Results 151 to 160 of about 166,041,693 (206)

<i>In vitro</i> cell model to dilucidate the underlying molecular mechanism associated with ophthalmic manifestation of congenital disorders of glycosylation: studying an ALG2-CDG patient. [PDF]

Front Genet
Cubilla MA, Sclausero AC, Bisbal M, Asteggiano CG.   +3 more
europepmc   +1 more source

Outcome of creatine supplementation therapy in phosphoglucomutase-1 deficiency associated congenital disorders of glycosylation: Novel insights. [PDF]

Mol Genet Metab Rep
Ambrose A, McCabe M, Hung C, Sosova I, Seres P, Mercimek-Andrews S.   +5 more
europepmc   +1 more source

Congenital disorders of glycosylation type 1A associated with cerebral hemorrhagic infarction: illustrative case. [PDF]

J Neurosurg Case Lessons
Nomura Y, Morita T, Ueno K, Watanabe R, Katagai T, Asano K, Saito A.   +6 more
europepmc   +1 more source

Clinical and biochemical footprints of congenital disorders of glycosylation: Proposed nosology. [PDF]

Mol Genet Metab
Ng BG, Freeze HH, Himmelreich N, Blau N, Ferreira CR.   +4 more
europepmc   +1 more source

Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the community. [PDF]

Orphanet J Rare Dis
Granjo P, Pascoal C, Gallego D, Francisco R, Jaeken J, Moors T, Edmondson AC, Kantautas KA, Serrano M, Videira PA, Dos Reis Ferreira V.   +10 more
europepmc   +1 more source

Genetic counseling for congenital disorders of glycosylation (CDG). [PDF]

J Genet Couns
Weixel T, Wolfe L, Macnamara EF.
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
europepmc   +1 more source

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