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List of works by Stefan Kölker

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Diagnosis and management of glutaric aciduria type I – revised recommendations

scientific article published on March 23, 2011
Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency

scientific article (publication date: June 2006)
Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB).

scientific article
Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins.

scientific article published on August 2006
Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency

scientific article published on 29 March 2006
Use of guidelines improves the neurological outcome in glutaric aciduria type I.

scientific article published on November 2010
Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.

scientific article published on 11 May 2009
Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicity

scientific article
Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohort

scientific article published on 2 February 2005
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

scientific article published on 15 April 2015
NMDA receptor activation and respiratory chain complex V inhibition contribute to neurodegeneration in d-2-hydroxyglutaric aciduria

scientific article published in July 2002
Iron Regulatory Proteins Secure Mitochondrial Iron Sufficiency and Function

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

scientific article published on 15 April 2015
Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany

scientific article
Bioenergetics in glutaryl-coenzyme A dehydrogenase deficiency: a role for glutaryl-coenzyme A.

scientific article published on 19 April 2005
Pathomechanisms of neurodegeneration in glutaryl-CoA dehydrogenase deficiency

scientific article published on January 2004
Therapeutic modulation of cerebral l-lysine metabolism in a mouse model for glutaric aciduria type I

scientific article published on October 4, 2010
A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival

scientific article
DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria

scientific article
Impaired Mitochondrial Dynamics and Mitophagy in Neuronal Models of Tuberous Sclerosis Complex

scientific article published on October 2016
Chronic treatment with glutaric acid induces partial tolerance to excitotoxicity in neuronal cultures from chick embryo telencephalons

scientific article
Deorphanization of GPR109B as a receptor for the beta-oxidation intermediate 3-OH-octanoic acid and its role in the regulation of lipolysis

scientific article
Methylmalonic acid, a biochemical hallmark of methylmalonic acidurias but no inhibitor of mitochondrial respiratory chain

scientific article published on 12 September 2003
Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy

scientific article published on 13 July 2016
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.

scientific article published on 16 November 2016
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

scientific article
Glutaric aciduria type I and methylmalonic aciduria: Simulation of cerebral import and export of accumulating neurotoxic dicarboxylic acids in in vitro models of the blood–brain barrier and the choroid plexus

scientific article published on March 17, 2010
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

scientific article
Ca(2+) and Na(+) dependence of 3-hydroxyglutarate-induced excitotoxicity in primary neuronal cultures from chick embryo telencephalons

scientific article published in August 2002
Phenylalanine reduces synaptic density in mixed cortical cultures from mice

scientific article published in April 2006
Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts

scientific article published on 5 November 2015
Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experience

scientific article published on 4 April 2012
Cross-sectional observational study of 208 patients with non-classical urea cycle disorders

scientific article published on 19 June 2013
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

scientific article published on March 2016
Incidence and short-term outcome of children with symptomatic presentation of organic acid and fatty acid oxidation disorders in Germany

scientific article
A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency

scientific article published in October 2002
3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals

scientific article
Neonatal mortality and outcome at the end of the first year of life in early onset urea cycle disorders—review and meta‐analysis of observational studies published over more than 35 years

scientific article published on December 3, 2015
Current concepts in organic acidurias: understanding intra- and extracerebral disease manifestation

scientific article published on 20 March 2013
Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options

scientific article published on 7 December 2015
Incidence, disease onset and short-term outcome in urea cycle disorders -cross-border surveillance in Germany, Austria and Switzerland

scientific article
Impact of age at onset and newborn screening on outcome in organic acidurias

scientific article published on 21 December 2015
Optimized spectrophotometric assay for the completely activated pyruvate dehydrogenase complex in fibroblasts

scientific article published on 18 November 2004
Quantitative clinical characteristics of 53 patients with MPS VII: a cross-sectional analysis

scientific article published on 6 April 2017
Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders

scientific article
Impact of clinical exomes in neurodevelopmental and neurometabolic disorders.

scientific article published on 30 June 2017
Transport and distribution of 3-hydroxyglutaric acid before and during induced encephalopathic crises in a mouse model of glutaric aciduria type 1.

scientific article published on 29 February 2008
Emerging role of autophagy in pediatric neurodegenerative and neurometabolic diseases

scientific article published on 28 October 2013
Increase in glutamate-induced neurotoxicity by activated astrocytes involves stimulation of protein kinase C.

scientific article published in August 2002
Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium.

scientific article published on 22 February 2015

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