Perinatal manifestations of congenital disorders of glycosylation—A clue to early diagnosis [PDF]
Frontiers in Genetics, 2022 N-glycosylation defects—isolated or mixed with other glycosylation defects—are the most frequent congenital disorders of glycosylation and present mostly in childhood, with a specific combination of non-specific phenotypic features.
Milena Greczan +5 more
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Treatment Options in Congenital Disorders of Glycosylation [PDF]
Frontiers in Genetics, 2021 Despite advances in the identification and diagnosis of congenital disorders of glycosylation (CDG), treatment options remain limited and are often constrained to symptomatic management of disease manifestations.
Julien H. Park, Thorsten Marquardt
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Congenital Disorders of Glycosylation: What Clinicians Need to Know? [PDF]
Frontiers in Pediatrics, 2021 Congenital disorders of glycosylation (CDG) are a group of clinically heterogeneous disorders characterized by defects in the synthesis of glycans and their attachment to proteins and lipids.
Patryk Lipiński, Anna Tylki-Szymańska
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Endocrine Implications of Congenital Disorders of Glycosylation [PDF]
JCRPEGlycosylation, attachment of monosaccharides or glycans to specific residues of proteins and lipids, is the most common post-translational modification. Defects among glycoprotein synthesis or modification pathways result in a genetically and clinically ...
Yağmur Ünsal, Zeynep Alev Özön
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Zebrafish models for congenital disorders of glycosylation (CDG): a systematic review [PDF]
Orphanet Journal of Rare DiseasesGlycosylation is a post-translational modification of proteins that involves the addition of glycan groups and is essential for their proper functionality. This highly complex process affects 70% of all human proteins.
N. Gandoy-Fieiras +2 more
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Congenital Disorders of Glycosylation from a Neurological Perspective
Brain Sciences, 2021 Most plasma proteins, cell membrane proteins and other proteins are glycoproteins with sugar chains attached to the polypeptide-glycans. Glycosylation is the main element of the post-translational transformation of most human proteins.
Justyna Paprocka +3 more
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Liver Involvement in Congenital Disorders of Glycosylation and Deglycosylation [PDF]
Frontiers in Pediatrics, 2021 Background: Congenital disorders of glycosylation (CDG) and NGLY1-CDDG (NGLY1-congenital disorder of deglycosylation) usually represent multisystem (especially neurovisceral) diseases with liver involvement reported in some of them.
Patryk Lipiński +3 more
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Novel mutation of COG5 in a Taiwanese girl with congenital disorders of glycosylation manifesting as developmental delay [PDF]
Molecular Genetics and Metabolism ReportsWe are documenting the case of An 11-year-old girl who has been followed up at our out-patient clinic since birth with clinical presentations including intrauterine growth restriction, recurrent periodic fever in infancy, hypotonia, global developmental ...
Yu-Chi Wang +4 more
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Clinical and Molecular Features of Patients With Congenital Disorders of Glycosylation in Japan [PDF]
JIMD ReportsCongenital disorders of glycosylation (CDG) are a heterogeneous group of diseases caused by defects in various steps of the glycosylation pathway. There are over 200 known human glycosylation‐related disorders. Many of these defects lead to multisystemic
Nobuhiko Okamoto +2 more
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Frontiers in Genetics, 2021 Congenital disorders of glycosylation (CDG) are a widely acknowledged group of metabolic diseases. PMM2-CDG is the most frequently diagnosed CDG with a prevalence as high as one in 20,000.
Sander Pajusalu +10 more
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