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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2006 1
2007 1
2011 2
2012 1
2013 2
2014 5
2015 3
2016 3
2017 6
2018 4
2019 5
2020 4
2021 4
2022 3
2023 2
2024 1

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43 results

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Page 1
Lysosomal storage disease as an etiology of nonimmune hydrops.
Gimovsky AC, Luzi P, Berghella V. Gimovsky AC, et al. Am J Obstet Gynecol. 2015 Mar;212(3):281-90. doi: 10.1016/j.ajog.2014.10.007. Epub 2014 Oct 8. Am J Obstet Gynecol. 2015. PMID: 25305402 Review.
The 3 most common LSDs identified in cases of NIH, in order of decreasing incidence, were Mucopolysaccharidosis type VII, Gaucher's disease, and GM1-gangliosidosis. ...
The 3 most common LSDs identified in cases of NIH, in order of decreasing incidence, were Mucopolysaccharidosis type VII, Gaucher's d …
Global epidemiology of mucopolysaccharidosis type III (Sanfilippo syndrome): an updated systematic review and meta-analysis.
Kong W, Wu S, Zhang J, Lu C, Ding Y, Meng Y. Kong W, et al. J Pediatr Endocrinol Metab. 2021 Jul 19;34(10):1225-1235. doi: 10.1515/jpem-2020-0742. Print 2021 Oct 26. J Pediatr Endocrinol Metab. 2021. PMID: 34271605
To provide a systematic review and meta-analysis of birth prevalence of mucopolysaccharidosis III in multiple countries. METHODS: MEDLINE and EMBASE databases were searched for original research articles on the epidemiology of mucopolysaccharidosis III from inceptio …
To provide a systematic review and meta-analysis of birth prevalence of mucopolysaccharidosis III in multiple countries. METHODS: MED …
Presentation and aetiology of paediatric trigger finger: a systematic review.
Wong AL, Wong MJ, Parker R, Wheelock ME. Wong AL, et al. J Hand Surg Eur Vol. 2022 Feb;47(2):192-196. doi: 10.1177/17531934211035642. Epub 2021 Oct 5. J Hand Surg Eur Vol. 2022. PMID: 34610771 Free PMC article.
Fifty-five patients (29%) had an underlying condition, such as mucopolysaccharidosis; these cases appeared to be associated with multiple or bilateral trigger fingers or with carpal tunnel syndrome. All patients with mucopolysaccharidosis were treated surgically. Co …
Fifty-five patients (29%) had an underlying condition, such as mucopolysaccharidosis; these cases appeared to be associated with mult …
Treatment of mucopolysaccharidosis type II (Hunter syndrome): results from a systematic evidence review.
Bradley LA, Haddow HRM, Palomaki GE. Bradley LA, et al. Genet Med. 2017 Nov;19(11):1187-1201. doi: 10.1038/gim.2017.30. Epub 2017 May 18. Genet Med. 2017. PMID: 28640238 Free article. Review.
PurposeA pilot systematic evidence review to establish methodology utility in rare genetic diseases, support clinical recommendations, and identify important knowledge gaps.MethodsBroad-based published/gray-literature searches through December 2015 for studies of males with confi …
PurposeA pilot systematic evidence review to establish methodology utility in rare genetic diseases, support clinical recommendations, and i …
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.
BACKGROUND: Mucopolysaccharidosis type VI or Maroteaux-Lamy syndrome is a rare genetic disorder caused by the deficiency of arylsulphatase B. ...Clinical manifestation is typically by two or three years of age; however, slowly progressive cases may not present until adulth …
BACKGROUND: Mucopolysaccharidosis type VI or Maroteaux-Lamy syndrome is a rare genetic disorder caused by the deficiency of arylsulph …
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.
BACKGROUND: Mucopolysaccharidosis type VI (MPS VI) or Maroteaux-Lamy syndrome is a rare genetic disorder caused by the deficiency of arylsulphatase B. ...
BACKGROUND: Mucopolysaccharidosis type VI (MPS VI) or Maroteaux-Lamy syndrome is a rare genetic disorder caused by the deficiency of …
Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome).
da Silva EM, Strufaldi MW, Andriolo RB, Silva LA. da Silva EM, et al. Cochrane Database Syst Rev. 2016 Feb 5;2(2):CD008185. doi: 10.1002/14651858.CD008185.pub4. Cochrane Database Syst Rev. 2016. PMID: 26845288 Free PMC article. Review.
BACKGROUND: Mucopolysaccharidosis II, also known as Hunter syndrome, is a rare, X-linked disease caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase, which catalyses a step in the catabolism of glycosaminoglycans. ...Enzyme replacement therapy with intrave …
BACKGROUND: Mucopolysaccharidosis II, also known as Hunter syndrome, is a rare, X-linked disease caused by a deficiency of the lysoso …
43 results