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

Year Number of Results
1978 1
1994 2
1998 1
1999 1
2000 1
2004 1
2006 1
2007 2
2008 1
2009 1
2010 1
2011 2
2012 1
2013 1
2014 2
2015 2
2016 1
2019 5
2020 3
2021 2
2022 2
2023 0

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32 results

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Page 1
Mucolipidoses Overview: Past, Present, and Future.
Khan SA, Tomatsu SC. Khan SA, et al. Int J Mol Sci. 2020 Sep 17;21(18):6812. doi: 10.3390/ijms21186812. Int J Mol Sci. 2020. PMID: 32957425 Free PMC article. Review.
Clinically, ML II and ML III exhibit quite similar manifestations to mucopolysaccharidoses (MPSs), including specific skeletal deformities known as dysostosis multiplex and gingival hyperplasia. The life expectancy is less than 10 years in the severe type, an …
Clinically, ML II and ML III exhibit quite similar manifestations to mucopolysaccharidoses (MPSs), including specific skeletal deform …
Mucopolysaccharidosis type I.
Wraith JE, Jones S. Wraith JE, et al. Pediatr Endocrinol Rev. 2014 Sep;12 Suppl 1:102-6. Pediatr Endocrinol Rev. 2014. PMID: 25345091 Review.
Mucopolysaccharidosis type I (MPS I) is caused by a deficiency of the lysosomal hydrolase a-L-Iduronidase leading to accumulation of the GAGs, dermatan sulfate, and heparan sulphate, The disease spectrum includes a disorder with severe involvement and CNS disease Hu …
Mucopolysaccharidosis type I (MPS I) is caused by a deficiency of the lysosomal hydrolase a-L-Iduronidase leading to accumulat …
Mucopolysaccharidosis Type VI, an Updated Overview of the Disease.
D'Avanzo F, Zanetti A, De Filippis C, Tomanin R. D'Avanzo F, et al. Int J Mol Sci. 2021 Dec 15;22(24):13456. doi: 10.3390/ijms222413456. Int J Mol Sci. 2021. PMID: 34948256 Free PMC article. Review.
Mucopolysaccharidosis type VI, or Maroteaux-Lamy syndrome, is a rare, autosomal recessive genetic disease, mainly affecting the pediatric age group. ...The numerous in vitro and in vivo preclinical studies conducted in the last 10-15 years to dissect the dise …
Mucopolysaccharidosis type VI, or Maroteaux-Lamy syndrome, is a rare, autosomal recessive genetic disease, mainly affecting th …
A systematic review of the clinical effectiveness and cost-effectiveness of enzyme replacement therapies for Fabry's disease and mucopolysaccharidosis type 1.
Connock M, Juarez-Garcia A, Frew E, Mans A, Dretzke J, Fry-Smith A, Moore D. Connock M, et al. Health Technol Assess. 2006 Jun;10(20):iii-iv, ix-113. doi: 10.3310/hta10200. Health Technol Assess. 2006. PMID: 16729919 Free article. Review.
OBJECTIVES: To determine the clinical effectiveness and cost-effectiveness of the administration of intravenous enzyme replacement therapy (ERT) to symptomatic patients for the prevention of long-term damage and symptoms in Fabry's disease and in mucopolysaccharidosis t …
OBJECTIVES: To determine the clinical effectiveness and cost-effectiveness of the administration of intravenous enzyme replacement therapy ( …
Cardiac characteristics and natural progression in Taiwanese patients with mucopolysaccharidosis III.
Lin HY, Chen MR, Lin SM, Hung CL, Niu DM, Chang TM, Chuang CK, Lin SP. Lin HY, et al. Orphanet J Rare Dis. 2019 Jun 13;14(1):140. doi: 10.1186/s13023-019-1112-7. Orphanet J Rare Dis. 2019. PMID: 31196149 Free PMC article. Review.
BACKGROUND: Mucopolysaccharidosis type III (MPS III), or Sanfilippo syndrome, is caused by a deficiency in one of the four enzymes involved in the lysosomal degradation of heparan sulfate. ...RESULTS: Echocardiographic examinations (n = 26) revealed that 10 p …
BACKGROUND: Mucopolysaccharidosis type III (MPS III), or Sanfilippo syndrome, is caused by a deficiency in one of the four enz …
Treating lysosomal storage disorders: What have we learnt?
Lachmann RH. Lachmann RH. J Inherit Metab Dis. 2020 Jan;43(1):125-132. doi: 10.1002/jimd.12131. Epub 2019 Jun 26. J Inherit Metab Dis. 2020. PMID: 31140601 Review.
The first enzyme replacement therapy (ERT) for a lysosomal storage disorder (LSD) was approved in 1991 and we now have more than 25 years of experience of treating patients with type 1 Gaucher disease. Because of the remarkable success of this therapy, enormous effort and …
The first enzyme replacement therapy (ERT) for a lysosomal storage disorder (LSD) was approved in 1991 and we now have more than 25 years of …
Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure.
Kuiper GA, Langereis EJ, Breyer S, Carbone M, Castelein RM, Eastwood DM, Garin C, Guffon N, van Hasselt PM, Hensman P, Jones SA, Kenis V, Kruyt M, van der Lee JH, Mackenzie WG, Orchard PJ, Oxborrow N, Parini R, Robinson A, Schubert Hjalmarsson E, White KK, Wijburg FA. Kuiper GA, et al. Orphanet J Rare Dis. 2019 Jan 18;14(1):17. doi: 10.1186/s13023-019-0997-5. Orphanet J Rare Dis. 2019. PMID: 30658664 Free PMC article. Review.
BACKGROUND: In all patients with mucopolysaccharidosis type I (MPS I), skeletal disease (dysostosis multiplex) is a prominent, debilitating, condition related complication that may impact strongly on activities of daily living. ...Subsequently, a modified Delphi pro …
BACKGROUND: In all patients with mucopolysaccharidosis type I (MPS I), skeletal disease (dysostosis multiplex) is a prominent, …
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 …
BACKGROUND: Mucopolysaccharidosis type VI or Maroteaux-Lamy syndrome is a rare genetic disorder caused by the deficiency of ar …
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. ...Given the very low certainty of the evidence, we are uncertain whether at 24 weeks there was a difference betwee …
BACKGROUND: Mucopolysaccharidosis type VI (MPS VI) or Maroteaux-Lamy syndrome is a rare genetic disorder caused by the deficie …
Therapy for lysosomal storage disorders.
Beck M. Beck M. IUBMB Life. 2010 Jan;62(1):33-40. doi: 10.1002/iub.284. IUBMB Life. 2010. PMID: 20014233 Free article. Review.
As orphan drug regulations, however, encouraged development of drugs for these disorders by granting marketing exclusivity for 10 years and other commercial benefits, enzyme replacement therapy became available for lysosomal storage disorders, such as Gaucher disease, Fabr …
As orphan drug regulations, however, encouraged development of drugs for these disorders by granting marketing exclusivity for 10 yea …
32 results