Results 51 to 60 of about 7,146 (119)

Neuromuscular Defects in a Drosophila Model of the Congenital Disorder of Glycosylation SLC35A2-CDG. [PDF]

Biomolecules
Itoh K, Kurogochi M, Kaname T, Furukawa JI, Nishihara S.   +4 more
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

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

CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking. [PDF]

Hum Mol Genet, 2022
Wilson MP, Durin Z, Unal Ö, Ng BG, Marrecau T, Keldermans L, Souche E, Rymen D, Gündüz M, Köse G, Sturiale L, Garozzo D, Freeze HH, Jaeken J, Foulquier F, Matthijs G.   +15 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

Congenital disorder of glycosylation - one size does not fit all: a parent's perspective. [PDF]

Ther Adv Rare Dis, 2022
Feinberg K.
europepmc   +1 more source

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

A rare cause of infantile achalasia: GMPPA-congenital disorder of glycosylation with two novel compound heterozygous variants. [PDF]

Am J Med Genet A, 2022
Geiculescu I, Dranove J, Cosper G, Edmondson AC, Morava-Kozicz E, Carter LB.   +5 more
europepmc   +1 more source

Congenital Disorder of Glycosylation Following ATP6AP1 Deficiency With Normal Liver Function: A Case Report. [PDF]

Clin Case Rep
Jabbaripour Sarmadian A, Abdinia B, Seyed Toutounchi K, Saberi M, Eskandarzadeh S.   +4 more
europepmc   +1 more source

TMEM199-Congenital Disorder of Glycosylation With Novel Phenotype and Genotype in a Chinese Boy. [PDF]

Front Genet, 2022
Fang Y, Abuduxikuer K, Wang YZ, Li SM, Chen L, Wang JS.   +5 more
europepmc   +1 more source