Results 41 to 50 of about 7,146 (119)

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

Congenital disorder of glycosylation type IIb in an infant with developmental and epileptic encephalopathy. [PDF]

BMJ Case Rep
Shwetabh RK, Singh A, Mandal K, Naranje K, Verma A.   +4 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 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

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

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

Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement. [PDF]

J Med Genet, 2023
Mahajan S, Ng BG, AlAbdi L, Earnest PDJ, Sosicka P, Patel N, Helaby R, Abdulwahab F, He M, Alkuraya FS, Freeze HH.   +10 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

Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation. [PDF]

J Med Genet, 2022
Shimada S, Ng BG, White AL, Nickander KK, Turgeon C, Liedtke KL, Lam CT, Font-Montgomery E, Lourenco CM, He M, Peck DS, Umana LA, Uhles CL, Haynes D, Wheeler PG, Bamshad MJ, Nickerson DA, Cushing T, Gates R, Gomez-Ospina N, Byers HM, UW Center for Mendelian Genomics, Scalco FB, Martinez NN, Sachdev R, Smith L, Poduri A, Malone S, Harris RV, Scheffer IE, Rosenzweig SD, Adams DR, Gahl WA, Malicdan MCV, Raymond KM, Freeze HH, Wolfe LA.   +36 more
europepmc   +1 more source

Treatment of Single Patient With PMM2-Congenital Disorder of Glycosylation With Govorestat (AT-007), an Aldose Reductase Inhibitor. [PDF]

JIMD Rep
Jalazo ER, Weisenfeld LA, Ligezka A, Perfetti R, Muenzer J.   +4 more
europepmc   +1 more source