Results 111 to 120 of about 6,717 (197)

ALG9-CDG [PDF]

, 2020
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

ALG2-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

PMM2-CDG [PDF]

, 2020
openaire   +1 more source

PGM1 deficiency is linked to sarcomeric and mitochondrial dysfunction in patient-derived iPSC-cardiomyocytes. [PDF]

J Transl Med
Radenkovic S, Preston G, Budhraja R, Muffels I, Ligezka A, Staff NP, Hrstka R, Balakrishnan B, Shah R, Verberkmoes S, Shammas I, Bosnyak I, Stiers KM, Lai K, Beamer LJ, Pandey A, Morava E, Kozicz T.   +17 more
europepmc   +1 more source

STT3A-CDG [PDF]

, 2020
openaire   +1 more source

Disorders Mimicking Wilson's Disease: Clinical, Biochemical, and Molecular Perspectives for Accurate Differential Diagnosis. [PDF]

Diagnostics (Basel)
Antos A, Gromadzka G, Bembenek JP, Litwin T.   +3 more
europepmc   +1 more source

ALG6-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