Results 91 to 100 of about 6,449 (175)

SLC35A2-CDG [PDF]

, 2020
openaire   +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

ALG13-CDG [PDF]

, 2020
openaire   +1 more source

CDG due to Defective Membrane Transporters: Update. [PDF]

J Inherit Metab Dis
Quelhas D, Ferreira CR, Jaeken J.
europepmc   +1 more source

MOGS-CDG [PDF]

, 2020
openaire   +1 more source

ALG1-CDG [PDF]

, 2020
openaire   +1 more source

Multi-Omics Characterization of a Novel <i>SSR4</i> Variant in Congenital Disorders of Glycosylation. [PDF]

Metabolites
Abu Bakar N, Hamzan NI, Majawit EM, Ahmad Ridzuan SN, Hassan NH, Habib A, Ngu LH.   +6 more
europepmc   +1 more source

COG2-CDG [PDF]

, 2020
openaire   +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

PGM1-CDG [PDF]

, 2020
openaire   +1 more source