FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2146765224> ?p ?o ?g. }

• W2146765224 endingPage "322" @default.
• W2146765224 startingPage "316" @default.
• W2146765224 abstract "Aim: To assess the natural history and impact of the secondary bone disease observed in patients with mucolipidosis (ML) II and III. Methods: Affected children and adults were ascertained from clinical genetics units around Australia and New Zealand. Diagnoses were confirmed by the National Referral Laboratory in Adelaide. The study encompassed all patients ascertained between 1975 and 2005. Data focussing on biochemical parameters at diagnosis, and longitudinal radiographic findings were sought for each patient. Where feasible, patients underwent clinical review and examination. Examinations included skeletal survey, bone densitometry, and measurement of serum and urine markers of bone metabolism. In a subset of patients, functional assessment using the Pediatric Evaluation and Disability Inventory (PEDI) and molecular analysis of GNPTAB were performed. Results: Twenty‐five patients with mucolipidosis were ascertained over a 30‐year period. Morbidity and functional outcomes on living patients were described. Serum calcium and phosphate were normal. All, but one patient, had normal alkaline phosphatase. Serum osteocalcin and urine deoxypyridinoline/creatinine were elevated. Two radiological patterns were observed (i) transient neonatal hyperparathyroidism in infants with ML II and (ii) progressive osteodystrophy in patients with ML intermediate and ML III. Molecular analyses of GNPTAB in nine subjects are reported. Conclusion: ML is characterised by a progressive bone and mineral disorder which we describe as the ‘osteodystrophy of mucolipidosis’. The clinical and radiographic features of this osteodystrophy are consistent with a syndrome of ‘pseudohyperparathyroidism’. Much of the progressive skeletal and joint pathology is attributable to this bone disorder." @default.
• W2146765224 created "2016-06-24" @default.
• W2146765224 creator A5000857707 @default.
• W2146765224 creator A5005918886 @default.
• W2146765224 creator A5014079780 @default.
• W2146765224 creator A5022450994 @default.
• W2146765224 creator A5027006350 @default.
• W2146765224 creator A5032447674 @default.
• W2146765224 creator A5043905849 @default.
• W2146765224 creator A5053659589 @default.
• W2146765224 creator A5054148429 @default.
• W2146765224 creator A5080714124 @default.
• W2146765224 creator A5086284348 @default.
• W2146765224 creator A5089384499 @default.
• W2146765224 creator A5091068749 @default.
• W2146765224 date "2010-06-01" @default.
• W2146765224 modified "2023-10-16" @default.
• W2146765224 title "The natural history and osteodystrophy of mucolipidosis types II and III" @default.
• W2146765224 cites W1559147139 @default.
• W2146765224 cites W1965692869 @default.
• W2146765224 cites W1969509583 @default.
• W2146765224 cites W1976360222 @default.
• W2146765224 cites W1977346736 @default.
• W2146765224 cites W1986975365 @default.
• W2146765224 cites W1991302961 @default.
• W2146765224 cites W1992181552 @default.
• W2146765224 cites W1992758078 @default.
• W2146765224 cites W1995360101 @default.
• W2146765224 cites W2003346910 @default.
• W2146765224 cites W2048567829 @default.
• W2146765224 cites W2054847418 @default.
• W2146765224 cites W2068626430 @default.
• W2146765224 cites W2078578885 @default.
• W2146765224 cites W2082292822 @default.
• W2146765224 cites W2086738913 @default.
• W2146765224 cites W2092472776 @default.
• W2146765224 cites W2093722439 @default.
• W2146765224 cites W2094013274 @default.
• W2146765224 cites W2112424491 @default.
• W2146765224 cites W2122947761 @default.
• W2146765224 cites W2124183159 @default.
• W2146765224 cites W2139871660 @default.
• W2146765224 cites W2157051639 @default.
• W2146765224 cites W2160950479 @default.
• W2146765224 cites W2319906769 @default.
• W2146765224 cites W2335275832 @default.
• W2146765224 cites W36985821 @default.
• W2146765224 doi "https://doi.org/10.1111/j.1440-1754.2010.01715.x" @default.
• W2146765224 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4188554" @default.
• W2146765224 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/20367762" @default.
• W2146765224 hasPublicationYear "2010" @default.
• W2146765224 type Work @default.
• W2146765224 sameAs 2146765224 @default.
• W2146765224 citedByCount "36" @default.
• W2146765224 countsByYear W21467652242012 @default.
• W2146765224 countsByYear W21467652242013 @default.
• W2146765224 countsByYear W21467652242014 @default.
• W2146765224 countsByYear W21467652242015 @default.
• W2146765224 countsByYear W21467652242016 @default.
• W2146765224 countsByYear W21467652242017 @default.
• W2146765224 countsByYear W21467652242018 @default.
• W2146765224 countsByYear W21467652242019 @default.
• W2146765224 countsByYear W21467652242020 @default.
• W2146765224 countsByYear W21467652242021 @default.
• W2146765224 countsByYear W21467652242022 @default.
• W2146765224 countsByYear W21467652242023 @default.
• W2146765224 crossrefType "journal-article" @default.
• W2146765224 hasAuthorship W2146765224A5000857707 @default.
• W2146765224 hasAuthorship W2146765224A5005918886 @default.
• W2146765224 hasAuthorship W2146765224A5014079780 @default.
• W2146765224 hasAuthorship W2146765224A5022450994 @default.
• W2146765224 hasAuthorship W2146765224A5027006350 @default.
• W2146765224 hasAuthorship W2146765224A5032447674 @default.
• W2146765224 hasAuthorship W2146765224A5043905849 @default.
• W2146765224 hasAuthorship W2146765224A5053659589 @default.
• W2146765224 hasAuthorship W2146765224A5054148429 @default.
• W2146765224 hasAuthorship W2146765224A5080714124 @default.
• W2146765224 hasAuthorship W2146765224A5086284348 @default.
• W2146765224 hasAuthorship W2146765224A5089384499 @default.
• W2146765224 hasAuthorship W2146765224A5091068749 @default.
• W2146765224 hasBestOaLocation W21467652242 @default.
• W2146765224 hasConcept C126322002 @default.
• W2146765224 hasConcept C131075544 @default.
• W2146765224 hasConcept C142724271 @default.
• W2146765224 hasConcept C160160445 @default.
• W2146765224 hasConcept C170033053 @default.
• W2146765224 hasConcept C181199279 @default.
• W2146765224 hasConcept C185592680 @default.
• W2146765224 hasConcept C187212893 @default.
• W2146765224 hasConcept C2776699218 @default.
• W2146765224 hasConcept C2778471162 @default.
• W2146765224 hasConcept C2778653478 @default.
• W2146765224 hasConcept C2780306776 @default.
• W2146765224 hasConcept C2780787237 @default.
• W2146765224 hasConcept C2780905385 @default.
• W2146765224 hasConcept C2781000923 @default.
• W2146765224 hasConcept C55493867 @default.
• W2146765224 hasConcept C71924100 @default.

• next