Results 141 to 150 of about 166,041,693 (206)

Congenital Disorder of Glycosylation in a Child with Macrosomia

Clinical Chemistry, 2023
Suneeta Madan-Khetarpal, Maio He, Parith Wongkittichote, Steven F Dobrowolski   +3 more
openaire   +2 more sources

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

Predicting disease-overarching therapeutic approaches for congenital disorders of glycosylation using multi-OMICS. [PDF]

Mol Genet Metab
Muffels IJJ, Budhraja R, Shah R, Radenkovic S, Morava E, Kozicz T.   +5 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

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

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

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

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

Compound heterozygous variants in MAN2B2 identified in a Chinese child with congenital disorders of glycosylation. [PDF]

Eur J Hum Genet, 2023
Tian Q, Shu L, Shu C, Xi H, Ma N, Mao X, Wang H.   +6 more
europepmc   +1 more source

Quantitative Assessment of Core Fucosylation for Congenital Disorders of Glycosylation. [PDF]

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