Results 91 to 100 of about 9,755 (171)

The First Congenital Disorders of Glycosylation Patient (Fetus) with Homozygous COG5 c.95T>G Variant. [PDF]

Mol Syndromol, 2023
Buyukdogan M, Hancer VS, Sucak A.
europepmc   +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

Chemical Therapies for Congenital Disorders of Glycosylation. [PDF]

ACS Chem Biol, 2022
Sosicka P, Ng BG, Freeze HH.
europepmc   +1 more source

Systematic Review: Drug Repositioning for Congenital Disorders of Glycosylation (CDG). [PDF]

Int J Mol Sci, 2022
Brasil S, Allocca M, Magrinho SCM, Santos I, Raposo M, Francisco R, Pascoal C, Martins T, Videira PA, Pereira F, Andreotti G, Jaeken J, Kantautas KA, Perlstein EO, Ferreira VDR.   +14 more
europepmc   +1 more source

Liver Involvement in Congenital Disorders of Glycosylation: A Systematic Review. [PDF]

J Pediatr Gastroenterol Nutr, 2021
Colantuono R, D'Acunto E, Melis D, Vajro P, Freeze HH, Mandato C.   +5 more
europepmc   +1 more source

Causes of mortality in the congenital disorders of glycosylation. [PDF]

Mol Genet Metab
Alharbi H, Horikoshi S, Jenkins SM, Scaglia F, Lam C, Morava E, Larson A, Edmondson AC.   +7 more
europepmc   +1 more source

Mirror Movements and Dystonia in SRD5A3-Related Congenital Disorders of Glycosylation: Expanding the Phenotypic and Genotypic Spectrum. [PDF]

Mov Disord Clin Pract, 2023
Holla VV, Rangarajan A, Arunachal G, Muthusamy B, Kamble N, Yadav R, Pal PK, Netravathi M.   +7 more
europepmc   +1 more source

Advancement in Clinical Glycomics and Glycoproteomics for Congenital Disorders of Glycosylation: Progress and Challenges Ahead. [PDF]

Biomedicines
Abu Bakar N, Hamzan NI.
europepmc   +1 more source

Erratum: Mass Spectrometry as a First-Line Diagnostic Aid for Congenital Disorders of Glycosylation. [PDF]

Mass Spectrom (Tokyo)
Wada Y.
europepmc   +1 more source

Mass Spectrometry of Transferrin and Apolipoprotein CIII from Dried Blood Spots for Congenital Disorders of Glycosylation. [PDF]

Mass Spectrom (Tokyo), 2022
Wada Y, Kadoya M, Okamoto N.
europepmc   +1 more source