Results 91 to 100 of about 2,044 (163)

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

Albumin as a glycoprotein biomarker in congenital disorders of glycosylation. [PDF]

Mol Genet Metab
Garapati K, Jain A, Joshi N, Sachdeva GS, Nam D, Saraswat M, Pasupuleti RR, Schultz MJ, Kozicz T, Morava E, Pandey A.   +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

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

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

A homozygous nonsense variant in the oligosaccharyltransferase complex gene, RPN1, causes a congenital disorder of glycosylation. [PDF]

HGG Adv
Ng BG, Zhang W, Neil JE, Danish M, Marafi D, Kamal TM, Bastaki L, Al Saffar M, Yang E, He M, Walsh CA, Mochida GH, Freeze HH.   +12 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

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