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

Year Number of Results
1951 1
1966 1
1972 1
1973 3
1975 1
1978 1
1979 1
1983 1
1985 1
1986 1
1991 2
1992 1
1996 1
1998 2
2001 1
2003 2
2004 3
2005 2
2006 1
2007 4
2009 6
2010 2
2011 8
2012 8
2013 7
2014 3
2015 1
2016 4
2017 4
2018 7
2019 7
2020 4
2021 4
2022 4
2023 2
2024 1

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93 results

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Page 1
Mucopolysaccharidosis III: Molecular basis and treatment.
Spahiu L, Behluli E, Peterlin B, Nefic H, Hadziselimovic R, Liehr T, Temaj G. Spahiu L, et al. Pediatr Endocrinol Diabetes Metab. 2021;27(3):201-208. doi: 10.5114/pedm.2021.109270. Pediatr Endocrinol Diabetes Metab. 2021. PMID: 34743503 Free PMC article. Review.
Here we provide an overview on known molecular basis of MPS in general, including enzyme defects and symptoms of MPS; however, the main focus is on MPS type III together with potential and perspective therapy-options....
Here we provide an overview on known molecular basis of MPS in general, including enzyme defects and symptoms of MPS; however, the main focu …
Newborn screening of mucopolysaccharidosis type I.
Burlina AB, Gragnaniello V. Burlina AB, et al. Crit Rev Clin Lab Sci. 2022 Jun;59(4):257-277. doi: 10.1080/10408363.2021.2021846. Epub 2022 Jan 17. Crit Rev Clin Lab Sci. 2022. PMID: 35037566
Mucopolysaccharidosis type I (MPS I), a lysosomal storage disease caused by a deficiency of alpha-L-iduronidase, leads to storage of the glycosaminoglycans, dermatan sulfate and heparan sulfate. Available therapies include enzyme replacement and hematopoietic stem cell tra …
Mucopolysaccharidosis type I (MPS I), a lysosomal storage disease caused by a deficiency of alpha-L-iduronidase, leads to storage of the gly …
Newborn screening in mucopolysaccharidoses.
Donati MA, Pasquini E, Spada M, Polo G, Burlina A. Donati MA, et al. Ital J Pediatr. 2018 Nov 16;44(Suppl 2):126. doi: 10.1186/s13052-018-0552-3. Ital J Pediatr. 2018. PMID: 30442156 Free PMC article. Review.
Newborn screening (NBS) methods and therapeutic options have become increasingly available for mucopolysaccharidoses (MPS), and there is a clear evidence that early intervention significantly improves the outcome. ...The key factors in recommending MPS I for inclusion in N …
Newborn screening (NBS) methods and therapeutic options have become increasingly available for mucopolysaccharidoses (MPS), and there …
First Three Years' Experience of Mucopolysaccharidosis Type-I Newborn Screening in California.
Fillman T, Matteson J, Tang H, Mathur D, Zahedi R, Sen I, Bishop T, Neogi P, Feuchtbaum L, Olney RS, Sciortino S. Fillman T, et al. J Pediatr. 2023 Dec;263:113644. doi: 10.1016/j.jpeds.2023.113644. Epub 2023 Jul 28. J Pediatr. 2023. PMID: 37516270
After tier 2, 146 (0.011%) newborns were screen positive, all of whom were referred to a metabolic Special Care Center for follow-up. After long-term follow-up, 7 cases were resolved as severe MPS I (Hurler syndrome) and 2 cases as attenuated MPS I for an MPS I birth preva …
After tier 2, 146 (0.011%) newborns were screen positive, all of whom were referred to a metabolic Special Care Center for follow-up. …
MPSI Manifestations and Treatment Outcome: Skeletal Focus.
De Ponti G, Donsante S, Frigeni M, Pievani A, Corsi A, Bernardo ME, Riminucci M, Serafini M. De Ponti G, et al. Int J Mol Sci. 2022 Sep 22;23(19):11168. doi: 10.3390/ijms231911168. Int J Mol Sci. 2022. PMID: 36232472 Free PMC article. Review.
This review discusses the pathological and molecular processes leading to impaired endochondral ossification in MPSI patients and the limitations of current therapeutic approaches. Understanding the underlying mechanisms responsible for the skeletal phenotype in MPSI patie …
This review discusses the pathological and molecular processes leading to impaired endochondral ossification in MPSI patients and the limita …
MPS I: Early diagnosis, bone disease and treatment, where are we now?
Kingma SDK, Jonckheere AI. Kingma SDK, et al. J Inherit Metab Dis. 2021 Nov;44(6):1289-1310. doi: 10.1002/jimd.12431. Epub 2021 Sep 15. J Inherit Metab Dis. 2021. PMID: 34480380 Review.
Patients with more attenuated phenotypes are treated with enzyme replacement therapy. There are several challenges to be met in the treatment of MPS I patients. ...The pathophysiological mechanisms behind bone disease are largely unknown, limiting the development of effect …
Patients with more attenuated phenotypes are treated with enzyme replacement therapy. There are several challenges to be met in the t …
Newborn screening of mucopolysaccharidoses: past, present, and future.
Arunkumar N, Langan TJ, Stapleton M, Kubaski F, Mason RW, Singh R, Kobayashi H, Yamaguchi S, Suzuki Y, Orii K, Orii T, Fukao T, Tomatsu S. Arunkumar N, et al. J Hum Genet. 2020 Jul;65(7):557-567. doi: 10.1038/s10038-020-0744-8. Epub 2020 Apr 10. J Hum Genet. 2020. PMID: 32277174 Review.
The screening of quick, cost-effective, sensitive, and specific biomarkers in patients with MPS at birth is important. Rapid newborn diagnosis enables treatments to maximize therapeutic efficacy and to introduce immune tolerance during the neonatal period. ...
The screening of quick, cost-effective, sensitive, and specific biomarkers in patients with MPS at birth is important. Rapid newborn diagnos …
Laronidase treatment of mucopolysaccharidosis I.
Wraith EJ, Hopwood JJ, Fuller M, Meikle PJ, Brooks DA. Wraith EJ, et al. BioDrugs. 2005;19(1):1-7. doi: 10.2165/00063030-200519010-00001. BioDrugs. 2005. PMID: 15691212 Review.
MPS I patients can present within a diverse clinical spectrum, ranging from classical Hurler syndrome to attenuated Scheie syndrome. Laronidase (Aldurazyme) enzyme replacement therapy has been developed as a treatment strategy for MPS I patients and has been approved for c …
MPS I patients can present within a diverse clinical spectrum, ranging from classical Hurler syndrome to attenuated Scheie syndrome. Laronid …
Newborn screening for lysosomal storage disorders.
Nakamura K, Hattori K, Endo F. Nakamura K, et al. Am J Med Genet C Semin Med Genet. 2011 Feb 15;157C(1):63-71. doi: 10.1002/ajmg.c.30291. Epub 2011 Feb 10. Am J Med Genet C Semin Med Genet. 2011. PMID: 21312327 Review.
Interest for inclusion of these disorders in newborn screening programs derives from the availability of effective therapy in the form of enzyme replacement or substrate reduction therapy and bone marrow transplant that may improve long-term outcome especially if st …
Interest for inclusion of these disorders in newborn screening programs derives from the availability of effective therapy in the for …
93 results