Results 51 to 60 of about 9,667 (152)

ALG12‐CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant

Molecular Genetics & Genomic Medicine, 2020
Background Congenital disorder of glycosylation (CDG) type I is a group of rare disorders caused by recessive mutations in up to 25 genes that impair the N‐glycan precursor formation and its transfer to proteins resulting in hypoglycosylation of multiple
María Eugenia de laMorena‐Barrio, María Sabater, Belén de laMorena‐Barrio, Renee L. Ruhaak, Antonia Miñano, José Padilla, Mara Toderici, Vanessa Roldán, Juan R. Gimeno, Vicente Vicente, Javier Corral   +10 more
doaj   +1 more source

Modeling Congenital Disorders of N-Linked Glycoprotein Glycosylation in Drosophila melanogaster

Frontiers in Genetics, 2018
Protein glycosylation, the enzymatic addition of N-linked or O-linked glycans to proteins, serves crucial functions in animal cells and requires the action of glycosyltransferases, glycosidases and nucleotide-sugar transporters, localized in the ...
Anna Frappaolo, Stefano Sechi, Tadahiro Kumagai, Angela Karimpour-Ghahnavieh, Michael Tiemeyer, Michael Tiemeyer, Maria Grazia Giansanti   +6 more
doaj   +1 more source

Normal transferrin glycosylation does not rule out severe ALG1 deficiency

JIMD Reports
ALG1‐CDG is a rare, clinically variable metabolic disease, caused by the defect of adding the first mannose (Man) to N‐acetylglucosamine (GlcNAc2)‐pyrophosphate (PP)‐dolichol to the growing oligosaccharide chain, resulting in impaired N‐glycosylation of ...
Inez Bosnyak, Mustafa Sadek, Wasantha Ranatunga, Tamas Kozicz, Eva Morava   +4 more
doaj   +1 more source

Plasma glycoproteomics delivers high-specificity disease biomarkers by detecting site-specific glycosylation abnormalities

Journal of Advanced Research
Introduction: The human plasma glycoproteome holds enormous potential to identify personalized biomarkers for diagnostics. Glycoproteomics has matured into a technology for plasma N-glycoproteome analysis but further evolution towards clinical ...
Hans J.C.T. Wessels, Purva Kulkarni, Maurice van Dael, Anouk Suppers, Esther Willems, Fokje Zijlstra, Else Kragt, Jolein Gloerich, Pierre-Olivier Schmit, Stuart Pengelley, Kristina Marx, Alain J. van Gool, Dirk J. Lefeber   +12 more
doaj   +1 more source

From hepatosplenomegaly to genetic diagnosis: A case of congenital disorder of glycosylation type IIb due to mannosyl-oligosaccharide glucosidase mutation

Journal of Integrative Medicine and Research
Congenital disorders of glycosylation (CDG) are rare metabolic conditions with heterogeneous presentations, often complicating diagnosis. We report a 5-year-old male born to consanguineous parents, presenting with a 2-year history of painless abdominal ...
Hari Nandan Reddy Golla, Srinivas Adari, Nirmal Kumar Mohakud, Swarnalata Das, Amit Ranjan Rup   +4 more
doaj   +1 more source

Congenital disorders of glycosylation (CDG): state of the art in 2022. [PDF]

Orphanet J Rare Dis, 2023
Francisco R, Brasil S, Poejo J, Jaeken J, Pascoal C, Videira PA, Dos Reis Ferreira V.   +6 more
europepmc   +1 more source

Congenital disorders of glycosylation syndromes [PDF]

Developmental Medicine & Child Neurology, 2002
openaire   +2 more sources

Hemostatic defects in congenital disorders of glycosylation. [PDF]

Res Pract Thromb Haemost, 2023
Pascreau T, Auditeau C, Borgel D.
europepmc   +1 more source

[Congenital disorders of glycosylation].

Postepy higieny i medycyny doswiadczalnej, 2004
Congenital disorders of glycosylation are group of hereditary diseases resulting in severe psychomotor retardation and multiorgan failure. So far eleven different defects were identified on the pathway of N-glycan biosynthesis. Seven of them belong to CDG type I and result in incomplete occupation of potential N-glycosylation sites.
openaire   +1 more source

Congenital disorders of glycosylation: narration of a story through its patents. [PDF]

Orphanet J Rare Dis, 2023
Monticelli M, D'Onofrio T, Jaeken J, Morava E, Andreotti G, Cubellis MV.   +5 more
europepmc   +1 more source