Results 141 to 150 of about 6,916 (192)

Participatory Action Research: Meaningful Student Involvement in Medical Curriculum Development. [PDF]

Clin Teach
Tyson Y, Al-Jawad M.
europepmc   +1 more source

ALG13-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

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

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

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

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

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

Editorial: Inborn errors of carbohydrate metabolism volume II. [PDF]

Front Genet
García-Ortíz JE, Doederlein-Schwartz IV, Abreu-González M, Martínez-Duncker I.   +3 more
europepmc   +1 more source

Biosynthetic and genetic pathways related to sialic acid metabolism. [PDF]

J Biol Chem
Huang S, van de Ven EGP, Tee T, Lefeber DJ.   +3 more
europepmc   +1 more source