Results 101 to 110 of about 9,755 (171)

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

<i>In vitro</i> cell model to dilucidate the underlying molecular mechanism associated with ophthalmic manifestation of congenital disorders of glycosylation: studying an ALG2-CDG patient. [PDF]

Front Genet
Cubilla MA, Sclausero AC, Bisbal M, Asteggiano CG.   +3 more
europepmc   +1 more source

Outcome of creatine supplementation therapy in phosphoglucomutase-1 deficiency associated congenital disorders of glycosylation: Novel insights. [PDF]

Mol Genet Metab Rep
Ambrose A, McCabe M, Hung C, Sosova I, Seres P, Mercimek-Andrews S.   +5 more
europepmc   +1 more source

Manifestations and Management of Hepatic Dysfunction in Congenital Disorders of Glycosylation. [PDF]

Clin Liver Dis (Hoboken), 2021
Johnsen C, Edmondson AC.
europepmc   +1 more source

Congenital disorders of glycosylation type 1A associated with cerebral hemorrhagic infarction: illustrative case. [PDF]

J Neurosurg Case Lessons
Nomura Y, Morita T, Ueno K, Watanabe R, Katagai T, Asano K, Saito A.   +6 more
europepmc   +1 more source

A Community-Led Approach as a Guide to Overcome Challenges for Therapy Research in Congenital Disorders of Glycosylation. [PDF]

Int J Environ Res Public Health, 2022
Francisco R, Brasil S, Pascoal C, Edmondson AC, Jaeken J, Videira PA, de Freitas C, Ferreira VDR, Marques-da-Silva D.   +8 more
europepmc   +1 more source

Clinical and biochemical footprints of congenital disorders of glycosylation: Proposed nosology. [PDF]

Mol Genet Metab
Ng BG, Freeze HH, Himmelreich N, Blau N, Ferreira CR.   +4 more
europepmc   +1 more source

Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the community. [PDF]

Orphanet J Rare Dis
Granjo P, Pascoal C, Gallego D, Francisco R, Jaeken J, Moors T, Edmondson AC, Kantautas KA, Serrano M, Videira PA, Dos Reis Ferreira V.   +10 more
europepmc   +1 more source