Results 151 to 160 of about 3,013 (227)

Zebrafish models for congenital disorders of glycosylation (CDG): a systematic review. [PDF]

Orphanet J Rare Dis
Gandoy-Fieiras N, Quiroga MI, Sánchez L.   +2 more
europepmc   +1 more source

The Importance of N- and O-Glycosylation of Brain Cell Surface Glycoproteins. [PDF]

Glycobiology
Noel M, Zürcher YM, Tulin EKC, Cummings RD.   +3 more
europepmc   +1 more source

PGM1 deficiency is linked to sarcomeric and mitochondrial dysfunction in patient-derived iPSC-cardiomyocytes. [PDF]

J Transl Med
Radenkovic S, Preston G, Budhraja R, Muffels I, Ligezka A, Staff NP, Hrstka R, Balakrishnan B, Shah R, Verberkmoes S, Shammas I, Bosnyak I, Stiers KM, Lai K, Beamer LJ, Pandey A, Morava E, Kozicz T.   +17 more
europepmc   +1 more source

Phenotypic and genotypic description of GMPPA-congenital disorder of glycosylation: A review of 26 cases. [PDF]

Mol Genet Metab
Altassan R, Aldhahri SK, Macdonald G, Shah R, Morava E.   +4 more
europepmc   +1 more source

Study of hemostasis and endothelium in congenital disorder of glycosylation (CDG)

, 2019
The aim of this study was to evaluate the role of N-glycosylations on hemostasis, both on coagulation proteins and on the endothelium. In order to study the role of glycan chains on hemostasis in a global system, we were interested in congenital disorder of glycosylation (CDG).
openaire   +1 more source

Endocrine system disturbances in children with inherited metabolic diseases: a narrative review. [PDF]

Front Endocrinol (Lausanne)
Tagi VM, Fiori L, Montanari C, Tonduti D, Ferrario M, Gambino M, Greco IP, Cecchini A, Calcaterra V, Zuccotti G, Verduci E.   +10 more
europepmc   +1 more source

Congenital Disorder of Glycosylation Following ATP6AP1 Deficiency With Normal Liver Function: A Case Report. [PDF]

Clin Case Rep
Jabbaripour Sarmadian A, Abdinia B, Seyed Toutounchi K, Saberi M, Eskandarzadeh S.   +4 more
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

Clinical and neuroimaging features as diagnostic guides in neonatal neurology diseases with cerebellar involvement [PDF]

core   +1 more source

Insights Into the Pathological Glycosylation Associated With COG6-CDG. [PDF]

Hum Mutat
Pakanová Z, Krchňák M, Nemčovič M, Kodríková R, Ondrušková N, Štufková H, Giertlová M, Okáľová K, Stretavská P, Martineková S, Mezenská RZ, Urminská M, Škopková M, Andrésová A, Lysinová M, Belujská L, Šalingová A, Beke G, Račková L, Honzík T, Hansíková H, Baráth P.   +21 more
europepmc   +1 more source