Results 81 to 90 of about 7,768 (132)

Clinical Presentation of a Patient with a Congenital Disorder of Glycosylation, Type IIs (ATP6AP1), and Liver Transplantation. [PDF]

Int J Mol Sci, 2023
Semenova N, Shatokhina O, Shchagina O, Kamenec E, Marakhonov A, Degtyareva A, Taran N, Strokova T.   +7 more
europepmc   +1 more source

Suspected Central Adrenal Insufficiency in a Patient with Phosphomannomutase 2-Congenital Disorder of Glycosylation. [PDF]

JCEM Case Rep
Ødum SF, Grønborg SW, Main KM, Klose M.   +3 more
europepmc   +1 more source

Coagulation abnormalities in a prospective cohort of 50 patients with PMM2-congenital disorder of glycosylation. [PDF]

Mol Genet Metab, 2023
De Graef D, Ligezka AN, Rezents J, Mazza GL, Preston G, Schwartz K, Krzysciak W, Lam C, Edmondson AC, Johnsen C, Kozicz T, Morava E.   +11 more
europepmc   +1 more source

COG5-congenital disorder of glycosylation diagnosed by whole genome sequencing in siblings with unexplained optic atrophy, macular atrophy, and developmental delay: case report. [PDF]

Front Neurol
Granger K, Do C, Quindipan C, Schmidt R, Borchert MS, Nagiel A, Chang MY.   +6 more
europepmc   +1 more source

Expanding the phenotype and metabolic basis of ATP6AP2-congenital disorder of glycosylation in a Chinese patient with a novel variant c.185G>A (p.Gly62Glu). [PDF]

Front Genet, 2023
Fang Y, Wang YZ, Chen L, Xie XB.
europepmc   +1 more source

Early Diagnosis and Targeted Therapy in SLC39A8-Congenital Disorder of Glycosylation: A Case Report From Bulgaria. [PDF]

Cureus
Varbanova V, Tacheva G, Paneva T, Krasteva M, Stamatov D, Litvinenko I.   +5 more
europepmc   +1 more source

A novel variant in ALG1 gene associated with congenital disorder of glycosylation: A case report and short literature review. [PDF]

Mol Genet Genomic Med, 2023
Xue Y, Zhao Y, Wu B, Shu J, Yan D, Li D, Yu X, Cai C.   +7 more
europepmc   +1 more source

Early neonatal diagnosis of SSR4-related congenital disorder of glycosylation with severe congenital heart defects: a case report and systematic review. [PDF]

Front Pediatr
Zhao L, Zeng L, Yi M, Yuan W.
europepmc   +1 more source

Long-term outcomes in ALG13-Congenital Disorder of Glycosylation. [PDF]

Am J Med Genet A, 2023
Shah R, Johnsen C, Pletcher BA, Edmondson AC, Kozicz T, Morava E.   +5 more
europepmc   +1 more source

Neuro-Ophthalmic Presentation of Steroid 5a-Reductase Type 3 Congenital Disorder of Glycosylation: A Case of Monozygotic Twins. [PDF]

Cureus
Swaroop S, Dasgupta S, Srivastava P, Jain SD, Nag DS, Tanti SK.   +5 more
europepmc   +1 more source