Erik A Eklund
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Explore the profile of Erik A Eklund including associated specialties, affiliations and a list of published articles.
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56
Citations
818
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Recent Articles
1.
Quiroz V, Planas-Serra L, Sveden A, Tam A, Kim H, Zubair U, et al.
J Clin Invest
. 2024 Jul;
134(17).
PMID: 38990652
No abstract available.
2.
Lam C, Scaglia F, Berry G, Larson A, Sarafoglou K, Andersson H, et al.
Mol Genet Metab
. 2024 Jul;
142(4):108509.
PMID: 38959600
Objective: Our report describes clinical, genetic, and biochemical features of participants with a molecularly confirmed congenital disorder of glycosylation (CDG) enrolled in the Frontiers in Congenital Disorders of Glycosylation (FCDGC)...
3.
Hellstrom Schmidt S, A Eklund E, Pronk C
Lakartidningen
. 2024 Jun;
121.
PMID: 38836364
Witnessing breath-holding spells (BHS) can be distressing and patients with BHS disproportionately consume a substantial amount of health care resources. Common among preschool children, BHS follow a distinct sequence of...
4.
Pearsson K, A Eklund E, Rask O, Compagno-Strandberg M
Epilepsy Behav
. 2024 Jun;
157:109875.
PMID: 38824750
Background: Drug-resistant epilepsy (DRE) in selected individuals with the rare tuberous sclerosis complex (TSC) may benefit from resective epilepsy surgery. Furthermore, associated neuropsychiatric disorders (TAND) are common in patients with...
5.
Shah R, A Eklund E, Radenkovic S, Sadek M, Shammas I, Verberkmoes S, et al.
Mol Genet Metab
. 2024 May;
142(2):108472.
PMID: 38703411
ALG13-Congenital Disorder of Glycosylation (CDG), is a rare X-linked CDG caused by pathogenic variants in ALG13 (OMIM 300776) that affects the N-linked glycosylation pathway. Affected individuals present with a predominantly...
6.
Orfanos I, Chytilova V, A Eklund E
Acta Paediatr
. 2024 Apr;
113(7):1630-1636.
PMID: 38591428
Aim: To describe the aetiology and clinical characteristics of acute peripheral facial palsy (PFP) in children and investigate the utility of the European Federation of Neurological Societies (EFNS) criteria for...
7.
Savvidou A, Sofou K, A Eklund E, Aronsson J, Darin N
Eur J Neurol
. 2024 Mar;
31(7):e16283.
PMID: 38497591
Background And Purpose: Pyruvate dehydrogenase complex deficiency is in up to 90% caused by pathogenic variants in the X-linked PDHA1 gene. We aimed to investigate female relatives of index patients...
8.
Westerlund E, Marelsson S, Karlsson M, Sjovall F, Chamkha I, Asander Frostner E, et al.
Heliyon
. 2024 Mar;
10(5):e26745.
PMID: 38439844
There is a growing interest for the possibility of using peripheral blood cells (including platelets) as markers for mitochondrial function in less accessible tissues. Only a few studies have examined...
9.
Schoenmakers D, Mochel F, Adang L, Boelens J, Calbi V, A Eklund E, et al.
Orphanet J Rare Dis
. 2024 Feb;
19(1):46.
PMID: 38326898
Background: For decades, early allogeneic stem cell transplantation (HSCT) has been used to slow neurological decline in metachromatic leukodystrophy (MLD). There is lack of consensus regarding who may benefit, and...
10.
Hellstrom Schmidt S, Smedenmark J, Jeremiasen I, Sigurdsson B, A Eklund E, Pronk C
Acta Paediatr
. 2023 Oct;
113(2):317-326.
PMID: 37905418
Aim: Breath-holding spells (BHS) are common in children, but evidence-based clinical guidelines are lacking. We investigated a large population-based cohort of BHS patients, to propose a refined description of typical...