Results 141 to 150 of about 3,013 (227)

Novel PGM1 Mutation in Congenital Disorder of Glycosylation Type 1T: A Case Report of Liver Failure and Myopathy. [PDF]

Am J Case Rep
Al-Ahmari AA.
europepmc   +1 more source

Congenital Disorders of Glycosylation (CDG): Have you seen them? [PDF]

Genetics in Medicine, 2000
openaire   +1 more source

Clinical and genetic characterization of congenital disorders of glycosylation in 20 Chinese patients. [PDF]

Orphanet J Rare Dis
Zhao P, Tan L, Meng Q, Zhang L, Huang Y, Zhang X, Hu Y, Zhou S, He X.   +8 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

The TRAP complex (SSR1-SSR4): mechanistic roles and therapeutic opportunities. [PDF]

Ann Med
Zhang J, Wan X, Gong A.
europepmc   +1 more source

Abnormal glycosylation in Joubert syndrome type 10 [PDF]

, 2017

core   +1 more source

Insights into ALG3-CDG: A case study combining glycan profiling and genetic analysis. [PDF]

Mol Genet Metab Rep
Kodríková R, Pakanová Z, Krchňák M, Krajčovičová V, Šalingová A, Skalická K, Kolníková M, Baráth P, Nemčovič M.   +8 more
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

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

COG5-CDG: expanding the clinical spectrum [PDF]

core   +1 more source