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Year Number of Results
2013 1
2016 1
2018 1
2019 1
2020 1
2021 3
2022 3
2023 7
2024 2

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16 results

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Page 1
Burden and Treatment of Achondroplasia: A Systematic Literature Review.
Murton MC, Drane ELA, Goff-Leggett DM, Shediac R, O'Hara J, Irving M, Butt TJ. Murton MC, et al. Adv Ther. 2023 Sep;40(9):3639-3680. doi: 10.1007/s12325-023-02549-3. Epub 2023 Jun 29. Adv Ther. 2023. PMID: 37382866 Free PMC article. Review.
BACKGROUND: Achondroplasia is the most common form of skeletal dysplasia. Recent advances in therapeutic options have highlighted the need for understanding the burden and treatment landscape of the condition. ...
BACKGROUND: Achondroplasia is the most common form of skeletal dysplasia. Recent advances in therapeutic options have highligh …
Should we offer prenatal exome sequencing for intrauterine growth restriction or short long bones? A systematic review and meta-analysis.
Mone F, Mellis R, Gabriel H, Baptiste C, Giordano J, Wapner R, Chitty LS. Mone F, et al. Am J Obstet Gynecol. 2023 Apr;228(4):409-417.e4. doi: 10.1016/j.ajog.2022.09.045. Epub 2022 Oct 7. Am J Obstet Gynecol. 2023. PMID: 36209938 Free article. Review.
Of the 37 short long bone cases with a diagnosis, 32 had a skeletal dysplasia, with thanatophoric dysplasia and osteogenesis imperfecta being the most common (both 21.6% [n=8/37]). ...
Of the 37 short long bone cases with a diagnosis, 32 had a skeletal dysplasia, with thanatophoric dysplasia and osteogenesis i …
A Chinese case of CHST3-related skeletal dysplasia and a systematic review.
Liang H, Qi W, Jin C, Pang Q, Cui L, Jiang Y, Wang O, Li M, Xing X, Liu W, Xia W. Liang H, et al. Endocrine. 2023 Jun;80(3):658-668. doi: 10.1007/s12020-023-03303-z. Epub 2023 Feb 2. Endocrine. 2023. PMID: 36729370
The patients and five age-matched healthy boys accepted high-resolution peripheral quantitative computed tomography evaluation. All CHST3-related skeletal dysplasia cases from PubMed and Embase were collected and summarized. ...CONCLUSION: Progressive joint pain and …
The patients and five age-matched healthy boys accepted high-resolution peripheral quantitative computed tomography evaluation. All CHST3-re …
A scoping review of nutrition issues and management strategies in individuals with skeletal dysplasia.
Billich N, O'Brien K, Fredwall SO, Lee M, Savarirayan R, Davidson ZE. Billich N, et al. Genet Med. 2023 Oct;25(10):100920. doi: 10.1016/j.gim.2023.100920. Epub 2023 Jun 14. Genet Med. 2023. PMID: 37330695
PURPOSE: Skeletal dysplasia are heterogeneous conditions affecting the skeleton. ...CONCLUSION: Nutrition-related comorbidities are documented in skeletal dysplasia; yet, evidence to guide management is scarce. Evidence describing nutrition in rarer …
PURPOSE: Skeletal dysplasia are heterogeneous conditions affecting the skeleton. ...CONCLUSION: Nutrition-related comorbiditie …
Midtrimester isolated short femur and perinatal outcomes: A systematic review and meta-analysis.
D'Ambrosio V, Vena F, Marchetti C, Di Mascio D, Perrone S, Boccherini C, Pizzuti A, Benedetti Panici P, Giancotti A. D'Ambrosio V, et al. Acta Obstet Gynecol Scand. 2019 Jan;98(1):11-17. doi: 10.1111/aogs.13470. Epub 2018 Oct 31. Acta Obstet Gynecol Scand. 2019. PMID: 30252939 Free article.
INTRODUCTION: Fetal femur length below the expected value has been described as a marker of aneuploidy, skeletal dysplasia, intrauterine growth restriction and small-for-gestational-age neonate. ...
INTRODUCTION: Fetal femur length below the expected value has been described as a marker of aneuploidy, skeletal dysplasia, in …
How pain affect real life of children and adults with achondroplasia: A systematic review.
Onesimo R, Sforza E, Bedeschi MF, Leoni C, Giorgio V, Rigante D, De Rose C, Kuczynska EM, Romeo DM, Palmacci O, Massimi L, Porro M, Gonfiantini MV, Selicorni A, Allegri A, Maghnie M, Zampino G. Onesimo R, et al. Eur J Med Genet. 2023 Nov;66(11):104850. doi: 10.1016/j.ejmg.2023.104850. Epub 2023 Sep 26. Eur J Med Genet. 2023. PMID: 37758167 Free article.
Enzyme replacement therapy with galsulfase for mucopolysaccharidosis type VI.
Brunelli MJ, Atallah ÁN, da Silva EM. Brunelli MJ, et al. Cochrane Database Syst Rev. 2016 Mar 4;3:CD009806. doi: 10.1002/14651858.CD009806.pub2. Cochrane Database Syst Rev. 2016. PMID: 26943923 Updated. Review.
The resultant accumulation of dermatan sulphate causes lysosomal damage.The clinical symptoms are related to skeletal dysplasia (i.e. short stature and degenerative joint disease). ...
The resultant accumulation of dermatan sulphate causes lysosomal damage.The clinical symptoms are related to skeletal dysplasia …
Enzyme replacement therapy with galsulfase for mucopolysaccharidosis type VI.
Brunelli MJ, Atallah ÁN, da Silva EM. Brunelli MJ, et al. Cochrane Database Syst Rev. 2021 Sep 17;9(9):CD009806. doi: 10.1002/14651858.CD009806.pub3. Cochrane Database Syst Rev. 2021. PMID: 34533215 Free PMC article. Review.
The resultant accumulation of dermatan sulphate causes lysosomal damage. The clinical symptoms are related to skeletal dysplasia (i.e. short stature and degenerative joint disease). ...
The resultant accumulation of dermatan sulphate causes lysosomal damage. The clinical symptoms are related to skeletal dysplasia …
16 results