Konstantinos Tsiakas
Overview
Explore the profile of Konstantinos Tsiakas including associated specialties, affiliations and a list of published articles.
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25
Citations
588
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Recent Articles
1.
Inhestern L, Otto R, Brandt M, Zybarth D, Oheim R, Schuler H, et al.
Orphanet J Rare Dis
. 2024 May;
19(1):197.
PMID: 38741100
Background: Rare diseases are often complex, chronic and many of them life-shortening. In Germany, healthcare for rare diseases is organized in expert centers for rare diseases. Most patients additionally have...
2.
van der Ven A, Cabrera-Orefice A, Wente I, Feichtinger R, Tsiakas K, Weiss D, et al.
Mol Genet Metab
. 2023 Aug;
140(3):107675.
PMID: 37572574
Recessive variants in NDUFAF3 are a known cause of complex I (CI)-related mitochondrial disorders (MDs). The seven patients reported to date exhibited severe neurologic symptoms and lactic acidosis, followed by...
3.
Murko S, Peschka M, Tsiakas K, Schulz-Jurgensen S, Herden U, Santer R
Mol Genet Metab Rep
. 2023 Jun;
35:100977.
PMID: 37275680
We report on liver transplantation in two patients with GSD Ib on treatment with empagliflozin. The use of this SGLT2 inhibitor resulted in a marked decrease of 1,5-anhydroglucitol which has...
4.
Park J, Nordstrom U, Tsiakas K, Keskin I, Elpers C, Mannil M, et al.
Brain Commun
. 2023 Feb;
5(1):fcad017.
PMID: 36793789
Superoxide dismutase-1 is a ubiquitously expressed antioxidant enzyme. Mutations in can cause amyotrophic lateral sclerosis, probably via a toxic gain-of-function involving protein aggregation and prion-like mechanisms. Recently, homozygosity for loss-of-function...
5.
Wolfel E, von Kroge S, Matthies L, Koehne T, Petz K, Beikler T, et al.
Calcif Tissue Int
. 2022 Nov;
112(3):308-319.
PMID: 36414794
Hypophosphatasia (HPP) is an inherited, systemic disorder, caused by loss-of-function variants of the ALPL gene encoding the enzyme tissue non-specific alkaline phosphatase (TNSALP). HPP is characterized by low serum TNSALP...
6.
Arribas-Carreira L, Dallabona C, Swanson M, Farris J, Ostergaard E, Tsiakas K, et al.
Hum Mol Genet
. 2022 Oct;
32(6):917-933.
PMID: 36190515
Maintaining protein lipoylation is vital for cell metabolism. The H-protein encoded by GCSH has a dual role in protein lipoylation required for bioenergetic enzymes including pyruvate dehydrogenase and 2-ketoglutarate dehydrogenase,...
7.
Grunert S, Schumann A, Baronio F, Tsiakas K, Murko S, Spiekerkoetter U, et al.
Genes (Basel)
. 2021 Nov;
12(11).
PMID: 34828390
Fanconi-Bickel syndrome (FBS) is a very rare but distinct clinical entity with the combined features of hepatic glycogen storage disease, generalized proximal renal tubular dysfunction with disproportionately severe glucosuria, and...
8.
van der Ven A, Johannsen J, Kortum F, Wagner M, Tsiakas K, Bierhals T, et al.
Clin Genet
. 2021 Sep;
100(6):766-770.
PMID: 34490615
Neurological symptoms are frequent and often a leading feature of childhood-onset mitochondrial disorders (MD) but the exact incidence of MD in unselected neuropediatric patients is unknown. Their early detection is...
9.
Brennenstuhl H, Nashawi M, Schroter J, Baronio F, Beedgen L, Gleich F, et al.
J Inherit Metab Dis
. 2021 Jun;
44(5):1272-1287.
PMID: 34145613
Mevalonic aciduria (MVA) and hyperimmunoglobulinemia D syndrome (MKD/HIDS) are disorders of cholesterol biosynthesis caused by variants in the MVK gene and characterized by increased urinary excretion of mevalonic acid. So...
10.
Grunert S, Eckenweiler M, Haas D, Lindner M, Tsiakas K, Santer R, et al.
J Inherit Metab Dis
. 2021 Feb;
44(4):893-902.
PMID: 33638202
Peripheral neuropathy is a known irreversible long-term complication of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) and mitochondrial trifunctional protein deficiency (MTPD), two inherited disorders of mitochondrial long-chain fatty acid oxidation. The...