Results 21 to 30 of about 3,112 (224)

ALG12‐CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant

Molecular Genetics & Genomic Medicine, 2020
Background Congenital disorder of glycosylation (CDG) type I is a group of rare disorders caused by recessive mutations in up to 25 genes that impair the N‐glycan precursor formation and its transfer to proteins resulting in hypoglycosylation of multiple
María Eugenia de laMorena‐Barrio, María Sabater, Belén de laMorena‐Barrio, Renee L. Ruhaak, Antonia Miñano, José Padilla, Mara Toderici, Vanessa Roldán, Juan R. Gimeno, Vicente Vicente, Javier Corral   +10 more
doaj   +1 more source

Whole exome sequencing reveals several novel variants in congenital disorders of glycosylation and glycogen storage diseases in seven patients from Iran

Molecular Genetics & Genomic Medicine, 2023
Background Congenital disorder of glycosylation (CDG) and Glycogen storage diseases (GSDs) are inborn metabolic disorders caused by defects in some metabolic pathways. These disorders are a heterogeneous group of diseases caused by impaired O‐ as well as
Atefe Papi, Mina Zamani, Gholamreza Shariati, Alireza Sedaghat, Tahere Seifi, Samira Negahdari, Sahar Sadat Sedighzadeh, Jawaher Zeighami, Alihossein Saberi, Mohammad Hamid, Hamid Galehdari   +10 more
doaj   +1 more source

Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation. [PDF]

, 2017
Congenital disorders of glycosylation (CDG) are a heterogeneous and rapidly growing group of diseases caused by abnormal glycosylation of proteins and/or lipids.
Beltran, S, Bravo, M, Briones, P, Dopazo, J, Egea, G, Foulquier, F, Fuster-Jorge, P, Garcia-Garcia, F, García-Pelegrí, E, Girós, M, Gonzalez-Bravo, MN, Llambrich, M, Matalonga, L, Matthijs, G, Mills, P, Quintana, E, Ribes, A, Serra-Peinado, C, Tort, F, Ugarteburu, O, Vidal, S   +20 more
core   +2 more sources

Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides [PDF]

, 2009
Defects in the biosynthesis of the oligosaccharide precursor for N-glycosylation lead to decreased occupancy of glycosylation sites and thereby to diseases known as congenital disorders of glycosylation (CDG).
Haeuptle, M A, Hennet, T
core   +1 more source

A genome-wide CRISPR screen identifies DPM1 as a modifier of DPAGT1 deficiency and ER stress.

PLoS Genetics, 2022
Partial loss-of-function mutations in glycosylation pathways underlie a set of rare diseases called Congenital Disorders of Glycosylation (CDGs). In particular, DPAGT1-CDG is caused by mutations in the gene encoding the first step in N-glycosylation ...
Hans M Dalton, Raghuvir Viswanatha, Roderick Brathwaite, Jae Sophia Zuno, Alexys R Berman, Rebekah Rushforth, Stephanie E Mohr, Norbert Perrimon, Clement Y Chow   +8 more
doaj   +1 more source

Epileptic Spasms in Congenital Disorders of Glycosylation [PDF]

, 2017
Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, characterized by impaired glycosylation. Multisystemic involvement is common and neurological impairment is notably severe and disabling, concerning the central and ...
Bahi-Buisson, N, Barnerias, C, Boddaert, N, de Lonlay, P, Eisermann, M, Kaminska, A, Nabbout, R, Pereira, AG   +7 more
core   +1 more source

SLC37A4‐CDG: Second patient

JIMD Reports, 2021
Recently, a disorder caused by the heterozygous de novo c.1267C>T (p.R423*) substitution in SLC37A4 has been described. This causes mislocalization of the glucose‐6‐phosphate transporter to the Golgi leading to a congenital disorder of glycosylation type 
Matthew P. Wilson, Dulce Quelhas, Elisa Leão‐Teles, Luisa Sturiale, Daisy Rymen, Liesbeth Keldermans, Valérie Race, Erika Souche, Esmeralda Rodrigues, Teresa Campos, Emile Van Schaftingen, François Foulquier, Domenico Garozzo, Gert Matthijs, Jaak Jaeken   +14 more
doaj   +1 more source

Macular hypoplasia in congenital disorder of glycosylation type 1a [PDF]

, 2012
Congenital disorders of glycosylation are a rare group of metabolic disorders that can result in multiorgan disease. This article describes a novel finding of macular hypoplasia in congenital disorders of glycosylation type ...
Siriwardana, Pradeep, Taranath, Deepa A, Wang, Bob Z   +2 more
core   +3 more sources

Congenital disorder of glycosylation – one size does not fit all: a parent’s perspective

Therapeutic Advances in Rare Disease, 2022
This article is written by the parent of a child living with PMM2 -congenital disorder of glycosylation (abbreviated to PMM2 -CDG). It provides a parental perspective of the journey taken from diagnosis to present day and details the effect of off-label ...
Konstantin Feinberg
doaj   +1 more source

MPI‐CDG from a hepatic perspective: Report of two Egyptian cases and review of literature

JIMD Reports, 2020
MPI‐CDG is a rare congenital disorder of glycosylation (CDG) which presents with hepato‐gastrointestinal symptoms and hypoglycemia. We report on hepatic evaluation of two pediatric patients who presented to us with gastrointestinal symptoms.
Tawhida Y. Abdel Ghaffar, Bobby G. Ng, Solaf M. Elsayed, Suzan El Naghi, Sarah Helmy, Nermine Mohammed, Ahmed El Hennawy, Hudson H. Freeze   +7 more
doaj   +1 more source