WorldCat Identities

Kölker, Stefan

Overview
Works: 56 works in 67 publications in 1 language and 109 library holdings
Roles: Other, Contributor, Author, dgs
Classifications: R1, 616.3
Publication Timeline
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Most widely held works by Stefan Kölker
Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective study by Afshin Saffari( )

3 editions published in 2019 in English and held by 4 WorldCat member libraries worldwide

Tuberous sclerosis complex (TSC) is a multisystem disease with prominent neurologic manifestations such as epilepsy, cognitive impairment and autism spectrum disorder. mTOR inhibitors have successfully been used to treat TSC-related manifestations in older children and adults. However, data on their safety and efficacy in infants and young children are scarce. The objective of this study is to assess the utility and safety of mTOR inhibitor treatment in TSC patients under the age of 2)years
Incidence, disease onset and short-term outcome in urea cycle disorders -cross-border surveillance in Germany, Austria and Switzerland by Susanne Nettesheim( )

3 editions published in 2017 in English and held by 4 WorldCat member libraries worldwide

A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I by Nikolas Boy( )

3 editions published between 2015 and 2016 in English and held by 4 WorldCat member libraries worldwide

Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity by Nikolas Boy( )

3 editions published in 2017 in English and held by 4 WorldCat member libraries worldwide

High blood pressure, a red flag for the neonatal manifestation of urea cycle disorders by Ulrike Teufel( )

2 editions published in 2019 in English and held by 4 WorldCat member libraries worldwide

Organic acidurias: major gaps, new challenges, and a yet unfulfilled promise by Bianca Dimitrov( )

1 edition published in 2021 in English and held by 3 WorldCat member libraries worldwide

Abstract: Organic acidurias (OADs) comprise a biochemically defined group of inherited metabolic diseases. Increasing awareness, reliable diagnostic work-up, newborn screening programs for some OADs, optimized neonatal and intensive care, and the development of evidence-based recommendations have improved neonatal survival and short-term outcome of affected individuals. However, chronic progression of organ dysfunction in an aging patient population cannot be reliably prevented with traditional therapeutic measures. Evidence is increasing that disease progression might be best explained by mitochondrial dysfunction. Previous studies have demonstrated that some toxic metabolites target mitochondrial proteins inducing synergistic bioenergetic impairment. Although these potentially reversible mechanisms help to understand the development of acute metabolic decompensations during catabolic state, they currently cannot completely explain disease progression with age. Recent studies identified unbalanced autophagy as a novel mechanism in the renal pathology of methylmalonic aciduria, resulting in impaired quality control of organelles, mitochondrial aging and, subsequently, progressive organ dysfunction. In addition, the discovery of post-translational short-chain lysine acylation of histones and mitochondrial enzymes helps to understand how intracellular key metabolites modulate gene expression and enzyme function. While acylation is considered an important mechanism for metabolic adaptation, the chronic accumulation of potential substrates of short-chain lysine acylation in inherited metabolic diseases might exert the opposite effect, in the long run. Recently, changed glutarylation patterns of mitochondrial proteins have been demonstrated in glutaric aciduria type 1. These new insights might bridge the gap between natural history and pathophysiology in OADs, and their exploitation for the development of targeted therapies seems promising
Newborn screening by tandem mass spectrometry for glutaric aciduria type 1: a cost-effectiveness analysis by Johannes Pfeil( )

2 editions published between 2013 and 2016 in English and held by 3 WorldCat member libraries worldwide

Refining genotypes and phenotypes in KCNA2-related neurological disorders by Jan-Henje Döring( )

1 edition published in 2021 in English and held by 3 WorldCat member libraries worldwide

Abstract: Pathogenic variants in KCNA2, encoding for the voltage-gated potassium channel Kv1.2, have been identified as the cause for an evolving spectrum of neurological disorders. Affected individuals show early-onset developmental and epileptic encephalopathy, intellectual disability, and movement disorders resulting from cerebellar dysfunction. In addition, individuals with a milder course of epilepsy, complicated hereditary spastic paraplegia, and episodic ataxia have been reported. By analyzing phenotypic, functional, and genetic data from published reports and novel cases, we refine and further delineate phenotypic as well as functional subgroups of KCNA2-associated disorders. Carriers of variants, leading to complex and mixed channel dysfunction that are associated with a gain- and loss-of-potassium conductance, more often show early developmental abnormalities and an earlier onset of epilepsy compared to individuals with variants resulting in loss- or gain-of-function. We describe seven additional individuals harboring three known and the novel KCNA2 variants p.(Pro407Ala) and p.(Tyr417Cys). The location of variants reported here highlights the importance of the proline(405)-valine(406)-proline(407) (PVP) motif in transmembrane domain S6 as a mutational hotspot. A novel case of self-limited infantile seizures suggests a continuous clinical spectrum of KCNA2-related disorders. Our study provides further insights into the clinical spectrum, genotype-phenotype correlation, variability, and predicted functional impact of KCNA2 variants
Targeted metabolic profiling of methionine cycle metabolites and redox thiol pools in mammalian plasma, cells and urine by Sidney Behringer( )

2 editions published in 2019 in English and held by 3 WorldCat member libraries worldwide

Abstract: The concentration of thiol and thioether metabolites in plasma has diagnostic value in genetic diseases of B-vitamin metabolism linked to methionine utilization. Among these, cysteine/cystine (Cys/CSSC) and glutathione/oxidized glutathione (GSH/GSSG) act as cellular redox buffers. A new LC-MS/MS method was developed for the simultaneous detection of cystathionine (Cysta), methionine (Met), methionine sulfoxide (MSO), creatinine and the reduced and oxidized pairs of homocysteine (Hcy/HSSH), cysteine (Cys/CSSC) and glutathione (GSH/GSSG). A one-step thiol-blocking protocol with minimal sample preparation was established to determine redox thiol pairs in plasma and cells. The concentrations of diagnostic biomarkers Hcy, Met, Cysta, and Cys in a cohort of healthy adults (n = 53) agreed with reference ranges and published values. Metabolite concentrations were also validated in commercial samples of human, mouse, rat and Beagle dog plasma and by the use of a standardized ERNDIM quality control. Analysis of fibroblasts, endothelial and epithelial cells, human embryonic stem cells, and cancer cell lines showed cell specificity for both the speciation and concentration of thiol and thioether metabolites. This LC-MS/MS platform permits the fast and simultaneous quantification of 10 thiol and thioether metabolites and creatinine using 40 µL plasma, urine or culture medium, or 500,000 cells. The sample preparation protocols are directly transferable to automated metabolomic platforms
Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias by Additional individual contributors of the E-IMD consortium( )

1 edition published in 2017 in English and held by 2 WorldCat member libraries worldwide

Metabolism of amino acid neurotransmitters: the synaptic disorder underlying inherited metabolic diseases by Stefan Kölker( )

1 edition published in 2018 in English and held by 2 WorldCat member libraries worldwide

Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options by Christian Staufner( )

1 edition published in 2015 in English and held by 2 WorldCat member libraries worldwide

Cross-sectional observational study of 208 patients with non-classical urea cycle disorders by Corinne Maria Rüegger( )

1 edition published in 2013 in English and held by 2 WorldCat member libraries worldwide

Impact of age at onset and newborn screening on outcome in organic acidurias by Additional individual contributors of the E-IMD consortium( )

1 edition published in 2015 in English and held by 2 WorldCat member libraries worldwide

<> by Dominic Lenz( )

1 edition published in 2018 in English and held by 2 WorldCat member libraries worldwide

Abstracts of the 52nd Workshop for Pediatric Research Frankfurt, Germany. 27-28 October 2016 by Rhea Van den Bruck( )

1 edition published in 2017 in English and held by 2 WorldCat member libraries worldwide

Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders by Jochen Meyburg( )

1 edition published in 2017 in English and held by 2 WorldCat member libraries worldwide

Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders by on behalf of the E-IMD consortium( )

1 edition published in 2015 in English and held by 2 WorldCat member libraries worldwide

Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders by Additional individual contributors of the E-IMD consortium( )

1 edition published in 2018 in English and held by 2 WorldCat member libraries worldwide

Genetic cause and prevalence of hydroxyprolinemia by Christian Staufner( )

1 edition published in 2016 in English and held by 2 WorldCat member libraries worldwide

 
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WorldCat IdentitiesRelated Identities
Alternative Names
Koelker, Stefan

Stefan Kölker wetenschapper

Languages
English (31)