Results 71 to 80 of about 7,768 (132)

Defining the phenotype of PGAP3-congenital disorder of glycosylation; a review of 65 cases. [PDF]

Mol Genet Metab, 2023
Altassan R, Allers MM, De Graef D, Shah R, de Vries M, Larson A, Glamuzina E, Morava E.   +7 more
europepmc   +1 more source

ALG14 variants contribute to a congenital disorder of glycosylation characterized by congenital myasthenia and epilepsy. [PDF]

HGG Adv
Marquez J, Rouxel F, It FE, Couturier V, Duplomb L, Bourgeois V, Briffaut AS, Bruel AL, Chevarin M, Ganne B, Ng BG, Viviano S, Hektor MPN, Pasha RA, Gatinois V, Larrieu-Arguille C, Faure JM, Prodhomme O, Colmard M, Rivier F, Yukimune O, Poe C, Rouvet I, Vitobello A, Thauvin C, Rodriguez-Gomez GD, Tolusso LK, Katata Y, Kikuchi A, Hoffman TL, Andersson HC, Deniz E, He M, Wells CF, Denommé-Pichon AS, Edmondson AC, Freeze HH, Lam C.   +37 more
europepmc   +1 more source

Integrated glycoproteomics reveals site-specific N-glycosylation defects in phosphomannomutase two congenital disorder of glycosylation. [PDF]

J Biol Chem
Nilsson J, Mirgorodskaya E, Wallem CS, Noborn F, Eklund EA, Larson G, Blomqvist M.   +6 more
europepmc   +1 more source

B4GALT1-related congenital disorder of glycosylation mimicking Ehlers-Danlos syndrome: a child with multisystem involvement and nephrotic syndrome. [PDF]

Clin Exp Pediatr
Ganieva M, Boltaboeva M, Ganiyeva U, Efimenko O, Haydarov A, Toshboev S.   +5 more
europepmc   +1 more source

A Case of Congenital Disorder of Glycosylation Type 1b Presenting as Hyperinsulinemic Hypoglycemia and Failure to Thrive. [PDF]

JCEM Case Rep, 2023
Rani S, Sahai I, Misra M.
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

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

Lipo-Glc-1,6-P₂: A Bioprecursor Prodrug for Phosphomannomutase-2 Congenital Disorder of Glycosylation. [PDF]

IUBMB Life
Sodano F, Monticelli M, Hay Mele B, Rolando B, Lazzarato L, De Simone A, Andrisano V, Paris D, Rimoli MG, Cubellis MV, Andreotti G.   +10 more
europepmc   +1 more source

Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking. [PDF]

J Inherit Metab Dis, 2023
Duan R, Marafi D, Xia ZJ, Ng BG, Maroofian R, Sumya FT, Saad AK, Du H, Fatih JM, Hunter JV, Elbendary HM, Baig SM, Abdullah U, Ali Z, Efthymiou S, Murphy D, Mitani T, Withers MA, Jhangiani SN, Coban-Akdemir Z, Calame DG, Pehlivan D, Gibbs RA, Posey JE, Houlden H, Lupashin VV, Zaki MS, Freeze HH, Lupski JR.   +28 more
europepmc   +1 more source

Congenital disorder of glycosylation type IIb in an infant with developmental and epileptic encephalopathy. [PDF]

BMJ Case Rep
Shwetabh RK, Singh A, Mandal K, Naranje K, Verma A.   +4 more
europepmc   +1 more source