G Matthijs
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Explore the profile of G Matthijs including associated specialties, affiliations and a list of published articles.
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148
Citations
2917
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Recent Articles
1.
Lebredonchel E, Riquet A, Neut D, Broly F, Matthijs G, Klein A, et al.
Ital J Pediatr
. 2022 Oct;
48(1):178.
PMID: 36221102
Background: Congenital Disorders of Glycosylation (CDG) are a large group of inborn errors of metabolism with more than 140 different CDG types reported to date (1). The first characterized, PMM2-CDG,...
2.
Quelhas D, Jaeken J, Fortuna A, Azevedo L, Bandeira A, Matthijs G, et al.
JIMD Rep
. 2018 Jun;
43:111-116.
PMID: 29923091
This report is on two novel patients with RFT1-CDG. Their phenotype is characterized by mild psychomotor disability, behavioral problems, ataxia, and mild dysmorphism. Neither of them shows signs of epilepsy,...
3.
Regal L, van Hasselt P, Foulquier F, Cuppen I, Prinsen H, Jansen K, et al.
Mol Genet Metab Rep
. 2017 Jun;
2:16-19.
PMID: 28649519
We report on two novel patients with ALG11-CDG. The phenotype was characterized by severe psychomotor disability, progressive microcephaly, sensorineural hearing loss, therapy-resistant epilepsy with burst suppression EEG, cerebral atrophy with,...
4.
De Smedt L, Lemahieu J, Palmans S, Govaere O, Tousseyn T, Van Cutsem E, et al.
Br J Cancer
. 2015 Jun;
113(3):500-9.
PMID: 26068398
Background: Microsatellite instability (MSI) accounts for 15% of all colorectal tumours. Several specific clinicopathologicals (e.g., preference for the proximal colon over the distal colon, improved prognosis and altered response to...
5.
Kucukcongar A, Tumer L, Ezgu F, Kasapkara C, Jaeken J, Matthijs G, et al.
Genet Couns
. 2015 Jun;
26(1):87-90.
PMID: 26043514
No abstract available.
6.
Barone R, Carrozzi M, Parini R, Battini R, Martinelli D, Elia M, et al.
J Neurol
. 2014 Oct;
262(1):154-64.
PMID: 25355454
PMM2-CDG (PMM2 gene mutations) is the most common congenital disorder of N-glycosylation. We conducted a nationwide survey to characterize the frequency, clinical features, glycosylation and genetic correlates in Italian patients...
7.
Yuste-Checa P, Medrano C, Gamez A, Desviat L, Matthijs G, Ugarte M, et al.
Clin Genet
. 2014 Apr;
87(1):42-8.
PMID: 24720419
Deficiencies in glycosyltransferases, glycosidases or nucleotide-sugar transporters involved in protein glycosylation lead to congenital disorders of glycosylation (CDG), a group of genetic diseases mostly showing multisystem phenotype. Despite recent advances...
8.
Huybrechts S, De Laet C, Bontems P, Rooze S, Souayah H, Sznajer Y, et al.
JIMD Rep
. 2013 Feb;
4:103-8.
PMID: 23430903
We describe a 27-month-old girl with COG6 deficiency. She is the first child of healthy consanguineous Moroccan parents. She presented at birth with dysmorphic features including microcephaly, post-axial polydactyly, broad...
9.
Fung C, Matthijs G, Sturiale L, Garozzo D, Wong K, Wong R, et al.
JIMD Rep
. 2013 Feb;
3:67-70.
PMID: 23430875
The conserved oligomeric Golgi (COG) complex is an eight subunit protein involved in the retrograde transport of Golgi components. It affects the localization of several Golgi glycosyltransferases and hence is...
10.
Perez B, Briones P, Quelhas D, Artuch R, Vega A, Quintana E, et al.
JIMD Rep
. 2013 Feb;
1:117-23.
PMID: 23430838
PMM2-CDG is an autosomal recessive disorder and the most frequent form of congenital disorder of N-glycosylation, with more than 100 mutations identified to date. Sixty-six patients from 58 unrelated families...