Results 91 to 100 of about 9,667 (152)

Revisiting the immunopathology of congenital disorders of glycosylation: an updated review. [PDF]

Front Immunol
Pascoal C, Francisco R, Mexia P, Pereira BL, Granjo P, Coelho H, Barbosa M, Dos Reis Ferreira V, Videira PA.   +8 more
europepmc   +1 more source

Cardiomyopathy, an uncommon phenotype of congenital disorders of glycosylation: Recommendations for baseline screening and follow-up evaluation. [PDF]

Mol Genet Metab
Zemet R, Hope KD, Edmondson AC, Shah R, Patino M, Yesso AM, Berger JH, Sarafoglou K, Larson A, Lam C, Morava E, Scaglia F.   +11 more
europepmc   +1 more source

Congenital disorders of glycosylation with multiorgan disruption and immune dysregulation caused by compound heterozygous variants in MAN2B2. [PDF]

Mol Genet Genomic Med
Fan S, Wu H, Wang R, Chen Q, Zhang X.
europepmc   +1 more source

Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort. [PDF]

Mol Genet Metab
Lam C, Scaglia F, Berry GT, Larson A, Sarafoglou K, Andersson HC, Sklirou E, Tan QKG, Starosta RT, Sadek M, Wolfe L, Horikoshi S, Ali M, Barone R, Campbell T, Chang IJ, Coles K, Cook E, Eklund EA, Engelhardt NM, Freeman M, Friedman J, Fu DYT, Botzo G, Rawls B, Hernandez C, Johnsen C, Keller K, Kramer S, Kuschel B, Leshinski A, Martinez-Duncker I, Mazza GL, Mercimek-Andrews S, Miller BS, Muthusamy K, Neira J, Patterson MC, Pogorelc N, Powers LN, Ramey E, Reinhart M, Squire A, Thies J, Vockley J, Vreugdenhil H, Witters P, Youbi M, Zeighami A, Zemet R, Edmondson AC, Morava E.   +51 more
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Liposome-encapsulated mannose-1-phosphate therapy improves global N-glycosylation in different congenital disorders of glycosylation. [PDF]

Mol Genet Metab
Budhraja R, Radenkovic S, Jain A, Muffels IJJ, Ismaili MHA, Kozicz T, Pandey A, Morava E.   +7 more
europepmc   +1 more source

Targeted Proteomics Reveals Quantitative Differences in Low-Abundance Glycosyltransferases of Patients with Congenital Disorders of Glycosylation. [PDF]

Int J Mol Sci
Sakson R, Beedgen L, Bernhard P, Alp KM, Lübbehusen N, Röth R, Niesler B, Luzarowski M, Shevchuk O, Mayer MP, Thiel C, Ruppert T.   +11 more
europepmc   +1 more source

Resilience in patients and family caregivers living with congenital disorders of glycosylation (CDG): a quantitative study using the brief resilience coping scale (BRCS). [PDF]

Orphanet J Rare Dis
Poejo J, Gomes AI, Granjo P, Dos Reis Ferreira V.   +3 more
europepmc   +1 more source

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Oligosaccharyltransferase complex‐congenital disorders of glycosylation: A novel congenital disorder of glycosylation

American Journal of Medical Genetics Part A, 2020
AbstractCongenital disorders of glycosylation (CDG) are metabolic disorders that affect the glycosylation of proteins and lipids. Since glycosylation affects all organs, CDG show a wide spectrum of phenotypes. We present a patient with microcephaly, dysmorphic facies, congenital heart defect, focal epilepsy, infantile spasms, skeletal dysplasia, and a ...
Emily M. Bryant, John J. Millichap, Egidio Spinelli, Jeffrey D. Calhoun, Christopher Miller, Jessica Giannelli, Jacqueline Wolak, Victoria Sanders, Gemma L. Carvill, Joel Charrow   +9 more
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Congenital Disorders of Glycosylation

Annual Review of Genomics and Human Genetics, 2001
Congenital disorders of glycosylation (CDG) are a rapidly growing group of genetic diseases that are due to defects in the synthesis of glycans and in the attachment of glycans to other compounds. Most CDG are multisystem diseases that include severe brain involvement.
J, Jaeken, G, Matthijs
openaire   +2 more sources