FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3118366944> ?p ?o ?g. }

• W3118366944 abstract "Abstract Background Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is a rare autosomal recessive lysosomal storage disorder. Up to now, reports on the clinical characteristics of MPS IVA mainly focused on patients with progressive bone dysplasia and multiple organ damage, while the effects of this disorder on neurogenic bladder have not been reported. Therefore, the aim of the present study is to report two cases of nocturnal enuresis finally diagnosed as neurogenic bladder in MPS IVA. Case presentation Both children were characterized by the presence of pectus carinatum, kyphoscoliosis, nocturnal enuresis, urinary incontinence, normal intelligence, and loss of strength in the legs, diagnosed as neurogenic bladder in association with MPS IVA through the analysis of the clinical characteristics, enzyme activity and genetic testing. In addition, the terminator codon mutation c.1567T > G (p.X523E) and a novel missense mutation c.575A > G (p.E192G) were found in the coding region of the GALNS gene of the 1 st patient, while the missense mutation c.488C > A (p.P163H) was found in the coding region of the GALNS gene of the 2 nd patient. Conclusions Neurogenic bladder may occur in patients with MPS IVA after spinal cord injury. It is necessary to screen for the diagnosis of MPS IVA in patients with atypical enuresis and skeletal abnormalities through the analysis of the clinical characteristics, enzyme activity and genetic testing." @default.
• W3118366944 created "2021-01-18" @default.
• W3118366944 creator A5000873086 @default.
• W3118366944 creator A5003967203 @default.
• W3118366944 creator A5016965364 @default.
• W3118366944 creator A5045217620 @default.
• W3118366944 creator A5053826724 @default.
• W3118366944 creator A5063985740 @default.
• W3118366944 creator A5080308075 @default.
• W3118366944 date "2021-01-06" @default.
• W3118366944 modified "2023-10-10" @default.
• W3118366944 title "Clinical and genetic characteristics of concomitant Mucopolysaccharidosis type IVA and neurogenic bladder in children: two case reports and literature review" @default.
• W3118366944 cites W1553600343 @default.
• W3118366944 cites W1971882336 @default.
• W3118366944 cites W1979655719 @default.
• W3118366944 cites W2015043581 @default.
• W3118366944 cites W2026588722 @default.
• W3118366944 cites W2040734646 @default.
• W3118366944 cites W2059010588 @default.
• W3118366944 cites W2060591270 @default.
• W3118366944 cites W2089703680 @default.
• W3118366944 cites W2131569033 @default.
• W3118366944 cites W2143929362 @default.
• W3118366944 cites W2144654919 @default.
• W3118366944 cites W2158382378 @default.
• W3118366944 cites W2163306372 @default.
• W3118366944 cites W2395441448 @default.
• W3118366944 cites W2514953815 @default.
• W3118366944 cites W2556384452 @default.
• W3118366944 cites W2558797397 @default.
• W3118366944 cites W2803183799 @default.
• W3118366944 cites W2803315905 @default.
• W3118366944 cites W2888410035 @default.
• W3118366944 cites W2900874464 @default.
• W3118366944 cites W2910912835 @default.
• W3118366944 cites W2914405299 @default.
• W3118366944 cites W2947808138 @default.
• W3118366944 doi "https://doi.org/10.1186/s12887-020-02484-0" @default.
• W3118366944 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7786925" @default.
• W3118366944 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33407246" @default.
• W3118366944 hasPublicationYear "2021" @default.
• W3118366944 type Work @default.
• W3118366944 sameAs 3118366944 @default.
• W3118366944 citedByCount "3" @default.
• W3118366944 countsByYear W31183669442021 @default.
• W3118366944 countsByYear W31183669442022 @default.
• W3118366944 crossrefType "journal-article" @default.
• W3118366944 hasAuthorship W3118366944A5000873086 @default.
• W3118366944 hasAuthorship W3118366944A5003967203 @default.
• W3118366944 hasAuthorship W3118366944A5016965364 @default.
• W3118366944 hasAuthorship W3118366944A5045217620 @default.
• W3118366944 hasAuthorship W3118366944A5053826724 @default.
• W3118366944 hasAuthorship W3118366944A5063985740 @default.
• W3118366944 hasAuthorship W3118366944A5080308075 @default.
• W3118366944 hasBestOaLocation W31183669441 @default.
• W3118366944 hasConcept C104317684 @default.
• W3118366944 hasConcept C126322002 @default.
• W3118366944 hasConcept C126894567 @default.
• W3118366944 hasConcept C141071460 @default.
• W3118366944 hasConcept C142724271 @default.
• W3118366944 hasConcept C187212893 @default.
• W3118366944 hasConcept C2778531004 @default.
• W3118366944 hasConcept C2779134260 @default.
• W3118366944 hasConcept C2779405702 @default.
• W3118366944 hasConcept C2779416428 @default.
• W3118366944 hasConcept C2779969927 @default.
• W3118366944 hasConcept C2780610425 @default.
• W3118366944 hasConcept C2780955175 @default.
• W3118366944 hasConcept C501734568 @default.
• W3118366944 hasConcept C54355233 @default.
• W3118366944 hasConcept C71924100 @default.
• W3118366944 hasConcept C75563809 @default.
• W3118366944 hasConcept C86803240 @default.
• W3118366944 hasConceptScore W3118366944C104317684 @default.
• W3118366944 hasConceptScore W3118366944C126322002 @default.
• W3118366944 hasConceptScore W3118366944C126894567 @default.
• W3118366944 hasConceptScore W3118366944C141071460 @default.
• W3118366944 hasConceptScore W3118366944C142724271 @default.
• W3118366944 hasConceptScore W3118366944C187212893 @default.
• W3118366944 hasConceptScore W3118366944C2778531004 @default.
• W3118366944 hasConceptScore W3118366944C2779134260 @default.
• W3118366944 hasConceptScore W3118366944C2779405702 @default.
• W3118366944 hasConceptScore W3118366944C2779416428 @default.
• W3118366944 hasConceptScore W3118366944C2779969927 @default.
• W3118366944 hasConceptScore W3118366944C2780610425 @default.
• W3118366944 hasConceptScore W3118366944C2780955175 @default.
• W3118366944 hasConceptScore W3118366944C501734568 @default.
• W3118366944 hasConceptScore W3118366944C54355233 @default.
• W3118366944 hasConceptScore W3118366944C71924100 @default.
• W3118366944 hasConceptScore W3118366944C75563809 @default.
• W3118366944 hasConceptScore W3118366944C86803240 @default.
• W3118366944 hasFunder F4320321001 @default.
• W3118366944 hasFunder F4320336024 @default.
• W3118366944 hasFunder F4320338464 @default.
• W3118366944 hasIssue "1" @default.
• W3118366944 hasLocation W31183669441 @default.
• W3118366944 hasLocation W31183669442 @default.
• W3118366944 hasLocation W31183669443 @default.
• W3118366944 hasOpenAccess W3118366944 @default.
• W3118366944 hasPrimaryLocation W31183669441 @default.

• next