Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
1997 1
2002 1
2003 1
2013 1
2014 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

5 results

Results by year

Filters applied: . Clear all
Page 1
Ehlers-Danlos syndrome associated with glycosaminoglycan abnormalities.
Miyake N, Kosho T, Matsumoto N. Miyake N, et al. Adv Exp Med Biol. 2014;802:145-59. doi: 10.1007/978-94-007-7893-1_10. Adv Exp Med Biol. 2014. PMID: 24443026 Review.
Ehlers-Danlos syndrome (EDS) is a genetically and clinically heterogeneous group of connective tissue disorders that typically present with skin hyperextensibility, joint hypermobility, and tissue fragility. ...The progeroid type of EDS is cause …
Ehlers-Danlos syndrome (EDS) is a genetically and clinically heterogeneous group of connective tissue disorders that ty …
Galactosyltransferase I is a gene responsible for progeroid variant of Ehlers-Danlos syndrome: molecular cloning and identification of mutations.
Furukawa K, Okajima T. Furukawa K, et al. Biochim Biophys Acta. 2002 Dec 19;1573(3):377-81. doi: 10.1016/s0304-4165(02)00406-3. Biochim Biophys Acta. 2002. PMID: 12417421 Review.
The enzyme product contained beta-1,4-linked galactosyl residues, indicating that the enzyme is galactosyltransferase I (UDP-D-galactose: D-xylose beta-1,4-D-galactosyltransferase; EC 2.4.1.133) involved in the synthesis of the GAG-protein linkage region of proteoglycans. Mutatio …
The enzyme product contained beta-1,4-linked galactosyl residues, indicating that the enzyme is galactosyltransferase I (UDP-D-galactose: D- …
Congenital disorders of glycosylation. Part II. Defects of protein O-glycosylation.
Cylwik B, Lipartowska K, Chrostek L, Gruszewska E. Cylwik B, et al. Acta Biochim Pol. 2013;60(3):361-8. Epub 2013 Sep 19. Acta Biochim Pol. 2013. PMID: 24051442 Free article. Review.
The O-glycosylation is essential in the biosynthesis of mucins, the formation of proteoglycan core proteins and blood group proteins. Most common forms of O-glycans are the mucin-type glycans. There are more than 20 known disorders related to O-glycosylation disturbances. …
The O-glycosylation is essential in the biosynthesis of mucins, the formation of proteoglycan core proteins and blood group proteins. Most c …
Inherited disorders of glycoprotein synthesis: cell biological insights.
McDowell G, Gahl WA. McDowell G, et al. Proc Soc Exp Biol Med. 1997 Jun;215(2):145-57. doi: 10.3181/00379727-215-44121. Proc Soc Exp Biol Med. 1997. PMID: 9160042 Review.
Macular corneal dystrophy and spondyloepiphyseal dysplasia tarda offer an opportunity to investigate the number of different sulfotransferases in cells, their substrates, and their tissue expression. The Ehlers-Danlos progeroid variant offers insight into the …
Macular corneal dystrophy and spondyloepiphyseal dysplasia tarda offer an opportunity to investigate the number of different sulfotransferas …