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

Year Number of Results
1966 1
1968 1
1969 1
1973 1
1976 4
1977 2
1979 1
1980 1
1981 1
1983 1
1984 3
1985 1
1987 1
1989 2
1991 1
1993 1
1994 2
1995 4
1996 3
1997 2
1998 1
1999 1
2001 1
2003 2
2004 3
2005 2
2006 6
2007 3
2008 2
2009 8
2010 3
2011 3
2012 3
2013 6
2014 7
2015 4
2016 8
2017 9
2018 11
2019 10
2020 11
2021 4
2022 6
2023 6
2024 0

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137 results

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Page 1
Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment.
D'Avanzo F, Rigon L, Zanetti A, Tomanin R. D'Avanzo F, et al. Int J Mol Sci. 2020 Feb 13;21(4):1258. doi: 10.3390/ijms21041258. Int J Mol Sci. 2020. PMID: 32070051 Free PMC article. Review.
Since then, about one hundred years have passed and Hunter syndrome, although at first neglected for a few decades and afterwards mistaken for a long time for the similar disorder Hurler syndrome, has been clearly distinguished as a specific disease since 1978, when …
Since then, about one hundred years have passed and Hunter syndrome, although at first neglected for a few decades and afterwards mistaken f …
Metabolic and autoimmune syndromes.
Nannini V. Nannini V. Atlas Oral Maxillofac Surg Clin North Am. 2014 Sep;22(2):123-34. doi: 10.1016/j.cxom.2014.05.005. Atlas Oral Maxillofac Surg Clin North Am. 2014. PMID: 25171994 Review. No abstract available.
Mucopolysaccharidoses and mucolipidoses.
Wraith JE. Wraith JE. Handb Clin Neurol. 2013;113:1723-9. doi: 10.1016/B978-0-444-59565-2.00042-3. Handb Clin Neurol. 2013. PMID: 23622395 Review.
In addition, hematopoietic stem cell transplantation (HSCT) can improve outcome in carefully selected patients with MPS (especially MPS IH, Hurler syndrome), but this procedure is associated with significant risk. ...
In addition, hematopoietic stem cell transplantation (HSCT) can improve outcome in carefully selected patients with MPS (especially MPS IH, …
Neurobehavioral phenotypes of neuronopathic mucopolysaccharidoses.
Barone R, Pellico A, Pittalà A, Gasperini S. Barone R, et al. Ital J Pediatr. 2018 Nov 16;44(Suppl 2):121. doi: 10.1186/s13052-018-0561-2. Ital J Pediatr. 2018. PMID: 30442188 Free PMC article. Review.
Neuronopathic MPS such as MPS IH, MPS II, MPS IIIA-D, and MPS VII are characterized by neurocognitive regression. In severe MPS I (MPS IH, or Hurler syndrome) initial developmental trajectory is usually unremarkable but cognitive development shows a plateau by 2 to …
Neuronopathic MPS such as MPS IH, MPS II, MPS IIIA-D, and MPS VII are characterized by neurocognitive regression. In severe MPS I (MPS IH, o …
Mucopolysaccharidosis Type I: Current Treatments, Limitations, and Prospects for Improvement.
Hampe CS, Wesley J, Lund TC, Orchard PJ, Polgreen LE, Eisengart JB, McLoon LK, Cureoglu S, Schachern P, McIvor RS. Hampe CS, et al. Biomolecules. 2021 Jan 29;11(2):189. doi: 10.3390/biom11020189. Biomolecules. 2021. PMID: 33572941 Free PMC article. Review.
Lack of the enzyme leads to pathologic accumulation of undegraded HS and DS with subsequent disease manifestations in multiple organs. The disease can be divided into severe (Hurler syndrome) and attenuated (Hurler-Scheie, Scheie) forms. Currently approved treatment …
Lack of the enzyme leads to pathologic accumulation of undegraded HS and DS with subsequent disease manifestations in multiple organs. The d …
Rejecting Gargoylism: Reflections on the term and its relationship to Hurler syndrome.
Abbott MA, Diebold WJ, Rosengren SS. Abbott MA, et al. Am J Med Genet C Semin Med Genet. 2021 Jun;187(2):219-223. doi: 10.1002/ajmg.c.31903. Epub 2021 May 13. Am J Med Genet C Semin Med Genet. 2021. PMID: 33982836
Just over a century ago, Dr. Gertrud Hurler described what is now commonly called Hurler syndrome. This rare inherited condition became known by terms describing its cardinal physical signs; the eponymous name was not proposed. ...We propose that the film The Hunchb …
Just over a century ago, Dr. Gertrud Hurler described what is now commonly called Hurler syndrome. This rare inherited conditi …
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.
Mucopolysaccharidoses (MPS) are a subtype of lysosomal storage disorders (LSDs) characterized by the deficiency of the enzyme involved in the breakdown of glycosaminoglycans (GAGs). Mucopolysaccharidosis type I (MPS I, Hurler Syndrome) was endorsed by the U.S. Secre …
Mucopolysaccharidoses (MPS) are a subtype of lysosomal storage disorders (LSDs) characterized by the deficiency of the enzyme involved in th …
Haematopoietic stem cell transplantation in inborn errors of metabolism.
Chiesa R, Wynn RF, Veys P. Chiesa R, et al. Curr Opin Hematol. 2016 Nov;23(6):530-535. doi: 10.1097/MOH.0000000000000289. Curr Opin Hematol. 2016. PMID: 27662232 Review.
RECENT FINDINGS: Early diagnosis and immediate referral to an IEM specialist is of paramount importance to improve clinical outcome: patients who are transplanted early or in their presymptomatic phase generally achieve better correction of their somatic symptoms and neurocogniti …
RECENT FINDINGS: Early diagnosis and immediate referral to an IEM specialist is of paramount importance to improve clinical outcome: patient …
The mucopolysaccharidoses and mucolipidoses.
Kelly TE. Kelly TE. Clin Orthop Relat Res. 1976 Jan-Feb;(114):116-33. Clin Orthop Relat Res. 1976. PMID: 131015 Review.
Further characterization requires clinical assessment to determine whether the final diagnosis is the Hurler syndrome, the Scheie syndrome or the Hurler-Scheie compound. ...
Further characterization requires clinical assessment to determine whether the final diagnosis is the Hurler syndrome, the Sch …
Audiometric evaluation in individuals with mucopolysaccharidosis.
Silveira MRMD, Buriti AKL, Martins AM, Gil D, Azevedo MF. Silveira MRMD, et al. Clinics (Sao Paulo). 2018 Dec 3;73:e523. doi: 10.6061/clinics/2018/e523. Clinics (Sao Paulo). 2018. PMID: 30517303 Free PMC article.
METHOD: Fifty-three mucopolysaccharidosis patients were evaluated. The classification consisted of type I (Hurler syndrome, Hurler-Scheie and Scheie syndrome), type II (Hunter syndrome), type III (Sanfilippo syndrome), type IV (Morquio syndrome), and type VI (Marote …
METHOD: Fifty-three mucopolysaccharidosis patients were evaluated. The classification consisted of type I (Hurler syndrome, Hu …
137 results