Results 131 to 140 of about 15,514 (222)

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

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

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

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

Identification of Compound Heterozygous <i>DPM1</i> Variants in a Pediatric Patient With Congenital Disorder of Glycosylation Type Ie. [PDF]

Case Rep Pediatr
Song W, Zhou W, Yang L, Tang L.
europepmc   +1 more source

Novel mutation causing congenital disorder of glycosylation in a child with recurrent anasarca. [PDF]

BMJ Case Rep, 2022
Dogra S, Kumar K, Malhotra S, Sibal A.
europepmc   +1 more source

Novel <i>SSR4</i> gene splice variant leads to congenital disorder of glycosylation, type Iy. [PDF]

Front Pediatr
Li N, Chen C.
europepmc   +1 more source