Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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1471-2350
- Extent
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Online-Ressource
- Language
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Englisch
- Notes
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online resource.
- Bibliographic citation
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Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report ; volume:19 ; number:1 ; day:15 ; month:6 ; year:2018 ; pages:1-7 ; date:12.2018
BMC medical genetics ; 19, Heft 1 (15.6.2018), 1-7, 12.2018
- Creator
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Westenfield, Kristen
- Contributor
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Sarafoglou, Kyriakie
Speltz, Laura C.
Pierpont, Elizabeth I.
Steyermark, Joan
Nascene, David
Bower, Matthew
Pierpont, Mary Ella
SpringerLink (Online service)
- DOI
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10.1186/s12881-018-0617-6
- URN
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urn:nbn:de:101:1-2018082419594399768808
- Rights
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Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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15.08.2025, 7:27 AM CEST
Data provider
This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Westenfield, Kristen
- Sarafoglou, Kyriakie
- Speltz, Laura C.
- Pierpont, Elizabeth I.
- Steyermark, Joan
- Nascene, David
- Bower, Matthew
- Pierpont, Mary Ella
- SpringerLink (Online service)
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Leishmania major UDP-sugar pyrophosphorylase salvages galactose for glycoconjugate biosynthesis
UDP-Galactose: Ceramid-Galactosyltransferase des Nervensystems : Reinigung, biochemische und molekularbiologische Charakterisierung
Depletion of UDP-glucose and UDP-galactose using a Degron system leads to growth cessation of Leishmania major
Studien zur subzellulären Lokalisierung der Zuckernukleotidtransporter für UDP-Galactose und CMP-Sialinsäure
Comparative analysis of involvement of UGT1 and UGT2 splice variants of UDP-galactose transporter in glycosylation of macromolecules in MDCK and CHO cell lines
Regioselectivity of glycosylation reactions of galactose acceptors: an experimental and theoretical study
Two cases of placental trisomy 21 mosaicism causing false-negative NIPT results
Myelination in the absence of UDP-galactose:ceramide galactosyl-transferase and fatty acid 2 -hydroxylase
A case of placental trisomy 18 mosaicism causing a false negative NIPT result
Galactose
Identification of the UDP-glucose-4-epimerase required for galactofuranose biosynthesis and galactose metabolism in A. niger
Maternal mosaicism in SSBP1 causing optic atrophy with retinal degeneration: implications for genetic counseling
Leishmania major UDP-sugar pyrophosphorylase salvages galactose for glycoconjugate biosynthesis
UDP-Galactose: Ceramid-Galactosyltransferase des Nervensystems : Reinigung, biochemische und molekularbiologische Charakterisierung
Depletion of UDP-glucose and UDP-galactose using a Degron system leads to growth cessation of Leishmania major
Studien zur subzellulären Lokalisierung der Zuckernukleotidtransporter für UDP-Galactose und CMP-Sialinsäure
Comparative analysis of involvement of UGT1 and UGT2 splice variants of UDP-galactose transporter in glycosylation of macromolecules in MDCK and CHO cell lines
Regioselectivity of glycosylation reactions of galactose acceptors: an experimental and theoretical study
Two cases of placental trisomy 21 mosaicism causing false-negative NIPT results
Myelination in the absence of UDP-galactose:ceramide galactosyl-transferase and fatty acid 2 -hydroxylase
A case of placental trisomy 18 mosaicism causing a false negative NIPT result
Galactose
Identification of the UDP-glucose-4-epimerase required for galactofuranose biosynthesis and galactose metabolism in A. niger