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Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.
Conte F, Sam JE, Lefeber DJ, Passier R. Conte F, et al. Int J Mol Sci. 2023 May 11;24(10):8632. doi: 10.3390/ijms24108632. Int J Mol Sci. 2023. PMID: 37239976 Free PMC article. Review.
Heart failure (HF) is a progressive chronic disease that remains a primary cause of death worldwide, affecting over 64 million patients. HF can be caused by cardiomyopathies and congenital cardiac defects with monogenic etiology. The number of genes and monogenic disord
Heart failure (HF) is a progressive chronic disease that remains a primary cause of death worldwide, affecting over 64 million patients. HF …
What is new in CDG?
Jaeken J, Péanne R. Jaeken J, et al. J Inherit Metab Dis. 2017 Jul;40(4):569-586. doi: 10.1007/s10545-017-0050-6. Epub 2017 May 8. J Inherit Metab Dis. 2017. PMID: 28484880 Review.
Congenital disorders of glycosylation (CDG) are one group among the disorders of glycosylation. ...Genetic diseases with hypoglycosylation can be divided in primary congenital disorders of glycosylation (CDG) a
Congenital disorders of glycosylation (CDG) are one group among the disorders of glycosylation. ..
Missense variant c.1460 T > C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literature.
Himmelreich N, Dimitrov B, Zielonka M, Hüllen A, Hoffmann GF, Juenger H, Müller H, Lorenz I, Busse B, Marschall C, Schlüter G, Thiel C. Himmelreich N, et al. Mol Genet Metab. 2022 Aug;136(4):274-281. doi: 10.1016/j.ymgme.2022.06.005. Epub 2022 Jun 26. Mol Genet Metab. 2022. PMID: 35839600 Review.
ALG9-CDG is a CDG-I defect within the group of Congenital Disorders of Glycosylation (CDG). ...The clinical findings of our patients and of all previously published ALG9-CDG patients are brought together to further expand the knowledge ab
ALG9-CDG is a CDG-I defect within the group of Congenital Disorders of Glycosylation (CDG). ...The clinic
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
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: 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