Results 101 to 110 of about 2,105 (164)

Expanded Clinical Spectrum of Autosomal-Dominant STT3A-CDG. [PDF]

Biomolecules
Al-Shahrani H, Szabó E, Staccone C, MacDonald G, Furuta Y, Schecter D, Edmondson AC, McRae A, Baker J, Morava E, Tinker RJ.   +10 more
europepmc   +1 more source

Resistant Epilepsy and Developmental Delay in a Syndromic Infant: A Case of Congenital Disorder of Glycosylation Type Ik From India. [PDF]

Cureus
Trivedi S, Suvarna JC, Patel D, Nair P, Vaniawala S, Menon P, Tamhankar V, Tamhankar PM.   +7 more
europepmc   +1 more source

Early neonatal diagnosis of SSR4-related congenital disorder of glycosylation with severe congenital heart defects: a case report and systematic review. [PDF]

Front Pediatr
Zhao L, Zeng L, Yi M, Yuan W.
europepmc   +1 more source

Novel <i>ALG13</i> Variants and an Expanded Neurodevelopmental Spectrum: Genotype-Phenotype Correlations. [PDF]

Hum Mutat
Su S, Hu W, Ren Y, Zhang T, Yu C, Zhang H.   +5 more
europepmc   +1 more source

Stress-induced secretory pathway disruption causes atypical metalloproteinase transport in PMM2-CDG. [PDF]

iScience
Wu CL, Wiggins K, Dukes-Rimsky L, Garapati K, Pandey A, Steet R, Flanagan-Steet H.   +6 more
europepmc   +1 more source

From Isoprene Units to Polyprenols and Dolichols: 70 Years of Polyisoprenoid Biosynthesis Research. [PDF]

Cell Biochem Biophys
Bechler Z, Surmacz L.
europepmc   +1 more source

Extensive Hypoglycosylation of Serum N-Glycoproteins in SRD5A3 Deficiency. [PDF]

J Inherit Metab Dis
Jain A, Budhraja R, Garapati K, Lam C, Schultz MJ, Kozicz T, Morava E, Pandey A.   +7 more
europepmc   +1 more source

A Contemporary Pathomechanistic Nosology of Inherited Lysosomal Disorders. [PDF]

J Inherit Metab Dis
McCarron EP, Blau N, Eden ER, Platt FM, Aerts JM, Jones SA, Ferreira CR, Stepien KM.   +7 more
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

Management of pregnancy and outcomes in a woman with mannose-6-phosphate isomerase deficiency (MPI-CDG). [PDF]

Mol Genet Metab Rep
Loh JHM, Khin MO, Bassett J, Mighell A, Jowett S, Moreea S, Woodall A, Sia P, Hussain A, Hufton A, Stepien KM.   +10 more
europepmc   +1 more source