Matches in SemOpenAlex for { <https://semopenalex.org/work/W4200604823> ?p ?o ?g. }
- W4200604823 endingPage "430" @default.
- W4200604823 startingPage "422" @default.
- W4200604823 abstract "Costello syndrome (CS) is a neurodevelopmental disorder with a distinctive musculoskeletal phenotype and reduced bone mineral density (BMD) caused by activating de novo mutations in the HRAS gene. Herein, we report the results of a prospective study evaluating the efficacy of a 4-year vitamin D supplementation on BMD and bone health. A cohort of 16 individuals ranging from pediatric to adult age with molecularly confirmed CS underwent dosages of bone metabolism biomarkers (serum/urine) and dual-energy X-ray absorptiometry (DXA) scans to assess bone and body composition parameters. Results were compared to age-matched control groups. At baseline evaluation, BMD was significantly reduced (p ≤ 0.05) compared to controls, as were the 25(OH)vitD levels. Following the 4-year time interval, despite vitamin D supplementation therapy at adequate dosages, no significant improvement in BMD was observed. The present data confirm that 25(OH)vitD and BMD parameters are reduced in CS, and vitamin D supplementation is not sufficient to restore proper BMD values. Based on this evidence, routine monitoring of bone homeostasis to prevent bone deterioration and possible fractures in adult patients with CS is highly recommended." @default.
- W4200604823 created "2021-12-31" @default.
- W4200604823 creator A5014234815 @default.
- W4200604823 creator A5016506437 @default.
- W4200604823 creator A5021346705 @default.
- W4200604823 creator A5039877471 @default.
- W4200604823 creator A5048934823 @default.
- W4200604823 creator A5058658304 @default.
- W4200604823 creator A5067351734 @default.
- W4200604823 creator A5070090047 @default.
- W4200604823 creator A5073695924 @default.
- W4200604823 creator A5078523828 @default.
- W4200604823 creator A5087118071 @default.
- W4200604823 creator A5090841322 @default.
- W4200604823 creator A5091266725 @default.
- W4200604823 creator A5091295790 @default.
- W4200604823 date "2021-12-15" @default.
- W4200604823 modified "2023-10-02" @default.
- W4200604823 title "Bone tissue homeostasis and risk of fractures in Costello syndrome: A 4‐year follow‐up study" @default.
- W4200604823 cites W1760067909 @default.
- W4200604823 cites W1914707730 @default.
- W4200604823 cites W1970694857 @default.
- W4200604823 cites W1977335777 @default.
- W4200604823 cites W1983467513 @default.
- W4200604823 cites W1989981922 @default.
- W4200604823 cites W1991114147 @default.
- W4200604823 cites W1996461969 @default.
- W4200604823 cites W2004774286 @default.
- W4200604823 cites W2009029265 @default.
- W4200604823 cites W2021308032 @default.
- W4200604823 cites W2021610751 @default.
- W4200604823 cites W2028436700 @default.
- W4200604823 cites W2040261982 @default.
- W4200604823 cites W2044961658 @default.
- W4200604823 cites W2045008926 @default.
- W4200604823 cites W2051946560 @default.
- W4200604823 cites W2052672099 @default.
- W4200604823 cites W2053372607 @default.
- W4200604823 cites W2056064252 @default.
- W4200604823 cites W2058055946 @default.
- W4200604823 cites W2067897112 @default.
- W4200604823 cites W2078104969 @default.
- W4200604823 cites W2081635903 @default.
- W4200604823 cites W2088812303 @default.
- W4200604823 cites W2102667270 @default.
- W4200604823 cites W2110176970 @default.
- W4200604823 cites W2118576106 @default.
- W4200604823 cites W2124216273 @default.
- W4200604823 cites W2132157372 @default.
- W4200604823 cites W2149551358 @default.
- W4200604823 cites W2204540292 @default.
- W4200604823 cites W2318134275 @default.
- W4200604823 cites W2334270262 @default.
- W4200604823 cites W2587945309 @default.
- W4200604823 cites W2604295909 @default.
- W4200604823 cites W2607906940 @default.
- W4200604823 cites W2614458239 @default.
- W4200604823 cites W2621145089 @default.
- W4200604823 cites W2757314768 @default.
- W4200604823 cites W2920941622 @default.
- W4200604823 cites W2953365112 @default.
- W4200604823 cites W3043560905 @default.
- W4200604823 cites W3044381985 @default.
- W4200604823 cites W3110448514 @default.
- W4200604823 cites W4211141844 @default.
- W4200604823 cites W4239612354 @default.
- W4200604823 doi "https://doi.org/10.1002/ajmg.a.62615" @default.
- W4200604823 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34913244" @default.
- W4200604823 hasPublicationYear "2021" @default.
- W4200604823 type Work @default.
- W4200604823 citedByCount "4" @default.
- W4200604823 countsByYear W42006048232022 @default.
- W4200604823 crossrefType "journal-article" @default.
- W4200604823 hasAuthorship W4200604823A5014234815 @default.
- W4200604823 hasAuthorship W4200604823A5016506437 @default.
- W4200604823 hasAuthorship W4200604823A5021346705 @default.
- W4200604823 hasAuthorship W4200604823A5039877471 @default.
- W4200604823 hasAuthorship W4200604823A5048934823 @default.
- W4200604823 hasAuthorship W4200604823A5058658304 @default.
- W4200604823 hasAuthorship W4200604823A5067351734 @default.
- W4200604823 hasAuthorship W4200604823A5070090047 @default.
- W4200604823 hasAuthorship W4200604823A5073695924 @default.
- W4200604823 hasAuthorship W4200604823A5078523828 @default.
- W4200604823 hasAuthorship W4200604823A5087118071 @default.
- W4200604823 hasAuthorship W4200604823A5090841322 @default.
- W4200604823 hasAuthorship W4200604823A5091266725 @default.
- W4200604823 hasAuthorship W4200604823A5091295790 @default.
- W4200604823 hasConcept C124490489 @default.
- W4200604823 hasConcept C126322002 @default.
- W4200604823 hasConcept C126894567 @default.
- W4200604823 hasConcept C134018914 @default.
- W4200604823 hasConcept C162156334 @default.
- W4200604823 hasConcept C170033053 @default.
- W4200604823 hasConcept C187212893 @default.
- W4200604823 hasConcept C2776541429 @default.
- W4200604823 hasConcept C2776886416 @default.
- W4200604823 hasConcept C2779329777 @default.
- W4200604823 hasConcept C63645605 @default.