J Jaeken
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Explore the profile of J Jaeken including associated specialties, affiliations and a list of published articles.
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255
Citations
3314
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Recent Articles
1.
Mertens L, Kasmi T, Bekkering G, Hannes K, Vermandere M, Delvaux N, et al.
Patient Educ Couns
. 2024 Nov;
130:108475.
PMID: 39504804
Objective: We aim to provide an updated literature overview on patient-reported barriers and facilitators to participation in SDM across different patient groups and healthcare settings to uncover the 'common ground'...
2.
Pascoal C, Ferreira I, Teixeira C, Almeida E, Slade A, Brasil S, et al.
Orphanet J Rare Dis
. 2022 Oct;
17(1):398.
PMID: 36309700
Background: Congenital disorders of glycosylation (CDG) are a growing group of rare genetic disorders. The most common CDG is phosphomannomutase 2 (PMM2)-CDG which often has a severe clinical presentation and...
3.
Quelhas D, Carneiro J, Lopes-Marques M, Jaeken J, Martins E, Rocha J, et al.
Mol Genet Metab
. 2021 Dec;
134(4):344-352.
PMID: 34863624
Phosphomannomutase 2 deficiency, PMM2-CDG, is the most frequent disorder of protein N-glycosylation. It is an autosomal recessive disease with a broad clinical and biochemical phenotype. Trying to predict the impact...
4.
Francisco R, Marques-da-Silva D, Brasil S, Pascoal C, Dos Reis Ferreira V, Morava E, et al.
Mol Genet Metab
. 2018 Nov;
126(1):1-5.
PMID: 30454869
Congenital disorders of glycosylation (CDG) are a rapidly growing family of genetic diseases that currently includes some 130 different types. CDG diagnosis is a challenge, not only because of this...
5.
Marques-da-Silva D, Francisco R, Dos Reis Ferreira V, Forbat L, Lagoa R, Videira P, et al.
JIMD Rep
. 2018 Jul;
44:55-64.
PMID: 30008170
Congenital disorders of glycosylation (CDG) are ultra-rare diseases showing a great phenotypic diversity ranging from mono- to multi-organ/multisystem involvement. Liver involvement, mostly nonprogressive, is often reported in CDG patients. The...
6.
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,...
7.
Marques-da-Silva D, Francisco R, Webster D, Dos Reis Ferreira V, Jaeken J, Pulinilkunnil T
J Inherit Metab Dis
. 2017 Jul;
40(5):657-672.
PMID: 28726068
Congenital disorders of glycosylation (CDG) are inborn errors of metabolism due to protein and lipid hypoglycosylation. This rapidly growing family of genetic diseases comprises 103 CDG types, with a broad...
8.
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,...
9.
Palmigiano A, Bua R, Barone R, Rymen D, Regal L, Deconinck N, et al.
J Mass Spectrom
. 2017 Apr;
52(6):372-377.
PMID: 28444691
Congenital disorders of glycosylation (CDG) are due to defective glycosylation of glycoconjugates. Conserved oligomeric Golgi (COG)-CDG are genetic diseases due to defects of the COG complex subunits 1-8 causing N-glycan...
10.
Nambot S, Gavrilov D, Thevenon J, Bruel A, Bainbridge M, Rio M, et al.
Clin Genet
. 2017 Feb;
92(2):188-198.
PMID: 28155230
Background: Alterations in GFER gene have been associated with progressive mitochondrial myopathy, congenital cataracts, hearing loss, developmental delay, lactic acidosis and respiratory chain deficiency in 3 siblings born to consanguineous...