Results 81 to 90 of about 7,542 (179)

Expanded Clinical Spectrum of Autosomal-Dominant STT3A-CDG

Biomolecules
STT3A encodes the catalytic subunit of the oligosaccharyltransferase A (OST-A) complex and is classically linked to severe autosomal-recessive congenital disorder of glycosylation (CDG). To define the distinct autosomal-dominant disorder, we reviewed all
Hamdan Al-Shahrani, Evelin Szabó, Caroline Staccone, Georgia MacDonald, Yutaka Furuta, Daniel Schecter, Andrew C. Edmondson, Anne McRae, Josh Baker, Eva Morava, Rory J. Tinker   +10 more
doaj   +1 more source

Congenital disorders of glycosylation syndromes [PDF]

Developmental Medicine & Child Neurology, 2002
openaire   +2 more sources

Glycosphingolipids in congenital disorders of glycosylation (CDG)

Molecular Genetics and Metabolism
Congenital disorders of glycosylation (CDG) are a large family of rare disorders affecting the different glycosylation pathways. Defective glycosylation can affect any organ, with varying symptoms among the different CDG. Even between individuals with the same CDG there is quite variable severity.
Pedrayes, Andrea Janez, Rymen, Daisy, Ghesquiere, Bart, Witters, Peter   +3 more
openaire   +3 more sources

[Congenital disorders of glycosylation].

Postepy higieny i medycyny doswiadczalnej, 2004
Congenital disorders of glycosylation are group of hereditary diseases resulting in severe psychomotor retardation and multiorgan failure. So far eleven different defects were identified on the pathway of N-glycan biosynthesis. Seven of them belong to CDG type I and result in incomplete occupation of potential N-glycosylation sites.
openaire   +1 more source

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

Congenital disorder of glycosylation [PDF]

, 2020
openaire   +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