S. Kölker

T. Bast, S. Kölker, G. Hoffmann, 2020, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Contribution of Reactive Oxygen Species to 3-Hydroxyglutarate Neurotoxicity in Primary Neuronal Cultures from Chick Embryo Telencephalons

B. Ahlemeyer, J. Krieglstein, S. Kölker, 2001, Pediatric Research.

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

R. Rodenburg, J. Smeitink, L. P. Van den Heuvel, 2006, The Biochemical journal.

Iron regulatory proteins secure mitochondrial iron sufficiency and function.

M. Hentze, B. Galy, H. Puy, 2010, Cell metabolism.

Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency

M. Baumgartner, D. di Bernardo, H. Debaix, 2020, Nature Communications.

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

J. Rothberg, F. Polleux, Tommy L. Lewis, 2016, Cell reports.

Emerging role of autophagy in pediatric neurodegenerative and neurometabolic diseases

S. Kölker, G. Hoffmann, D. Ebrahimi-Fakhari, 2014, Pediatric Research.

A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I

S. Kölker, G. Hoffmann, P. Burgard, 2015, Orphanet Journal of Rare Diseases.

Methylmalonic Acid, a Biochemical Hallmark of Methylmalonic Acidurias but No Inhibitor of Mitochondrial Respiratory Chain*

J. Smeitink, E. Mayatepek, S. Kölker, 2003, Journal of Biological Chemistry.

Impaired catecholaminergic signalling of B lymphocytes in patients with chronic rheumatic diseases

G. Burmester, S. Kölker, A. Krause, 2001, Annals of the rheumatic diseases.

Towards Achieving Equity and Innovation in Newborn Screening across Europe

M. van der Burg, T. Battelino, Y. le Cam, 2022, International journal of neonatal screening.

Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases

S. Kölker, G. Hoffmann, D. Ebrahimi-Fakhari, 2017, Journal of Inherited Metabolic Disease.

N. Brown, A. Hamosh, K. Flanigan, 2016, Brain : a journal of neurology.

Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism.

M. Baumgartner, M. Landolt, S. Kölker, 2017, JIMD reports.

Genotypic and phenotypic spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency.

S. Kölker, J. Okun, G. Hoffmann, 2022, Molecular genetics and metabolism.

Therapeutic modulation of cerebral L-lysine metabolism in a mouse model for glutaric aciduria type I.

S. Kölker, J. Okun, G. Hoffmann, 2011, Brain : a journal of neurology.

Molecular and biochemical alterations in tubular epithelial cells of patients with isolated methylmalonic aciduria.

H. Gröne, S. Kölker, J. Okun, 2015, Human molecular genetics.

Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency

I. Harting, O. Bodamer, J. Zschocke, 2005, Neurology.

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

A. Blaschek, M. Spraul, S. Kölker, 2021, Orphanet Journal of Rare Diseases.

Use of guidelines improves the neurological outcome in glutaric aciduria type I

I. Harting, J. Zschocke, S. Kölker, 2010, Annals of neurology.

Arachnoid Cysts in Glutaric Aciduria Type I (GA-I)

S. Kölker, N. Boy, 2018 .

Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium.

M. Baumgartner, S. Parker, A. Chakrapani, 2015, JIMD reports.

Newborn screening for methylmalonic acidurias—Optimization by statistical parameter combination

S. Kölker, G. Hoffmann, M. Lindner, 2008, Journal of Inherited Metabolic Disease.

Decline of Acute Encephalopathic Crises in Children with Glutaryl-CoA Dehydrogenase Deficiency Identified by Newborn Screening in Germany

J. Zschocke, S. Kölker, G. Hoffmann, 2007, Pediatric Research.

Neonatal screening for glutaryl-CoA dehydrogenase deficiency

C. Greenberg, E. Christensen, A. Schulze, 2004, Journal of Inherited Metabolic Disease.

Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment.

M. Baumgartner, D. Rizopoulos, Y. Chien, 2019, Molecular genetics and metabolism.

Maleic Acid – but Not Structurally Related Methylmalonic Acid – Interrupts Energy Metabolism by Impaired Calcium Homeostasis

S. Kölker, J. Okun, Bei-Tzu Wang, 2015, PloS one.

Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity

I. Harting, O. Bodamer, S. Kölker, 2017, Orphanet Journal of Rare Diseases.

Cerebral Organic Acid Disorders and Other Disorders of Lysine Catabolism

S. Kölker, G. Hoffmann, G. Hoffmann, 2012 .

Pathomechanisms of neurodegeneration in glutaryl‐CoA dehydrogenase deficiency

S. Kölker, J. Okun, G. Hoffmann, 2004, Annals of neurology.

Long-term effects of medical management on growth and weight in individuals with urea cycle disorders

M. Tuchman, M. Baumgartner, S. Waisbren, 2020, Scientific Reports.

Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea‐cycle disorders: On the basis of information from a European multicenter registry

S. Kölker, P. Burgard, A. Lund, 2019, Journal of inherited metabolic disease.

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

A. Ziegler, O. Witt, M. Gorenflo, 2019, Orphanet Journal of Rare Diseases.

Maternal Vitamin B12 Deficiency Detected by Newborn Screening—Evaluation of Causes and Characteristics

K. Weiss, S. Kölker, G. Hoffmann, 2022, Nutrients.

Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2-Associated Infantile Epilepsy

Manuela Pendziwiat, H. Muhle, R. Møller, 2022, Neurology: Genetics.

Deﬁning the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

Steven P. Miller, D. Segal, J. Volkmann, 2020 .

Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches.

H. Prokisch, T. Haack, S. Boesch, 2020, European journal of medical genetics.

Genetic cause and prevalence of hydroxyprolinemia

H. Prokisch, T. Haack, E. Mayatepek, 2016, Journal of Inherited Metabolic Disease.

Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts

Robert W. Taylor, T. Wieland, I. Harting, 2016, Journal of Inherited Metabolic Disease.

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

C. Schaaf, S. Kölker, G. Hoffmann, 2022, Medizinische Genetik.

Organic Acid Disorders

S. Kölker, 2014 .

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

I. Harting, S. Kölker, S. Garbade, 2019, Journal of inherited metabolic disease.

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

I. Harting, S. Kölker, S. Garbade, 2018, Journal of Inherited Metabolic Disease.

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

M. Baumgartner, B. Seifert, H. Blom, 2018, Journal of Inherited Metabolic Disease.

Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies

I. Harting, M. Parker, A. van Haeringen, 2021, European Journal of Human Genetics.

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

Robert W. Taylor, I. Harting, T. Meitinger, 2018, Genetics in Medicine.

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

M. Baumgartner, N. Ah Mew, S. Kölker, 2018, Journal of inherited metabolic disease.

Chiari-like displacement due to spontaneous intracranial hypotension in an adolescent: Successful treatment by epidural blood patch.

S. Kölker, M. Möhlenbruch, A. Seitz, 2017, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Potentiation of 3‐hydroxyglutarate neurotoxicity following induction of astrocytic iNOS in neonatal rat hippocampal cultures

E. Mayatepek, B. Ahlemeyer, J. Krieglstein, 2001, The European journal of neuroscience.

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

T. Giese, H. Prokisch, C. Klein, 2021, Journal of Clinical Immunology.

Influence of early identification and therapy on long‐term outcomes in early‐onset MTHFR deficiency

Gloria L. Porras-Hurtado, Y. Chien, C. Moreau, 2022, Journal of inherited metabolic disease.

Newborn Screening Programmes in Europe, Arguments and Efforts Regarding Harmonisation: Focus on Organic Acidurias.

J. Loeber, M. Cornel, S. Kölker, 2016, JIMD reports.

Analysis of the functional muscle–bone unit of the forearm in patients with phenylketonuria by peripheral quantitative computed tomography

B. Tönshoff, E. Schönau, S. Kölker, 2017, Journal of Inherited Metabolic Disease.

M. Baumgartner, M. Ribeiro, M. Landolt, 2020, Journal of inherited metabolic disease.

Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders

M. Baumgartner, À. García‐Cazorla, J. Zeman, 2016, Journal of Inherited Metabolic Disease.

Novel challenges in spinal muscular atrophy – How to screen and whom to treat?

A. Ziegler, S. Kölker, G. Hoffmann, 2018, Annals of clinical and translational neurology.

Issues with European guidelines for phenylketonuria.

M. Langeveld, C. Hollak, R. Lachmann, 2017, The lancet. Diabetes & endocrinology.

How longitudinal observational studies can guide screening strategy for rare diseases

S. Kölker, S. Garbade, N. Boy, 2022, Journal of inherited metabolic disease.

Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients

R. Russell, H. Prokisch, C. Klein, 2019, Genetics in Medicine.

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

S. Kölker, G. Hoffmann, S. Garbade, 2020, Genetics in Medicine.

High throughput newborn screening for aromatic ʟ‐amino‐acid decarboxylase deficiency by analysis of concentrations of 3‐O‐methyldopa from dried blood spots

S. Kölker, J. Okun, G. Hoffmann, 2019, Journal of inherited metabolic disease.

Phenylalanine Reduces Synaptic Density in Mixed Cortical Cultures from Mice

S. Kins, S. Kölker, J. Okun, 2006, Pediatric Research.

aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment

C. Schaaf, S. Uhrig, D. Hübschmann, 2022, bioRxiv.

Optimized spectrophotometric assay for the completely activated pyruvate dehydrogenase complex in fibroblasts.

J. Smeitink, L. P. Van den Heuvel, D. Rating, 2005, Clinical chemistry.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

M. Baumgartner, E. Rodrigues, C. Ortez, 2015, Journal of Inherited Metabolic Disease.

Cross-sectional observational study of 208 patients with non-classical urea cycle disorders

M. Baumgartner, M. Hochuli, R. Lachmann, 2013, Journal of Inherited Metabolic Disease.

Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres

M. Baumgartner, O. Bodamer, E. Morava, 2008, Journal of Inherited Metabolic Disease.

Identification of potential interferents of methylmalonic acid: a previously unrecognized pitfall in clinical diagnostics and newborn screening.

M. Godejohann, S. Kölker, J. Okun, 2022, Clinical biochemistry.

Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders

M. Baumgartner, R. Fingerhut, S. Kölker, 2017, PloS one.

Emergency treatment in glutaryl-CoA dehydrogenase deficiency

C. Greenberg, S. Kölker, G. Hoffmann, 2004, Journal of Inherited Metabolic Disease.

Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect*

T. Hornemann, M. Baumgartner, D. S. Froese, 2016, The Journal of Biological Chemistry.

Organic acidurias in adults: late complications and management

S. Kölker, F. Hörster, N. Boy, 2018, Journal of Inherited Metabolic Disease.

Low lysine diet in glutaric aciduria type I – effect on anthropometric and biochemical follow-up parameters

S. Kölker, G. Hoffmann, P. Burgard, 2013, Journal of Inherited Metabolic Disease.

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

D. Berg, M. Spraul, A. Pilotto, 2020, Orphanet Journal of Rare Diseases.

Cystathionine β‐synthase deficiency in the E‐HOD registry‐part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis

M. Baumgartner, H. Blom, S. Kölker, 2020, Journal of inherited metabolic disease.

Evaluation of Right Ventricular Function in Patients with Propionic Acidemia—A Cross-Sectional Study

M. Gorenflo, S. Kölker, S. Garbade, 2023, Children.

Impact of interventional and non‐interventional variables on anthropometric long‐term development in glutaric aciduria type 1: A national prospective multi‐centre study

M. Baumgartner, S. Grünert, T. Marquardt, 2020, Journal of inherited metabolic disease.

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

S. Grünert, S. Kölker, R. Posset, 2022, Journal of inherited metabolic disease.

Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut

M. Baumgartner, D. S. Froese, S. Kölker, 2020, Journal of inherited metabolic disease.

Detection of early cardiac disease manifestation in propionic acidemia - Results of a monocentric cross-sectional study.

M. Gorenflo, S. Kölker, G. Hoffmann, 2022, Molecular genetics and metabolism.

NMDA receptor activation and respiratory chain complex V inhibition contribute to neurodegeneration in d‐2‐hydroxyglutaric aciduria

V. Pawlak, E. Mayatepek, G. Köhr, 2002, The European journal of neuroscience.

A non-enzymatic function of 17β-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival

K. Kavanagh, R. Wanders, C. Bartram, 2010, EMBO molecular medicine.

Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1: a meta-analysis

S. Kölker, G. Hoffmann, S. Garbade, 2020, Genetics in medicine : official journal of the American College of Medical Genetics.

Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision

Johannes Zschocke, Thomas Opladen, I. Harting, 2017, Journal of Inherited Metabolic Disease.

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

M. Baumgartner, B. Seifert, H. Blom, 2019, Journal of inherited metabolic disease.

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

V. Pawlak, E. Mayatepek, G. Köhr, 2002 .

Increase in glutamate‐induced neurotoxicity by activated astrocytes involves stimulation of protein kinase C

B. Ahlemeyer, J. Krieglstein, S. Kölker, 2002, Journal of neurochemistry.

Emergency Treatment of Inherited Metabolic Diseases

W. Nyhan, S. Kölker, G. Hoffmann, 2017 .

3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals

M. Baumgartner, T. Suormala, W. Yue, 2012, Orphanet Journal of Rare Diseases.

Glutaryl-CoA dehydrogenase deficiency: region-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamen.

M. Pourfarzam, J. Zschocke, S. Kölker, 2003, Neuropediatrics.

Understanding cerebral L-lysine metabolism: the role of L-pipecolate metabolism in Gcdh-deficient mice as a model for glutaric aciduria type I

S. Kölker, J. Okun, R. Posset, 2015, Journal of Inherited Metabolic Disease.

Excitotoxicity and bioenergetics in glutaryl-CoA dehydrogenase deficiency

S. Kölker, J. Okun, G. Hoffmann, 2004, Journal of Inherited Metabolic Disease.

Glutaryl‐CoA Dehydrogenase

J. Zschocke, S. Kölker, G. Hoffmann, 2002 .

An international classification of inherited metabolic disorders (ICIMD)

Robert W. Taylor, A. Ballabio, E. Bertini, 2020, Journal of inherited metabolic disease.

Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experience.

C. Greenberg, A. Schlune, S. Kölker, 2012, Molecular genetics and metabolism.

Newborn Screening for Glutaric Aciduria Type I: Benefits and limitations

S. Kölker, J. Okun, P. Burgard, 2015 .

Severe Acute Subdural Hemorrhage in a Patient With Glutaric Aciduria Type I After Minor Head Trauma

S. Kölker, Matthias Zielonka, A. Seitz, 2015, Journal of child neurology.

Multifactorial modulation of susceptibility to l-lysine in an animal model of glutaric aciduria type I.

S. Kölker, J. Okun, P. Burgard, 2015, Biochimica et biophysica acta.

Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models—a cohort study in 180 patients

A. Ribes, C. Greenberg, S. Kölker, 2014, Journal of Inherited Metabolic Disease.

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

M. D. Del Bigio, C. Greenberg, S. Kölker, 2005, Brain : a journal of neurology.

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

S. Kölker, G. Hoffmann, M. Lindner, 2016, Journal of Inherited Metabolic Disease.

Incidence and short-term outcome of children with symptomatic presentation of organic acid and fatty acid oxidation disorders in Germany.

E. Mayatepek, R. von Kries, S. Kölker, 2002, Pediatrics.

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

A. Ziegler, S. Kölker, G. Hoffmann, 2020, Neuropediatrics.

QDPR homologues in Danio rerio regulate melanin synthesis, early gliogenesis, and glutamine homeostasis

M. Carl, S. Kölker, J. Okun, 2019, PloS one.

Pathogenesis of CNS involvement in disorders of amino and organic acid metabolism

S. Kölker, S. Sauer, M. Morath, 2008, Journal of Inherited Metabolic Disease.

A cross-sectional quantitative analysis of the natural history of Farber disease: an ultra-orphan condition with rheumatologic and neurological cardinal disease features

S. Kölker, G. Hoffmann, Matthias Zielonka, 2017, Genetics in Medicine.

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

C. Harding, S. Kölker, J. Okun, 2006, Journal of neurochemistry.

Bioenergetics in Glutaryl-Coenzyme A Dehydrogenase Deficiency

S. Kölker, J. Okun, G. Hoffmann, 2005, Journal of Biological Chemistry.

Elevated glutaric acid levels in Dhtkd1-/Gcdh- double knockout mice challenge our current understanding of lysine metabolism.

T. Meitinger, W. Wurst, H. Prokisch, 2017, Biochimica et biophysica acta. Molecular basis of disease.

Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network

C. Vrinten, G. Ceccarini, A. Federico, 2020, Orphanet Journal of Rare Diseases.

Late-onset multiple acyl-CoA dehydrogenase deficiency: A frequently missed diagnosis?

H. Waterham, S. Kölker, G. Hoffmann, 2006, Neurology.

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

M. Baumgartner, J. Zeman, S. Kölker, 2016, Journal of Inherited Metabolic Disease.

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

M. Baumgartner, J. Zeman, S. Kölker, 2016, Journal of Inherited Metabolic Disease.

The aetiology of neurological complications of organic acidaemias—A role for the blood–brain barrier

R. Surtees, J. Leonard, S. Kölker, 2006, Journal of Inherited Metabolic Disease.

Pharmacologic rescue of hyperammonemia-induced toxicity in zebrafish by inhibition of ornithine aminotransferase

M. Carl, S. Kölker, J. Okun, 2018, PloS one.

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

S. Kölker, R. Posset, G. Hoffmann, 2017, Orphanet Journal of Rare Diseases.

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

J. Zeman, M. Couce, A. Chakrapani, 2016, Journal of Inherited Metabolic Disease.

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

M. Baumgartner, R. Lachmann, E. Rodrigues, 2015, Journal of Inherited Metabolic Disease.

Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders.

A. Gropman, J. Probst, S. Kölker, 2020, Molecular genetics and metabolism.

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

J. Poeschl, S. Kölker, G. Hoffmann, 2019, Orphanet Journal of Rare Diseases.

Impairment of cognitive function in ornithine transcarbamylase deficiency is global rather than domain‐specific and is associated with disease onset, sex, maximum ammonium, and number of hyperammonemic events

S. Waisbren, R. McCarter, S. Kölker, 2019, Journal of inherited metabolic disease.

Variability of OTC deficiency in heterozygous carriers: Case report of a family

S. Kölker, G. Hoffmann, C. Staufner, 2014, Journal of Pediatric Biochemistry.

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

S. Kölker, 2018, Journal of Inherited Metabolic Disease.

ADP-dependent glucokinase as a novel onco-target for haematological malignancies

A. Tandon, S. Kölker, Jana Birkenhagen, 2020, Scientific Reports.

Impact of clinical exomes in neurodevelopmental and neurometabolic disorders.

Roland Eils, Stefan Wiemann, Ute Moog, 2017, Molecular genetics and metabolism.

Long-Term Outcome in Methylmalonic Acidurias Is Influenced by the Underlying Defect (mut0, mut−, cblA, cblB)

M. Baumgartner, T. Suormala, E. R. Baumgartner, 2007, Pediatric Research.

Methylmalonic acid — an endogenous toxin?

S. Kölker, J. G. Okun, 2005, Cellular and Molecular Life Sciences.

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.

Steven P. Miller, A. Ziegler, D. Segal, 2020, Brain : a journal of neurology.

Long-term Outcomes of Individuals With Metabolic Diseases Identified Through Newborn Screening

M. Leichsenring, S. Grünert, S. Kölker, 2020, Pediatrics.

Newborn screening and disease variants predict neurological outcome in isovaleric aciduria

S. Grünert, T. Marquardt, S. Kölker, 2021, Journal of inherited metabolic disease.

Unmet Needs of Parents of Children with Urea Cycle Disorders

B. Wild, M. Haun, S. Kölker, 2022, Children.

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

M. Baumgartner, S. Kölker, R. Posset, 2018, Journal of inherited metabolic disease.

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

Robert W. Taylor, I. Harting, T. Meitinger, 2018, Genetics in Medicine.

Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia

Angela C. M. Luyf, S. Lovell, S. Ferdinandusse, 2019, Brain : a journal of neurology.

Quantitative Acylcarnitine Profiling in Peripheral Blood Mononuclear Cells Using In Vitro Loading With Palmitic and 2-Oxoadipic Acids: Biochemical Confirmation of Fatty Acid Oxidation and Organic Acid Disorders

H. Schulze‐Bergkamen, E. Mayatepek, C. Greenberg, 2005, Pediatric Research.

Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients

R. Russell, H. Prokisch, C. Klein, 2019, Genetics in Medicine.

Pregnancy, delivery, and postpartum period in infantile liver failure syndrome type 2 due to variants in NBAS

S. Kölker, C. Staufner, Bianca Peters, 2023, JIMD reports.

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

J. Rosenfeld, J. Lupski, D. Horn, 2020, Genetics in Medicine.

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

Thomas Meitinger, Julien Gagneur, Holger Prokisch, 2015, American journal of human genetics.

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.

M. Carl, I. Harting, T. Meitinger, 2016, American journal of human genetics.

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.

Ronald J A Wanders, Martin Lindner, R. Wanders, 2002, Biochimica et biophysica acta.

3-methylcrotonyl-CoA carboxylase deficiency

S. Grünert, S. Kölker, J. Herwig, 2012 .

Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters

M. Baumgartner, O. Bodamer, E. Morava, 2009, Journal of Inherited Metabolic Disease.

Insights into energy balance dysregulation from a mouse model of methylmalonic aciduria

H. Fuchs, M. Baumgartner, G. Bommer, 2021, bioRxiv.

Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes

Robert W. Taylor, Vicente A. Yépez, J. Gagneur, 2021, medRxiv.

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

J. Rosenfeld, J. Lupski, D. Horn, 2020, Genetics in Medicine.

Early prediction of phenotypic severity in Citrullinemia Type 1

A. Gropman, S. Kölker, R. Posset, 2019, Annals of clinical and translational neurology.

Neurodegeneration in Methylmalonic Aciduria Involves Inhibition of Complex II and the Tricarboxylic Acid Cycle, and Synergistically Acting Excitotoxicity*

K. Unsicker, E. Mayatepek, S. Kölker, 2002, The Journal of Biological Chemistry.

Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.

Thomas Meitinger, Nathalie Boddaert, Robert Barouki, 2017, American journal of human genetics.

Renal outcome and plasma methylmalonic acid levels after isolated or combined liver or kidney transplantation in patients with methylmalonic acidemia: A multicenter analysis.

K. Wac, S. Testa, L. D’Antiga, 2022, Molecular genetics and metabolism.

Enzymatic and metabolic evidence for a region specific mitochondrial dysfunction in brains of murine succinic semialdehyde dehydrogenase deficiency (Aldh5a1 −/− mice)

K. Gibson, S. Kölker, J. Okun, 2007, Neurochemistry International.

Chronic treatment with glutaric acid induces partial tolerance to excitotoxicity in neuronal cultures from chick embryo telencephalons

M. Wajner, E. Mayatepek, B. Ahlemeyer, 2002, Journal of neuroscience research.

Ca2+ and Na+ Dependence of 3-Hydroxyglutarate-Induced Excitotoxicity in Primary Neuronal Cultures from Chick Embryo Telencephalons

V. Pawlak, E. Mayatepek, G. Köhr, 2002, Pediatric Research.

3‐Ureidopropionate contributes to the neuropathology of 3‐ureidopropionase deficiency and severe propionic aciduria: A hypothesis

E. Mayatepek, B. Ahlemeyer, J. Krieglstein, 2001, Journal of neuroscience research.

Health Outcomes of Infants With Vitamin B12 Deficiency Identified by Newborn Screening and Early Treated.

S. Grünert, S. Kölker, J. Okun, 2021, The Journal of pediatrics.

Defects in amino acid catabolism and the urea cycle.

S. Kölker, G. Hoffmann, G. Hoffmann, 2013, Handbook of clinical neurology.

Cytosine arabinofuranoside-induced activation of astrocytes increases the susceptibility of neurons to glutamate due to the release of soluble factors

B. Ahlemeyer, J. Krieglstein, S. Kölker, 2003, Neurochemistry International.

I. Harting, S. Kölker, S. Garbade, 2018, Neuropediatrics.

MRI and 1H-MRS in adenosine kinase deficiency

I. Harting, H. Blom, S. Kölker, 2016, Neuroradiology.

Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options

H. Blom, S. Grünert, K. Kahrizi, 2016, Journal of Inherited Metabolic Disease.

Work-Up of the Patient with Acute Neurological or Psychiatric Manifestations

W. Nyhan, S. Kölker, G. Hoffmann, 2017 .

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

S. Kölker, R. Santer, P. Burgard, 2022, Journal of inherited metabolic disease.

Newborn screening: A disease‐changing intervention for glutaric aciduria type 1

M. Baumgartner, S. Grünert, T. Marquardt, 2018, Annals of neurology.

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

M. Baumgartner, S. Grünert, S. Kölker, 2021, Journal of inherited metabolic disease.

Rare Disease Registries Are Key to Evidence-Based Personalized Medicine: Highlighting the European Experience

S. Kölker, T. Opladen, F. Gleich, 2022, Frontiers in Endocrinology.

Looking beyond the basal ganglia: The spectrum of MRI changes in methylmalonic acidaemia

I. Harting, S. Kölker, M. Lindner, 2008, Journal of Inherited Metabolic Disease.

Methylmalonic acid induces excitotoxic neuronal damage in vitro

J. Krieglstein, S. Kölker, G. Hoffmann, 2000, Journal of Inherited Metabolic Disease.

Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.

I. Harting, J. Zschocke, S. Kölker, 2009, Brain : a journal of neurology.

Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometry

P. Chakraborty, O. Al-Dirbashi, L. Fisher, 2011, Journal of Inherited Metabolic Disease.

Glutaric aciduria type I: A translational approach to an enigmatic disease

S. Kölker, J. Okun, S. Sauer, 2011 .

Neonatal screening for glutaric aciduria type I: Strategies to proceed

S. Kölker, G. Hoffmann, M. Lindner, 2006, Journal of Inherited Metabolic Disease.

Transport and distribution of 3-hydroxyglutaric acid before and during induced encephalopathic crises in a mouse model of glutaric aciduria type 1.

M. Glatzel, B. Keyser, Z. Lukacs, 2008, Biochimica et biophysica acta.

Intrastriatal administration of 3-hydroxyglutaric acid induces convulsions and striatal lesions in rats

M. Wajner, E. Mayatepek, B. Ahlemeyer, 2001, Brain Research.

Cerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuria

K. Scheffler, D. Berg, C. Zipser, 2019, Journal of inherited metabolic disease.

Glutaryl-Coenzyme A dehydrogenase deficiency

J. Saudubray, S. Kölker, 2003 .

1H-MRS in glutaric aciduria type 1: impact of biochemical phenotype and age on the cerebral accumulation of neurotoxic metabolites

I. Harting, P. Pouwels, M. Bendszus, 2015, Journal of Inherited Metabolic Disease.

Newborn screening by tandem mass spectrometry for glutaric aciduria type 1: a cost-effectiveness analysis

S. Listl, S. Kölker, G. Hoffmann, 2013, Orphanet Journal of Rare Diseases.

Adult onset glutaric aciduria type I presenting with a leukoencephalopathy

G. Hoffmann, S. Kölker, 2003, Neurology.

Maintenance treatment of glutaryl-CoA dehydrogenase deficiency

K. Strauss, C. Greenberg, S. Kölker, 2004, Journal of Inherited Metabolic Disease.

High urgency liver transplantation in ornithine transcarbamylase deficiency presenting with acute liver failure

J. Weitz, G. Engelmann, C. Flechtenmacher, 2009, Pediatric transplantation.

On the Creation, Utility and Sustaining of Rare Diseases Research Networks: Lessons learned from the Urea Cycle Disorders Consortium, the Japanese Urea Cycle Disorders Consortium and the European Registry and Network for Intoxication Type Metabolic Diseases.

S. Kölker, M. Summar, F. Endo, 2014, Molecular genetics and metabolism.

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

J. Weitz, M. Yudkoff, A. Schlune, 2018, Journal of Inherited Metabolic Disease.

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

T. Bast, C. Schaaf, T. Haack, 2021, Human mutation.

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement

Robert W. Taylor, R. Durbin, T. Wieland, 2015, Annals of clinical and translational neurology.

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

M. Baumgartner, S. Kölker, J. Schmiesing, 2020, Journal of inherited metabolic disease.

Workup of the Patient with Metabolic Acidosis and Massive Ketosis

W. Nyhan, S. Kölker, G. Hoffmann, 2017 .

Recurrent Stroke-Like Episodes in FBXL4-Associated Early-Onset Mitochondrial Encephalomyopathy.

S. Kölker, G. Hoffmann, A. Seitz, 2015, Pediatric neurology.

Cardiac phenotype in propionic acidemia - Results of an observational monocentric study.

M. Gorenflo, S. Kölker, G. Hoffmann, 2020, Molecular genetics and metabolism.

Impaired Mitochondrial Dynamics And Mitophagy In Neuronal Models Of Tuberous Sclerosis Complex.

J. Rothberg, F. Polleux, Tommy L. Lewis, 2016, Cell reports.

Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders

G. Rubboli, R. Møller, T. Bast, 2021, International journal of molecular sciences.

Maturation-Dependent Neurotoxicity of 3-Hydroxyglutaric and Glutaric Acids In Vitro : A New Pathophysiologic Approach to Glutaryl-CoA Dehydrogenase Deficiency

B. Ahlemeyer, J. Krieglstein, S. Kölker, 2000, Pediatric Research.

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

M. Baumgartner, S. Grünert, S. Kölker, 2021, Scientific Reports.

Quantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy – a systematic cross-sectional analysis of 160 published cases

S. Kölker, G. Hoffmann, S. Garbade, 2021, Autophagy.

Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria

C. Thiel, K. Tsiakas, S. Kölker, 2021, Journal of inherited metabolic disease.

Erratum to: Long-term exposure of human proximal tubule cells to hydroxycobalamin[c-lactam] as a possible model to study renal disease in methylmalonic acidurias

S. Kölker, S. Sauer, S. Opp, 2009, Journal of Inherited Metabolic Disease.

Long-term exposure of human proximal tubule cells to hydroxycobalamin[c-lactam] as a possible model to study renal disease in methylmalonic acidurias

S. Kölker, S. Sauer, S. Opp, 2009, Journal of Inherited Metabolic Disease.

Reversible end-stage renal disease in an adolescent patient with methylmalonic aciduria

S. Kölker, O. Mehls, F. Trefz, 2004, Pediatric Nephrology.

Usefulness of biochemical parameters in decision-making on the start of emergency treatment in patients with propionic acidemia

S. Kölker, P. Burgard, Gisela Haege, 2014, Journal of Inherited Metabolic Disease.

Metabolic decompensation in methylmalonic aciduria: which biochemical parameters are discriminative?

S. Kölker, P. Burgard, F. Hörster, 2012, Journal of Inherited Metabolic Disease.

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.

M. Kamiński, S. Kölker, J. Okun, 2010, Biochimica et biophysica acta.

3-Hydroxyglutaric and glutaric acids are neurotoxic through NMDA receptors in vitro

B. Ahlemeyer, J. Krieglstein, S. Kölker, 1999, Journal of Inherited Metabolic Disease.

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

M. Baumgartner, R. Lachmann, E. Rodrigues, 2015, Journal of Inherited Metabolic Disease.

Acute encephalopathy despite early therapy in a patient with homozygosity for E365K in the glutaryl-coenzyme A dehydrogenase gene.

V. Ramaekers, J. Zschocke, S. Kölker, 2001, The Journal of pediatrics.

Challenges for basic research in glutaryl-CoA dehydrogenase deficiency

K. Strauss, S. Kölker, J. Okun, 2004, Journal of Inherited Metabolic Disease.

Modulation of glutamatergic and GABAergic neurotransmission in glutaryl-CoA dehydrogenase deficiency

D. Souza, M. Wajner, S. Kölker, 2004, Journal of Inherited Metabolic Disease.

Animal models for glutaryl-CoA dehydrogenase deficiency

M. Wajner, S. Kölker, C. Mühlhausen, 2004, Journal of Inherited Metabolic Disease.

Genomic newborn screening: Proposal of a two‐stage approach

C. Schaaf, S. Kölker, G. Hoffmann, 2021, Journal of inherited metabolic disease.

Machine Learning Methods Improve Specificity in Newborn Screening for Isovaleric Aciduria

S. Kölker, S. Garbade, P. Feyh, 2023, Metabolites.

Impact of the SARS‐CoV‐2 pandemic on the health of individuals with intoxication‐type metabolic diseases—Data from the E‐IMD consortium

M. Baumgartner, Y. Chien, S. Grünert, 2022, Journal of inherited metabolic disease.

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

S. Kölker, G. Hoffmann, Matthias Zielonka, 2019, Genetics in Medicine.

Renal involvement in a patient with cobalamin A type (cblA) methylmalonic aciduria: a 42-year follow-up.

M. Baumgartner, E. R. Baumgartner, O. Devuyst, 2013, Molecular genetics and metabolism.

Gamma-Hydroxybutyric Acid Sedation in Neonates and Children Undergoing MR Imaging

O. Linderkamp, S. Kölker, M. Bettendorf, 2007, Klinische Padiatrie.

How guideline development has informed clinical research for organic acidurias (et vice versa)

M. Baumgartner, S. Kölker, F. Hörster, 2023, Journal of inherited metabolic disease.

Organic acidurias: Ingredients for precision medicine

M. Baumgartner, S. Kölker, 2023, Journal of inherited metabolic disease.

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

M. Baumgartner, I. Harting, B. Plecko, 2022, Journal of inherited metabolic disease.

From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria

A. Gropman, S. Kölker, J. Okun, 2020, Human mutation.

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

F. Schaefer, S. Kölker, D. Martinelli, 2020, Orphanet Journal of Rare Diseases.

Postauthorization safety study of betaine anhydrous

M. Baumgartner, H. Blom, F. Mochel, 2022, Journal of inherited metabolic disease.

Phenotypic prediction in glutaric aciduria type 1 combining in silico and in vitro modeling with real‐world data

S. Kölker, Matthias Zielonka, N. Boy, 2023, Journal of inherited metabolic disease.

Generation of an iPSC line from a patient with infantile liver failure syndrome 2 due to mutations in NBAS: DHMCi004-A.

S. Kölker, G. Hoffmann, G. Göhring, 2019, Stem cell research.

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

S. Kölker, G. Hoffmann, Matthias Zielonka, 2018, Genetics in Medicine.

Ultra‐orphan lysosomal storage diseases: A cross‐sectional quantitative analysis of the natural history of alpha‐mannosidosis

S. Kölker, G. Hoffmann, Matthias Zielonka, 2019, Journal of inherited metabolic disease.

Newborn Screening in a Pandemic—Lessons Learned

T. Battelino, J. Bonham, U. Groselj, 2023, International journal of neonatal screening.

Quantitative clinical characteristics of 53 patients with MPS VII: a cross-sectional analysis

S. Kölker, G. Hoffmann, Matthias Zielonka, 2017, Genetics in Medicine.

Evaluation of trigger factors of acute encephalopathy in glutaric aciduria type I: Fever and tumour necrosis factor-α

J. Krieglstein, S. Kölker, G. Hoffmann, 2000, Journal of Inherited Metabolic Disease.

Urinary NMR Profiling in Pediatric Acute Kidney Injury—A Pilot Study

B. Tönshoff, B. Luy, S. Kölker, 2020, International journal of molecular sciences.

Exploring genotype–phenotype correlations in glutaric aciduria type 1

C. V. van Karnebeek, A. Ribes, S. Kölker, 2023, Journal of inherited metabolic disease.

Impairment of astrocytic glutaminolysis in glutaric aciduria type I

S. Kölker, J. Okun, S. Sauer, 2018, Journal of Inherited Metabolic Disease.

Cerebral Organic Acidurias

S. Kölker, 2022, Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases.

Lysine intake and neurotoxicity in glutaric aciduria type I: towards a rationale for therapy?

S. Kölker, J. Okun, G. Hoffmann, 2006, Brain : a journal of neurology.

Bioenergetic dysfunction in a zebrafish model of acute hyperammonemic decompensation

M. Carl, J. Probst, S. Kölker, 2019, Experimental Neurology.

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

P. Broser, Birgit Stark, H. Muhle, 2020, Biomedicines.

Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria

Elena Schnabel, S. Kölker, J. Okun, 2023, Nutrients.

Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency

M. Baumgartner, D. di Bernardo, H. Debaix, 2020, Nature Communications.

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

S. Kölker, O. Gross, L. Hannibal, 2023, Scientific reports.

Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency

A. Gropman, S. Kölker, J. Okun, 2022, Annals of clinical and translational neurology.

Opportunities and challenges in machine learning‐based newborn screening—A systematic literature review

S. Kölker, S. Garbade, Saskia Haupt, 2022, JIMD reports.

Quantitative natural history characterization in a cohort of 142 published cases of patients with galactosialidosis—A cross‐sectional study

S. Kölker, G. Hoffmann, S. Garbade, 2019, Journal of inherited metabolic disease.

Perioperative management of a child with glutaric aciduria type I undergoing cardiac surgery.

C. Sebening, S. Kölker, C. Bopp, 2013, A & A case reports.

Cerebral organic acid disorders induce neuronal damage via excitotoxic organic acids in vitro

B. Ahlemeyer, J. Krieglstein, S. Kölker, 2000, Amino Acids.

Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.

I. Harting, J. Zschocke, S. Kölker, 2009, Brain : a journal of neurology.

Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision

I. Harting, C. Greenberg, J. Zschocke, 2017, Journal of Inherited Metabolic Disease.

Organic Acid Disorders

S. Kölker, 2014 .

Neuroradiological findings in glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency)

I. Harting, S. Kölker, E. Neumaier-Probst, 2004, Journal of Inherited Metabolic Disease.

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

S. Kölker, G. Hoffmann, Matthias Zielonka, 2019, Genetics in Medicine.

Work-Up of the Patient with Hypoglycemia

W. Nyhan, S. Kölker, G. Hoffmann, 2017 .

Approach to the Child Suspected of Having a Disorder of Fatty Acid Oxidation

W. Nyhan, S. Kölker, G. Hoffmann, 2017 .

Deorphanization of GPR109B as a Receptor for the β-Oxidation Intermediate 3-OH-octanoic Acid and Its Role in the Regulation of Lipolysis*

S. Tunaru, S. Offermanns, S. Kölker, 2009, The Journal of Biological Chemistry.

Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect*

T. Hornemann, D. S. Froese, O. Devuyst, 2016, The Journal of Biological Chemistry.

Fat embolism syndrome in Duchenne muscular dystrophy: Report on a novel case and systematic literature review.

S. Kölker, J. Westhoff, Sabine Specht, 2023, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

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

S. Grünert, U. Steuerwald, S. Kölker, 2023, Journal of inherited metabolic disease.

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

S. Kölker, M. Lindner, R. Santer, 2023, Journal of inherited metabolic disease.

Genetic landscape of pediatric acute liver failure of indeterminate origin

T. Meitinger, H. Prokisch, C. Sokollik, 2023, Hepatology.