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Year Number of Results
1989 1
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1997 5
1998 5
1999 16
2000 9
2001 10
2002 7
2003 16
2004 13
2005 10
2006 18
2007 12
2008 12
2009 19
2010 11
2011 10
2012 17
2013 14
2014 21
2015 11
2016 14
2017 18
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2024 9

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369 results

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Page 1
Glycosylation in health and disease.
Reily C, Stewart TJ, Renfrow MB, Novak J. Reily C, et al. Nat Rev Nephrol. 2019 Jun;15(6):346-366. doi: 10.1038/s41581-019-0129-4. Nat Rev Nephrol. 2019. PMID: 30858582 Free PMC article. Review.
The glycome describes the complete repertoire of glycoconjugates composed of carbohydrate chains, or glycans, that are covalently linked to lipid or protein molecules. Glycoconjugates are formed through a process called glycosylation and can differ in their glycan sequence …
The glycome describes the complete repertoire of glycoconjugates composed of carbohydrate chains, or glycans, that are covalently linked to …
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.
Engel AG, Shen XM, Selcen D, Sine SM. Engel AG, et al. Lancet Neurol. 2015 Apr;14(4):420-34. doi: 10.1016/S1474-4422(14)70201-7. Lancet Neurol. 2015. PMID: 25792100 Free PMC article. Review.
The congenital myasthenic syndromes (CMS) are a diverse group of genetic disorders caused by abnormal signal transmission at the motor endplate, a special synaptic contact between motor axons and each skeletal muscle fibre. Most CMS stem from molecular defects in th …
The congenital myasthenic syndromes (CMS) are a diverse group of genetic disorders caused by abnormal signal transmission at t …
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 …
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
Altassan R, Radenkovic S, Edmondson AC, Barone R, Brasil S, Cechova A, Coman D, Donoghue S, Falkenstein K, Ferreira V, Ferreira C, Fiumara A, Francisco R, Freeze H, Grunewald S, Honzik T, Jaeken J, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-da-Silva D, Pascoal C, Quelhas D, Raymond KM, Rymen D, Seroczynska M, Serrano M, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Voermans N, Witters P, Morava E. Altassan R, et al. J Inherit Metab Dis. 2021 Jan;44(1):148-163. doi: 10.1002/jimd.12286. Epub 2020 Sep 15. J Inherit Metab Dis. 2021. PMID: 32681750 Free PMC article. Review.
Phosphoglucomutase 1 (PGM1) deficiency is a rare genetic disorder that affects glycogen metabolism, glycolysis, and protein glycosylation. Previously known as GSD XIV, it was recently reclassified as a congenital disorder of glycosylation
Phosphoglucomutase 1 (PGM1) deficiency is a rare genetic disorder that affects glycogen metabolism, glycolysis, and protein glycos
Wilson disease.
Aggarwal A, Bhatt M. Aggarwal A, et al. Curr Opin Neurol. 2020 Aug;33(4):534-542. doi: 10.1097/WCO.0000000000000837. Curr Opin Neurol. 2020. PMID: 32657896 Review.
A disease phenotype with dominant psychiatric features and increased risk of cardiac problems and various sleep disorders have been identified.In addition to a better understanding of the phenotype of Wilson disease itself, features of some related disorders ('Wilso …
A disease phenotype with dominant psychiatric features and increased risk of cardiac problems and various sleep disorders have been i …
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. ..
Platelets and Defective N-Glycosylation.
Mammadova-Bach E, Jaeken J, Gudermann T, Braun A. Mammadova-Bach E, et al. Int J Mol Sci. 2020 Aug 6;21(16):5630. doi: 10.3390/ijms21165630. Int J Mol Sci. 2020. PMID: 32781578 Free PMC article. Review.
Hypoglycosylation is the hallmark of a group of rare genetic diseases called congenital disorders of glycosylation (CDG). These diseases are due to defects in glycan synthesis, processing, and attachment to proteins and lipids, thereby modifying signal …
Hypoglycosylation is the hallmark of a group of rare genetic diseases called congenital disorders of glycosylation
Congenital disorders of glycosylation and infantile epilepsy.
Lee HF, Chi CS. Lee HF, et al. Epilepsy Behav. 2023 May;142:109214. doi: 10.1016/j.yebeh.2023.109214. Epub 2023 Apr 21. Epilepsy Behav. 2023. PMID: 37086590 Review.
Congenital disorders of glycosylation (CDG) are a group of rare inherited metabolic disorders caused by defects in various defects of protein or lipid glycosylation pathways. ...
Congenital disorders of glycosylation (CDG) are a group of rare inherited metabolic disorders caused by d
Human glycosylation disorders.
Krasnewich D. Krasnewich D. Cancer Biomark. 2014 Jan 1;14(1):3-16. doi: 10.3233/CBM-130374. Cancer Biomark. 2014. PMID: 24643038 Review.
Over the past 20 years, clinical disorders of glycosylation have expanded to include over 50 recognized defects in the network of glycobiologic pathways. In parallel, more cases have been recognized by astute clinicians increasing both the number of known affected i …
Over the past 20 years, clinical disorders of glycosylation have expanded to include over 50 recognized defects in the network …
[Congenital disorder of glycosylation type Ia (CDG Ia) - underdiagnosed entity?].
Sätilä H, Kuusela AL, Pietilä K, Niinikoski H, Keskinen P. Sätilä H, et al. Duodecim. 2016;132(3):253-9. Duodecim. 2016. PMID: 26951030 Review. Finnish.
Congenital disorders of glycosylation (CDG) are a relatively recently identified group of multisystem disorders caused by defective glycosylation of N-glycosylated proteins. ...
Congenital disorders of glycosylation (CDG) are a relatively recently identified group of multisystem disorde
369 results