Congenital Disorders Of Glycosylation
What's New
Last Posted: Jul 22, 2024
- Aberrant N-glycosylation is a therapeutic target in carriers of a common and highly pleiotropic mutation in the manganese transporter ZIP8.
Vartika Tomar, et al. bioRxiv : the preprint server for biology 2024 0 - Congenital disorders of glycosylation: The Saudi experience.
Alsubhi Sarah, et al. American journal of medical genetics. Part A 2017 0 (10) 2614-2621 - Hypothesis: lobe A (COG1-4)-CDG causes a more severe phenotype than lobe B (COG5-8)-CDG.
Haijes Hanneke A, et al. Journal of medical genetics 2017 0 (2) 137-142 - Ten years of screening for congenital disorders of glycosylation in Argentina: case studies and pitfalls.
Asteggiano Carla Gabriela, et al. Pediatric research 2018 0 (6) 837-841 - Fast screening of N-glycosylation disorders by sialotransferrin profiling with capillary zone electrophoresis.
Kingma H A, et al. Annals of clinical biochemistry 2018 0 (6) 693-701 - CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age.
Mizumoto Shuji, et al. Human mutation 2019 0 (3) 655-667 - Are the new genetic tools for diagnosis of Wilson disease helpful in clinical practice?
Espinós Carmen, et al. JHEP reports : innovation in hepatology 2020 0 (4) 100114 - Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes.
Carmody Leigh C, et al. Orphanet journal of rare diseases 2020 0 (1) 40 - The Estimated Prevalence of N-Linked Congenital Disorders of Glycosylation Across Various Populations Based on Allele Frequencies in General Population Databases.
Pajusalu Sander, et al. Frontiers in genetics 2021 0 719437 - Congenital disorder of glycosylation with defective fucosylation 2 (FCSK gene defect): The third report in the literature with a mild phenotype.
Al Tuwaijri Abeer, et al. Molecular genetics & genomic medicine 2022 0 e2117 - Genetic variants of transferrin in the diagnosis of protein hypoglycosylation.
Albahri Z, et al. Journal of inherited metabolic disease 2006 0 (6) 1184-8 - Congenital disorders of glycosylation: Prevalence, incidence and mutational spectrum in the Polish population.
Lipi?ski Patryk, et al. Molecular genetics and metabolism reports 2021 6 100726 - Genetic predisposition to fetal alcohol syndrome: association with congenital disorders of N-glycosylation.
de la Morena-Barrio María E, et al. Pediatric research 2018 0 (1-1) 119-127 - International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
Altassan Ruqaiah et al. Journal of inherited metabolic disease 2019 Jan 42(1) 5-28 - Glycomics in rare diseases: from diagnosis to mechanism.
Davids Mariska et al. Translational research : the journal of laboratory and clinical medicine 2018 Oct - The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed Patients.
Vals Mari-Anne, et al. JIMD reports 2017 7 - Glycan susceptibility factors in autism spectrum disorders.
Dwyer Chrissa A, et al. Molecular aspects of medicine 2016 7 - Review of Commercially Available Epilepsy Genetic Panels.
Chambers Chelsea et al. Journal of genetic counseling 2015 Nov - Congenital disorders of glycosylation
From NCATS Genetic and Rare Diseases Information Center - Genetic variants of transferrin in cystic fibrosis.
Marklová E, et al. Journal of inherited metabolic disease 2008 6 (3) 457-61 - Common variations in ALG9 are not associated with bipolar I disorder: a family-based study.
Baysal Bora E, et al. Behavioral and brain functions : BBF 2006 0 () 25
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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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