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

Year Number of Results
1971 1
1972 3
1973 4
1974 5
1975 8
1976 19
1977 10
1978 15
1979 16
1980 15
1981 9
1982 11
1983 15
1984 15
1985 16
1986 8
1987 3
1988 6
1989 11
1990 6
1991 11
1992 17
1993 12
1994 16
1995 8
1996 10
1997 9
1998 15
1999 12
2000 13
2001 12
2002 25
2003 17
2004 19
2005 28
2006 28
2007 35
2008 28
2009 25
2010 29
2011 47
2012 44
2013 48
2014 45
2015 37
2016 37
2017 42
2018 40
2019 43
2020 40
2021 27
2022 35
2023 32
2024 17

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993 results

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Page 1
Laronidase.
[No authors listed] [No authors listed] 2021 Jun 21. Drugs and Lactation Database (LactMed®) [Internet]. Bethesda (MD): National Institute of Child Health and Human Development; 2006–. 2021 Jun 21. Drugs and Lactation Database (LactMed®) [Internet]. Bethesda (MD): National Institute of Child Health and Human Development; 2006–. PMID: 29999665 Free Books & Documents. Review.
Alpha-L-iduronidase and enzyme replacement therapy for mucopolysaccharidosis I.
Brooks DA. Brooks DA. Expert Opin Biol Ther. 2002 Dec;2(8):967-76. doi: 10.1517/14712598.2.8.967. Expert Opin Biol Ther. 2002. PMID: 12517274 Review.
In the 80 or more years since the discovery of mucopolysaccharidosis I, the molecular defect has been defined, the alpha-L-iduronidase protein purified and characterised, the alpha-L-iduronidase (IDUA) gene cloned, molecular genetic studies performed and expression …
In the 80 or more years since the discovery of mucopolysaccharidosis I, the molecular defect has been defined, the alpha-L-iduronidase …
c.1898C>G/p.Ser633Trp Mutation in Alpha-L-Iduronidase: Clinical and Structural Implications.
Peña-Gomar I, Jiménez-Mariscal JL, Cerón M, Rosas-Trigueros J, Reyes-López CA. Peña-Gomar I, et al. Protein J. 2021 Feb;40(1):68-77. doi: 10.1007/s10930-020-09950-9. Epub 2021 Jan 2. Protein J. 2021. PMID: 33389473
DNA isolated from dried blood spot was used to sequencing of all exons of the IDUA gene from a patient with a clinical phenotype of severe mucopolysaccharidosis type I syndrome. Enzyme activity of alpha-L-iduronidase was quantified by fluorimetric assay. Additionally, a mo …
DNA isolated from dried blood spot was used to sequencing of all exons of the IDUA gene from a patient with a clinical phenotype of severe m …
The clinical spectrum of alpha-L-iduronidase deficiency.
Roubicek M, Gehler J, Spranger J. Roubicek M, et al. Am J Med Genet. 1985 Mar;20(3):471-81. doi: 10.1002/ajmg.1320200308. Am J Med Genet. 1985. PMID: 3922223 Review.
We present five patients with alpha-L-iduronidase deficiency who do not have the typical Hurler or Scheie phenotypes; they are compared to 28 similarly atypical cases from the literature. ...
We present five patients with alpha-L-iduronidase deficiency who do not have the typical Hurler or Scheie phenotypes; they are compar …
Alpha-L-iduronidase (laronidase; aldurazyme).
[No authors listed] [No authors listed] Med Lett Drugs Ther. 2003 Oct 27;45(1168):88. Med Lett Drugs Ther. 2003. PMID: 14576624 No abstract available.
Pseudodeficiency of alpha-iduronidase.
Taylor HA, Thomas GH. Taylor HA, et al. J Inherit Metab Dis. 1993;16(6):1058-9. doi: 10.1007/BF00711533. J Inherit Metab Dis. 1993. PMID: 8127064 No abstract available.
A nonpathologic allele (IW) for low alpha-L-iduronidase enzyme activity vis-a-vis prenatal diagnosis of Hurler syndrome.
Whitley CB, Gorlin RJ, Krivit W. Whitley CB, et al. Am J Med Genet. 1987 Sep;28(1):233-43. doi: 10.1002/ajmg.1320280136. Am J Med Genet. 1987. PMID: 3118714 Review.
We identified a phenotypically normal obligate heterozygote for Hurler syndrome with exceedingly low levels of alpha-L-iduronidase enzyme activity. Subsequent investigation determined that low alpha-L-iduronidase activity was systemic, also characteristic of the sub …
We identified a phenotypically normal obligate heterozygote for Hurler syndrome with exceedingly low levels of alpha-L-iduronidase en …
New Irreversible alpha-l-Iduronidase Inhibitors and Activity-Based Probes.
Artola M, Kuo CL, McMahon SA, Oehler V, Hansen T, van der Lienden M, He X, van den Elst H, Florea BI, Kermode AR, van der Marel GA, Gloster TM, Codée JDC, Overkleeft HS, Aerts JMFG. Artola M, et al. Chemistry. 2018 Dec 17;24(71):19081-19088. doi: 10.1002/chem.201804662. Epub 2018 Nov 26. Chemistry. 2018. PMID: 30307091 Free PMC article.
Direct 3-amino-2-(trifluoromethyl)quinazolin-4(3H)-one-mediated aziridination of l-ido-configured cyclohexene has enabled the synthesis of new covalent inhibitors and ABPs of alpha-l-iduronidase, deficiency of which underlies the lysosomal storage disorder mucopolysacchari …
Direct 3-amino-2-(trifluoromethyl)quinazolin-4(3H)-one-mediated aziridination of l-ido-configured cyclohexene has enabled the synthesis of n …
Mucopolysaccharidoses type I gene therapy.
Hurt SC, Dickson PI, Curiel DT. Hurt SC, et al. J Inherit Metab Dis. 2021 Sep;44(5):1088-1098. doi: 10.1002/jimd.12414. Epub 2021 Jul 9. J Inherit Metab Dis. 2021. PMID: 34189746 Free PMC article. Review.
Mucopolysaccharidoses type I (MPS I) is an inherited metabolic disease characterized by a malfunction of the alpha-l-iduronidase (IDUA) enzyme leading to the storage of glycosaminoglycans in the lysosomes. ...
Mucopolysaccharidoses type I (MPS I) is an inherited metabolic disease characterized by a malfunction of the alpha-l-iduronidase (IDU …
alpha-L-iduronidase fused with humanized anti-human transferrin receptor antibody (lepunafusp alfa) for mucopolysaccharidosis type I: A phase 1/2 trial.
Harmatz P, Giugliani R, Martins AM, Hamazaki T, Kubo T, Kira R, Minami K, Ikeda T, Moriuchi H, Kawashima S, Takasao N, So S, Sonoda H, Hirato T, Tanizawa K, Schmidt M, Sato Y. Harmatz P, et al. Mol Ther. 2024 Mar 6;32(3):609-618. doi: 10.1016/j.ymthe.2024.01.009. Epub 2024 Jan 10. Mol Ther. 2024. PMID: 38204164 Free article. Clinical Trial.
Mucopolysaccharidosis type I (MPS I) causes systemic accumulation of glycosaminoglycans due to a genetic deficiency of alpha-L-iduronidase (IDUA), which results in progressive systemic symptoms affecting multiple organs, including the central nervous system (CNS). ...
Mucopolysaccharidosis type I (MPS I) causes systemic accumulation of glycosaminoglycans due to a genetic deficiency of alpha-L-iduronidas …
993 results