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Year Number of Results
1987 1
1988 1
1990 1
1991 1
1992 1
1995 2
1997 1
1999 3
2000 1
2002 1
2003 2
2005 1
2006 1
2008 3
2009 1
2012 1
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2025 0

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31 results

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Page 1
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.
Reports from different researchers on apparently similar substances from a variety of biological materials led to the identification of a 9-carbon monosaccharide, which in 1957 was designated "sialic acid." The most frequently occurring member of the sialic
Reports from different researchers on apparently similar substances from a variety of biological materials led to the identification of a 9- …
Disorders of free sialic acid.
Suwannarat P. Suwannarat P. Mol Genet Metab. 2005 Jun;85(2):85-7. doi: 10.1016/j.ymgme.2005.04.005. Mol Genet Metab. 2005. PMID: 15973781 Review. No abstract available.
Free sialic acid storage disorder: Progress and promise.
Huizing M, Hackbarth ME, Adams DR, Wasserstein M, Patterson MC, Walkley SU, Gahl WA; FSASD Consortium. Huizing M, et al. Neurosci Lett. 2021 Jun 11;755:135896. doi: 10.1016/j.neulet.2021.135896. Epub 2021 Apr 20. Neurosci Lett. 2021. PMID: 33862140 Free PMC article. Review.
Lysosomal free sialic acid storage disorder (FSASD) is an extremely rare, autosomal recessive, neurodegenerative, multisystemic disorder caused by defects in the lysosomal sialic acid membrane exporter SLC17A5 (sialin). SLC17A5 defects cause fre …
Lysosomal free sialic acid storage disorder (FSASD) is an extremely rare, autosomal recessive, neurodegenerative, multi …
Lysosomal Glycosphingolipid Storage Diseases.
Breiden B, Sandhoff K. Breiden B, et al. Annu Rev Biochem. 2019 Jun 20;88:461-485. doi: 10.1146/annurev-biochem-013118-111518. Annu Rev Biochem. 2019. PMID: 31220974 Review.
Glycosphingolipids are cell-type-specific components of the outer leaflet of mammalian plasma membranes. Gangliosides, sialic acid-containing glycosphingolipids, are especially enriched on neuronal surfaces. ...The catabolic processes are strongly modified by …
Glycosphingolipids are cell-type-specific components of the outer leaflet of mammalian plasma membranes. Gangliosides, sialic
Inherited disorders of lysosomal membrane transporters.
Huizing M, Gahl WA. Huizing M, et al. Biochim Biophys Acta Biomembr. 2020 Dec 1;1862(12):183336. doi: 10.1016/j.bbamem.2020.183336. Epub 2020 May 8. Biochim Biophys Acta Biomembr. 2020. PMID: 32389669 Free PMC article. Review.
Disorders caused by defects in lysosomal membrane transporters form a distinct subgroup of lysosomal storage disorders (LSDs). To date, defects in only 10 lysosomal membrane transporters have been associated with inherited disorders. ...
Disorders caused by defects in lysosomal membrane transporters form a distinct subgroup of lysosomal storage disorders (LSDs). To dat …
UDP-GlcNAc 2-Epimerase/ManNAc Kinase (GNE): A Master Regulator of Sialic Acid Synthesis.
Hinderlich S, Weidemann W, Yardeni T, Horstkorte R, Huizing M. Hinderlich S, et al. Top Curr Chem. 2015;366:97-137. doi: 10.1007/128_2013_464. Top Curr Chem. 2015. PMID: 23842869 Free PMC article. Review.
UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase is the key enzyme of sialic acid biosynthesis in vertebrates. It catalyzes the first two steps of the cytosolic formation of CMP-N-acetylneuraminic acid from UDP-N-acetylglucosamine. ...
UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase is the key enzyme of sialic acid biosynthesis in vertebrates. I …
Enzymatic properties of β-N-acetylglucosaminidases.
Zhang R, Zhou J, Song Z, Huang Z. Zhang R, et al. Appl Microbiol Biotechnol. 2018 Jan;102(1):93-103. doi: 10.1007/s00253-017-8624-7. Epub 2017 Nov 16. Appl Microbiol Biotechnol. 2018. PMID: 29143882 Review.
These enzymes produce N-acetylglucosamine (GlcNAc) and have a wide range of promising applications in the food, energy, and pharmaceutical industries, such as synergistic degradation of chitin with endo-chitinases and using GlcNAc to produce sialic acid, bioethanol, …
These enzymes produce N-acetylglucosamine (GlcNAc) and have a wide range of promising applications in the food, energy, and pharmaceutical i …
Lysosomal disorders associated with leukoencephalopathy.
Renaud DL. Renaud DL. Semin Neurol. 2012 Feb;32(1):51-4. doi: 10.1055/s-0032-1306386. Epub 2012 Mar 15. Semin Neurol. 2012. PMID: 22422206 Review.
Metachromatic leukodystrophy and Krabbe's disease are among the most widely recognized causes of leukodystrophy. However, white matter changes have been described in several other lysosomal storage disorders. ...
Metachromatic leukodystrophy and Krabbe's disease are among the most widely recognized causes of leukodystrophy. However, white matte …
[Sialic acid storage disease].
Ohno K. Ohno K. Ryoikibetsu Shokogun Shirizu. 2000;(29 Pt 4):482-3. Ryoikibetsu Shokogun Shirizu. 2000. PMID: 11032001 Review. Japanese. No abstract available.
Psychiatric symptoms in Salla disease.
Aulanko I, Rahikkala E, Moilanen J. Aulanko I, et al. Eur Child Adolesc Psychiatry. 2023 Oct;32(10):2043-2047. doi: 10.1007/s00787-022-02031-5. Epub 2022 Jul 7. Eur Child Adolesc Psychiatry. 2023. PMID: 35796883 Free PMC article. Review.
Salla disease (SD) is a rare lysosomal storage disorder characterised by intellectual disability ataxia, athetosis, nystagmus, and central nervous system demyelination. ...
Salla disease (SD) is a rare lysosomal storage disorder characterised by intellectual disability ataxia, athetosis, nystagmus, …
31 results