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1970
2025

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

Year Number of Results
1970 1
1974 2
1975 1
1976 4
1977 2
1978 4
1979 5
1980 2
1981 1
1982 4
1983 2
1984 1
1985 2
1986 1
1987 1
1989 3
1990 1
1991 3
1992 1
1993 2
1994 1
1995 5
1996 3
1997 1
1998 1
1999 1
2000 2
2001 4
2002 3
2003 4
2004 5
2005 4
2006 3
2007 1
2008 4
2009 8
2010 2
2011 6
2012 2
2013 5
2014 3
2015 3
2016 4
2017 5
2018 9
2019 8
2020 7
2021 4
2022 2
2023 2
2024 7
2025 0

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148 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.
Exploration of the Sialic Acid World.
Schauer R, Kamerling JP. Schauer R, et al. Adv Carbohydr Chem Biochem. 2018;75:1-213. doi: 10.1016/bs.accb.2018.09.001. Epub 2018 Nov 28. Adv Carbohydr Chem Biochem. 2018. PMID: 30509400 Free PMC article. Review.
Sialidoses.
Franceschetti S, Canafoglia L. Franceschetti S, et al. Epileptic Disord. 2016 Sep 1;18(S2):89-93. doi: 10.1684/epd.2016.0845. Epileptic Disord. 2016. PMID: 27621198 Review.
Corneal dystrophies.
Klintworth GK. Klintworth GK. Orphanet J Rare Dis. 2009 Feb 23;4:7. doi: 10.1186/1750-1172-4-7. Orphanet J Rare Dis. 2009. PMID: 19236704 Free PMC article. Review.
Main differential diagnoses include various causes of monoclonal gammopathy, lecithin-cholesterol-acyltransferase deficiency, Fabry disease, cystinosis, tyrosine transaminase deficiency, systemic lysosomal storage diseases (mucopolysaccharidoses, lipidoses, mucolipidoses), …
Main differential diagnoses include various causes of monoclonal gammopathy, lecithin-cholesterol-acyltransferase deficiency, Fabry disease, …
Regulation of TRPML1 function.
Waller-Evans H, Lloyd-Evans E. Waller-Evans H, et al. Biochem Soc Trans. 2015 Jun;43(3):442-6. doi: 10.1042/BST20140311. Biochem Soc Trans. 2015. PMID: 26009188 Review.
TRPML1: The Ca(2+)retaker of the lysosome.
Di Paola S, Scotto-Rosato A, Medina DL. Di Paola S, et al. Cell Calcium. 2018 Jan;69:112-121. doi: 10.1016/j.ceca.2017.06.006. Epub 2017 Jun 24. Cell Calcium. 2018. PMID: 28689729 Review.
Site-1 protease and lysosomal homeostasis.
Velho RV, De Pace R, Klünder S, Di Lorenzo G, Schweizer M, Braulke T, Pohl S. Velho RV, et al. Biochim Biophys Acta Mol Cell Res. 2017 Nov;1864(11 Pt B):2162-2168. doi: 10.1016/j.bbamcr.2017.06.023. Epub 2017 Jul 8. Biochim Biophys Acta Mol Cell Res. 2017. PMID: 28693924 Free article. Review.
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.
The mucopolysaccharidoses (MPS) and mucolipidoses (ML) are progressive storage disorders that share many clinical features varying from facial dysmorphism, bone dysplasia, hepatosplenomegaly, neurological abnormalities, developmental regression, and a reduced life expectan …
The mucopolysaccharidoses (MPS) and mucolipidoses (ML) are progressive storage disorders that share many clinical features varying fr …
TRPpathies.
Kiselyov K, Soyombo A, Muallem S. Kiselyov K, et al. J Physiol. 2007 Feb 1;578(Pt 3):641-53. doi: 10.1113/jphysiol.2006.119024. Epub 2006 Nov 30. J Physiol. 2007. PMID: 17138610 Free PMC article. Review.
148 results