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Stefan Kölker

Arzt

Name	Stefan Kölker
Place	Heidelberg (Wirkungsort) Deutschland
Gender	männlich
Academic degree	Prof. Dr. med.
Profession	Arzt (characteristic profession)
Variant	Stefan Koelker S. Kölker
Related	Universität Heidelberg. Klinikum
Further information	Oberarzt, Klinik Kinderheilkunde I, Zentrum für Kinder- und Jugendmedizin Heidelberg, Universitätsklinikum Heidelberg
Record type	Person
GND-Identifier	1022937758
Record ID	1022937758
Involved in show all Validating novel targets for substrate reduction therapy in glutaric aciduria type I Effects of anserine on oxidative stress and on cell barrier integrity in methylmalonic aciduria Towards genomic newborn screening, part II: outlining a normative framework Towards genomic newborn screening, part I: Mapping the ethical issues Cystathionine β-synthase deficiency in the E‐HOD registry - part II: dietary and pharmacological treatment = Cystathionine [beta]-synthase deficiency in the E‐HOD registry - part II: dietary and pharmacological treatment Parental and child's psychosocial and financial burden living with an inherited metabolic disease identified by newborn screening Recommendations for diagnosing and managing individuals with glutaric aciduria type 1 : Third revision Transforming growth factor‐β‐mediated fibrotic remodeling drives chronic kidney disease in methylmalonic aciduria and propionic aciduria - identification of a new therapeutic target Systematic quantitative modeling of the natural history of Aicardi syndrome: A cross sectional study of 245 published cases Genetic landscape of pediatric acute liver failure of indeterminate origin NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency Neurological outcome in long‐chain hydroxy fatty acid oxidation disorders Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders Evaluierung und Optimierung des Neugeborenenscreenings mittels strukturierter Langzeitbeobachtung – am Beispiel der angeborenen Stoffwechselerkrankungen Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples Isovaleric aciduria identified by newborn screening: strategies to predict disease severity and stratify treatment Long‐term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening The impact of metabolic stressors on mitochondrial homeostasis in a renal epithelial cell model of methylmalonic aciduria Erratum zu: Die intrazerebrale Gentherapie des Aromatischen-L-Aminosäure-Decarboxylase-Mangels mit Eladocagene exuparvovec. Eine Stellungnahme der Gesellschaft für Neuropädiatrie (GNP), der Arbeitsgemeinschaft pädiatrischer Stoffwechselstörungen (APS), der Deutschen Gesellschaft für Neurochirurgie (DGNC) und der Deutschen Gesellschaft für Kinder- und Jugendmedizin (DGKJ) Sudden neonatal death in individuals with medium-chain acyl-coenzyme A dehydrogenase deficiency: limit of newborn screening From newborn screening to genomic medicine: challenges and suggestions on how to incorporate genomic newborn screening in public health programs Efficacy, tolerability, and retention of antiseizure medications in PRRT2-associated infantile epilepsy Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria 1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency Die intrazerebrale Gentherapie des Aromatischen-L-Aminosäure-Decarboxylase-Mangels mit Eladocagene exuparvovec : Eine Stellungnahme der Gesellschaft für Neuropädiatrie (GNP), der Arbeitsgemeinschaft pädiatrischer Stoffwechselstörungen (APS), der Deutschen Gesellschaft für Neurochirurgie (DGNC) und der Deutschen Gesellschaft für Kinder- und Jugendmedizin (DGKJ) U-IMD: the first Unified European registry for inherited metabolic diseases Die intrazerebrale Gentherapie des Aromatischen-L-Aminosäure-Decarboxylase-Mangels mit Eladocagene exuparvovec : Eine Stellungnahme der Gesellschaft für Neuropädiatrie (GNP), der Arbeitsgemeinschaft pädiatrischer Stoffwechselstörungen (APS), der Deutschen Gesellschaft für Neurochirurgie (DGNC) und der Deutschen Gesellschaft für Kinder- und Jugendmedizin (DGKJ) Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder Mitochondrial damage in renal epithelial cells is potentiated by protein exposure in propionic aciduria Newborn screening and disease variants predictneurological outcome in isovaleric aciduria Organic acidurias: major gaps, new challenges, and a yet unfulfilled promise Pathomechanismen der chronischen Hyperammonämie in Danio rerio Publisher correction: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study Refining genotypes and phenotypes in KCNA2-related neurological disorders The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathies Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1 Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls: results of NMR metabolomics investigation Axenfeld-Rieger Anomaly and Neuropsychiatric Problems—More than Meets the Eye The phenotypic spectrum of PRRT2-associated paroxysmal neurologic disorders in childhood The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age – a multicenter retrospective study High blood pressure, a red flag for the neonatal manifestation of urea cycle disorders Clinical characteristics of 248 patients with Krabbe disease: quantitative natural history modeling based on published cases Targeted metabolic profiling of methionine cycle metabolites and redox thiol pools in mammalian plasma, cells and urine Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—a successful strategy for clinical research of rare diseases A cross-sectional quantitative analysis of the natural history of free sialic acid storage disease—an ultra-orphan multisystemic lysosomal storage disorder Metabolism of amino acid neurotransmitters: the synaptic disorder underlying inherited metabolic diseases Patterns, evolution, and severity of striatal injury in insidious- versus acute-onset glutaric aciduria type 1 SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN) Organic acidurias in adults: late complications and management Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders Age-Related Changes and Reference Values of Bicaudate Ratio and Sagittal Brainstem Diameters on MRI Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias Impairment of astrocytic glutaminolysis in glutaric aciduria type I Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders Incidence, disease onset and short-term outcome in urea cycle disorders –cross-border surveillance in Germany, Austria and Switzerland

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Katalog der Deutschen Nationalbibliothek

Stefan Kölker

Validating novel targets for substrate reduction therapy in glutaric aciduria type I

Effects of anserine on oxidative stress and on cell barrier integrity in methylmalonic aciduria

Towards genomic newborn screening, part II: outlining a normative framework

Towards genomic newborn screening, part I: Mapping the ethical issues

Cystathionine β-synthase deficiency in the E‐HOD registry - part II: dietary and pharmacological treatment = Cystathionine [beta]-synthase deficiency in the E‐HOD registry - part II: dietary and pharmacological treatment

Parental and child's psychosocial and financial burden living with an inherited metabolic disease identified by newborn screening

Recommendations for diagnosing and managing individuals with glutaric aciduria type 1 : Third revision

Transforming growth factor‐β‐mediated fibrotic remodeling drives chronic kidney disease in methylmalonic aciduria and propionic aciduria - identification of a new therapeutic target

Systematic quantitative modeling of the natural history of Aicardi syndrome: A cross sectional study of 245 published cases

Genetic landscape of pediatric acute liver failure of indeterminate origin

NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency

Neurological outcome in long‐chain hydroxy fatty acid oxidation disorders

Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias

Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders

Evaluierung und Optimierung des Neugeborenenscreenings mittels strukturierter Langzeitbeobachtung – am Beispiel der angeborenen Stoffwechselerkrankungen

Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples

Isovaleric aciduria identified by newborn screening: strategies to predict disease severity and stratify treatment

Long‐term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening

The impact of metabolic stressors on mitochondrial homeostasis in a renal epithelial cell model of methylmalonic aciduria

Sudden neonatal death in individuals with medium-chain acyl-coenzyme A dehydrogenase deficiency: limit of newborn screening

From newborn screening to genomic medicine: challenges and suggestions on how to incorporate genomic newborn screening in public health programs

Efficacy, tolerability, and retention of antiseizure medications in PRRT2-associated infantile epilepsy

Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria

1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy

NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency

U-IMD: the first Unified European registry for inherited metabolic diseases

Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder

Mitochondrial damage in renal epithelial cells is potentiated by protein exposure in propionic aciduria

Newborn screening and disease variants predictneurological outcome in isovaleric aciduria

Organic acidurias: major gaps, new challenges, and a yet unfulfilled promise

Pathomechanismen der chronischen Hyperammonämie in Danio rerio

Publisher correction: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study

Refining genotypes and phenotypes in KCNA2-related neurological disorders

The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study

Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathies

Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1

Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls: results of NMR metabolomics investigation

Axenfeld-Rieger Anomaly and Neuropsychiatric Problems—More than Meets the Eye

The phenotypic spectrum of PRRT2-associated paroxysmal neurologic disorders in childhood

The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood

Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age – a multicenter retrospective study

High blood pressure, a red flag for the neonatal manifestation of urea cycle disorders

Clinical characteristics of 248 patients with Krabbe disease: quantitative natural history modeling based on published cases

Targeted metabolic profiling of methionine cycle metabolites and redox thiol pools in mammalian plasma, cells and urine

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry

Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—a successful strategy for clinical research of rare diseases

A cross-sectional quantitative analysis of the natural history of free sialic acid storage disease—an ultra-orphan multisystemic lysosomal storage disorder

Metabolism of amino acid neurotransmitters: the synaptic disorder underlying inherited metabolic diseases

Patterns, evolution, and severity of striatal injury in insidious- versus acute-onset glutaric aciduria type 1

SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)

Organic acidurias in adults: late complications and management

Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders

Age-Related Changes and Reference Values of Bicaudate Ratio and Sagittal Brainstem Diameters on MRI

Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias

Impairment of astrocytic glutaminolysis in glutaric aciduria type I

Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders

Incidence, disease onset and short-term outcome in urea cycle disorders –cross-border surveillance in Germany, Austria and Switzerland