Alma Sikiric
Overview
Explore the profile of Alma Sikiric including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
6
Citations
51
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Arntsen V, Jamali A, Sikiric A, Kristensen E, Tangeraas T, Kupliauskiene G, et al.
Front Neurol
. 2024 Feb;
15:1355861.
PMID: 38419708
Purpose: Pyridoxine-dependent epilepsy due to variants (PDE-ALDH7A1) is a rare disorder, presenting typically with severe neonatal, epileptic encephalopathy. Early diagnosis is imperative to prevent uncontrolled seizures. We have explored the...
2.
Jamali A, Kristensen E, Tangeraas T, Arntsen V, Sikiric A, Kupliauskiene G, et al.
Epilepsy Res
. 2023 Mar;
198:107113.
PMID: 36906427
No abstract available.
3.
Jamali A, Kristensen E, Tangeraas T, Arntsen V, Sikiric A, Kupliauskiene G, et al.
Epilepsy Res
. 2023 Feb;
190:107099.
PMID: 36731270
Background: Pyridoxine-dependent epilepsy (PDE) is a rare seizure disorder usually presenting with neonatal seizures. Most cases are caused by biallelic pathogenic ALDH7A1variants. While anti-seizure medications are ineffective, pyridoxine provides seizure...
4.
Epting D, Senaratne L, Ott E, Holmgren A, Sumathipala D, Larsen S, et al.
Hum Mutat
. 2020 Nov;
41(12):2179-2194.
PMID: 33131181
Ciliopathies are clinically and genetically heterogeneous diseases. We studied three patients from two independent families presenting with features of Joubert syndrome: abnormal breathing pattern during infancy, developmental delay/intellectual disability, cerebellar...
5.
Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder
Bjorgo K, Fjaer R, Mork H, Ferdinandusse S, Falkenberg K, Waterham H, et al.
Mol Genet Metab
. 2017 Jul;
121(4):325-328.
PMID: 28673549
Patients with PEX3 mutations usually present with a severe form of Zellweger spectrum disorder with death in the first year of life. Whole exome sequencing in adult siblings with intellectual...
6.
Koehler K, Malik M, Mahmood S, Giesselmann S, Beetz C, Hennings J, et al.
Am J Hum Genet
. 2013 Sep;
93(4):727-34.
PMID: 24035193
In guanosine diphosphate (GDP)-mannose pyrophosphorylase A (GMPPA), we identified a homozygous nonsense mutation that segregated with achalasia and alacrima, delayed developmental milestones, and gait abnormalities in a consanguineous Pakistani pedigree....