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2009 2
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2017 1
2024 0

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Page 1
ALG8-CDG: novel patients and review of the literature.
Höck M, Wegleiter K, Ralser E, Kiechl-Kohlendorfer U, Scholl-Bürgi S, Fauth C, Steichen E, Pichler K, Lefeber DJ, Matthjis G, Keldermans L, Maurer K, Zschocke J, Karall D. Höck M, et al. Orphanet J Rare Dis. 2015 Jun 12;10:73. doi: 10.1186/s13023-015-0289-7. Orphanet J Rare Dis. 2015. PMID: 26066342 Free PMC article. Review.
BACKGROUND: Since 1980, about 100 types of congenital disorders of glycosylation (CDG) have been reported representing an expanding group of inherited disorders. ...The diagnosis is confirmed by mutation analysis in ALG8; all patients rep …
BACKGROUND: Since 1980, about 100 types of congenital disorders of glycosylation (CDG) have been reported repres …
Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature.
Marques-da-Silva D, Dos Reis Ferreira V, Monticelli M, Janeiro P, Videira PA, Witters P, Jaeken J, Cassiman D. Marques-da-Silva D, et al. J Inherit Metab Dis. 2017 Mar;40(2):195-207. doi: 10.1007/s10545-016-0012-4. Epub 2017 Jan 20. J Inherit Metab Dis. 2017. PMID: 28108845 Review.
Congenital disorders of glycosylation (CDG) are a rapidly growing family of genetic diseases caused by defects in glycosylation. ...We distinguish two main groups: on the one hand, the CDG types with predominant or isolated liver involvement inc …
Congenital disorders of glycosylation (CDG) are a rapidly growing family of genetic diseases caused by defects i …
Congenital disorders of glycosylation with emphasis on cerebellar involvement.
Barone R, Fiumara A, Jaeken J. Barone R, et al. Semin Neurol. 2014 Jul;34(3):357-66. doi: 10.1055/s-0034-1387197. Epub 2014 Sep 5. Semin Neurol. 2014. PMID: 25192513 Review.
Congenital disorders of glycosylation (CDG) are genetic diseases due to defective glycosylation of proteins and lipids. ...Screening methods are limited to serum transferrin isoelectrofocusing (for N-glycosylation disorders with si …
Congenital disorders of glycosylation (CDG) are genetic diseases due to defective glycosylation of protei …
Wrinkled skin and fat pads in patients with ALG8-CDG: revisiting skin manifestations in congenital disorders of glycosylation.
Kouwenberg D, Gardeitchik T, Mohamed M, Lefeber DJ, Morava E. Kouwenberg D, et al. Pediatr Dermatol. 2014 Jan-Feb;31(1):e1-5. doi: 10.1111/pde.12233. Pediatr Dermatol. 2014. PMID: 24555185 Review.
Glycosylation is the posttranslational coupling of sugar chains to proteins or lipids. ...Mutations in the glycosylation pathway lead to a phenotypically heterogeneous group of metabolic disorders, the congenital disorders of glycosyla …
Glycosylation is the posttranslational coupling of sugar chains to proteins or lipids. ...Mutations in the glycosylation pathw …
Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides.
Haeuptle MA, Hennet T. Haeuptle MA, et al. Hum Mutat. 2009 Dec;30(12):1628-41. doi: 10.1002/humu.21126. Hum Mutat. 2009. PMID: 19862844 Review.
Defects in the biosynthesis of the oligosaccharide precursor for N-glycosylation lead to decreased occupancy of glycosylation sites and thereby to diseases known as congenital disorders of glycosylation (CDG). ...This review sets the stat …
Defects in the biosynthesis of the oligosaccharide precursor for N-glycosylation lead to decreased occupancy of glycosylation …
A new case of ALG8 deficiency (CDG Ih).
Vesela K, Honzik T, Hansikova H, Haeuptle MA, Semberova J, Stranak Z, Hennet T, Zeman J. Vesela K, et al. J Inherit Metab Dis. 2009 Dec;32 Suppl 1. doi: 10.1007/s10545-009-1203-z. Epub 2009 Aug 18. J Inherit Metab Dis. 2009. PMID: 19688606 Free article. Review.
Congenital disorders of glycosylation (CDG) represent an expanding group of inherited diseases. One of them, ALG8 deficiency (CDG Ih), leads to protein N-glycosylation defects caused by malfunction of glucosyltransferase 2 (Dol-P-Glc:Glc1 …
Congenital disorders of glycosylation (CDG) represent an expanding group of inherited diseases. One of them, …