53–216,0) PG/ml. the Most frequent, in 66.6% of cases, high level of NT-proBNP- 144.7±42,6 (102,1–187,3) PG/ml, was identified in children with Maroto- Lamysyndrome. We observed 8 children with MPS VI, all patients had valvularheart disease. Hypertrophic cardiomyopathy was find in 5 children, pulmonary hypertensionwas diagnosed in 3 patients. Most often, heart failure we have found in patients with Maroto-Lamysyndrome. Patients with MPS VI is progressive heart disease, which is the most cause of death. Heart failure diagnostic in the initial stages is very important for adequate therapy of hemodynamics disorder and prevent its further progression of cardiovascular problems. NT-proBNPis cardiac biomarker for heart failure management. NT-proBNPis a one of the most predictors of prognosis HF, it help to identify high-risk patients who need cardiologic monitoring and more effective therapy." @default.
- W2980380449 created "2019-10-25" @default.
- W2980380449 creator A5000934342 @default.
- W2980380449 creator A5037186190 @default.
- W2980380449 creator A5047250300 @default.
- W2980380449 creator A5077284666 @default.
- W2980380449 creator A5088740796 @default.
- W2980380449 creator A5091389868 @default.
- W2980380449 date "2019-06-01" @default.
- W2980380449 modified "2023-09-25" @default.
- W2980380449 title "P44 Heart pathology in patients with syndrome maroto-lamy" @default.
- W2980380449 doi "https://doi.org/10.1136/archdischild-2019-epa.399" @default.
- W2980380449 hasPublicationYear "2019" @default.
- W2980380449 type Work @default.
- W2980380449 sameAs 2980380449 @default.
- W2980380449 citedByCount "0" @default.
- W2980380449 crossrefType "proceedings-article" @default.
- W2980380449 hasAuthorship W2980380449A5000934342 @default.
- W2980380449 hasAuthorship W2980380449A5037186190 @default.
- W2980380449 hasAuthorship W2980380449A5047250300 @default.
- W2980380449 hasAuthorship W2980380449A5077284666 @default.
- W2980380449 hasAuthorship W2980380449A5088740796 @default.
- W2980380449 hasAuthorship W2980380449A5091389868 @default.
- W2980380449 hasBestOaLocation W29803804491 @default.
- W2980380449 hasConcept C126322002 @default.
- W2980380449 hasConcept C164705383 @default.
- W2980380449 hasConcept C187212893 @default.
- W2980380449 hasConcept C2777871287 @default.
- W2980380449 hasConcept C2778198053 @default.
- W2980380449 hasConcept C2778797674 @default.
- W2980380449 hasConcept C2779134260 @default.
- W2980380449 hasConcept C2780074459 @default.
- W2980380449 hasConcept C71924100 @default.
- W2980380449 hasConcept C90924648 @default.
- W2980380449 hasConceptScore W2980380449C126322002 @default.
- W2980380449 hasConceptScore W2980380449C164705383 @default.
- W2980380449 hasConceptScore W2980380449C187212893 @default.
- W2980380449 hasConceptScore W2980380449C2777871287 @default.
- W2980380449 hasConceptScore W2980380449C2778198053 @default.
- W2980380449 hasConceptScore W2980380449C2778797674 @default.
- W2980380449 hasConceptScore W2980380449C2779134260 @default.
- W2980380449 hasConceptScore W2980380449C2780074459 @default.
- W2980380449 hasConceptScore W2980380449C71924100 @default.
- W2980380449 hasConceptScore W2980380449C90924648 @default.
- W2980380449 hasLocation W29803804491 @default.
- W2980380449 hasOpenAccess W2980380449 @default.
- W2980380449 hasPrimaryLocation W29803804491 @default.
- W2980380449 hasRelatedWork W12057698 @default.
- W2980380449 hasRelatedWork W1996184451 @default.
- W2980380449 hasRelatedWork W2075446425 @default.
- W2980380449 hasRelatedWork W2367473889 @default.
- W2980380449 hasRelatedWork W2385757865 @default.
- W2980380449 hasRelatedWork W2401722263 @default.
- W2980380449 hasRelatedWork W2550176330 @default.
- W2980380449 hasRelatedWork W2742885403 @default.
- W2980380449 hasRelatedWork W2788919079 @default.
- W2980380449 hasRelatedWork W2883504800 @default.
- W2980380449 hasRelatedWork W2909987844 @default.
- W2980380449 hasRelatedWork W2950416398 @default.
- W2980380449 hasRelatedWork W2953064214 @default.
- W2980380449 hasRelatedWork W3042233610 @default.
- W2980380449 hasRelatedWork W3046340234 @default.
- W2980380449 hasRelatedWork W3091274754 @default.
- W2980380449 hasRelatedWork W3097128386 @default.
- W2980380449 hasRelatedWork W3143115108 @default.
- W2980380449 hasRelatedWork W2100045714 @default.
- W2980380449 hasRelatedWork W2188806686 @default.
- W2980380449 isParatext "false" @default.
- W2980380449 isRetracted "false" @default.
- W2980380449 magId "2980380449" @default.
- W2980380449 workType "article" @default.