Results 11 to 20 of about 2,044 (163)

The efficacy of high pressure liquid chromatography (HPLC) in detecting congenital glycosylation disorders (CDG)

Türk Biyokimya Dergisi
Congenital disorders of glycosylation (CDG) are a family of rare inherited metabolic disorders. This study aimed to examine the carbohydrate-deficient transferrin (CDT) screening results of 1,328 patients with suspected CDG by using transferrin-high ...
Ozgen Ozge, Güdek Kılıç Fatma, Gedikbaşı Asuman, Balcı Mehmet Cihan, Karaca Meryem, Durmuş Aslı, Tutu Belkıs, Körbeyli Hüseyin Kutay, Atalar Fatmahan, Gökçay Gülden Fatma   +9 more
doaj   +2 more sources

Insights into ALG3-CDG: A case study combining glycan profiling and genetic analysis [PDF]

Molecular Genetics and Metabolism Reports
Congenital disorders of glycosylation (CDG) are a group of rare metabolic disorders caused by the defects in the glycosylation pathways of biomacromolecules leading to altered glycoprofiles in affected individuals. In this case study, we present a 3-year-
Rebeka Kodríková, Zuzana Pakanová, Maroš Krchňák, Veronika Krajčovičová, Anna Šalingová, Katarína Skalická, Miriam Kolníková, Peter Baráth, Marek Nemčovič   +8 more
doaj   +2 more sources

New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach [PDF]

Journal of Clinical Medicine, 2020
Carlota Pascoal, P A Videira, Ana Rita Grosso   +2 more
exaly   +2 more sources

Novel Compound Heterozygous Variants in the COG5 Gene Causing Fetal Hydrops and Skeletal Dysplasia. [PDF]

Mol Genet Genomic Med
Two affected fetuses in a COG5‐CDG family exhibited fetal hydrops and skeletal malformations, which were found to segregate with the paternal frameshift variant c.1972del and the maternal splice‐site variant c.2168_2168+4delinsCATAAAA in the COG5 gene.
Yang Q, He W, Zhang Q, Yi S, Zhou X, Wang L, Yi S, Qin Z, Luo J.   +8 more
europepmc   +2 more sources

Lipo-Glc-1,6-P₂: A Bioprecursor Prodrug for Phosphomannomutase-2 Congenital Disorder of Glycosylation. [PDF]

IUBMB Life
ABSTRACT Phosphomannomutase‐2 (PMM2) deficiency leads to the prominent Congenital Disorder of Glycosylation (CDG), a rare disease currently lacking effective treatment options. The complete absence of PMM2 activity is incompatible with life, and all patients carry at least one missense destabilising variant that allows residual enzymatic function. This
Sodano F, Monticelli M, Hay Mele B, Rolando B, Lazzarato L, De Simone A, Andrisano V, Paris D, Rimoli MG, Cubellis MV, Andreotti G.   +10 more
europepmc   +2 more sources

On the nomenclature of congenital disorders of glycosylation (CDG) [PDF]

Journal of Inherited Metabolic Disease, 2008
SummaryA new nomenclature of CDG is proposed because the current one is too complex for clinicians and provides no added value.
Jaeken, J, Hennet, T, Freeze, H H, Matthijs, G   +3 more
openaire   +3 more sources

Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals

Orphanet Journal of Rare Diseases, 2022
Background Congenital disorders of glycosylation (CDG) are a growing group of rare genetic disorders. The most common CDG is phosphomannomutase 2 (PMM2)-CDG which often has a severe clinical presentation and life-limiting consequences.
C. Pascoal, I. Ferreira, C. Teixeira, E. Almeida, A. Slade, S. Brasil, R. Francisco, A. N. Ligezka, E. Morava, H. Plotkin, J. Jaeken, P. A. Videira, L. Barros, V. dos Reis Ferreira   +13 more
doaj   +1 more source

MAN1B1-CDG: Three new individuals and associated biochemical profiles

Molecular Genetics and Metabolism Reports, 2021
Congenital disorders of glycosylation (CDG) constitute an ever-growing group of genetic diseases affecting the glycosylation of proteins. CDG individuals usually present with severe multisystem disorders.
Soraya Sakhi, Sophie Cholet, Samer Wehbi, Bertrand Isidor, Benjamin Cogne, Sandrine Vuillaumier-Barrot, Thierry Dupré, Trost Detleft, Emmanuelle Schmitt, Bruno Leheup, Céline Bonnet, François Feillet, Christine Muti, François Fenaille, Arnaud Bruneel   +14 more
doaj   +1 more source

Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review

Diagnostics, 2021
Congenital disorders of glycosylation (CDGs) are a heterogeneous group of disorders with impaired glycosylation of proteins and lipids. These conditions have multisystemic clinical manifestations, resulting in gradually progressive complications ...
Patryk Lipiński, Karolina M. Stępień, Elżbieta Ciara, Anna Tylki-Szymańska, Aleksandra Jezela-Stanek   +4 more
doaj   +1 more source

Congenital Disorders of Glycosylation: What Clinicians Need to Know?

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
doaj   +1 more source