Stefan Kölker
Ruprecht-Karls-Universität Heidelberg
H-index: 62
Europe-Germany
Top articles of Stefan Kölker
Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias
Journal of Inherited Metabolic Disease
2024/4/2
Martin Lindner
H-Index: 5
Stefan Kölker
H-Index: 35
Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders
Genetics in medicine
2024/4/1
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease
Molecular Genetics and Metabolism
2024/3/1
Matias Wagner
H-Index: 12
Stefan Kölker
H-Index: 35
Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders
Molecular Genetics and Metabolism
2024/3/1
Sandesh Cs Nagamani
H-Index: 31
Stefan Kölker
H-Index: 35
Neurological outcome in long‐chain hydroxy fatty acid oxidation disorders
Annals of Clinical and Translational Neurology
2024/1/23
ASS1 deficiency is associated with impaired neuronal differentiation in zebrafish larvae
Molecular Genetics and Metabolism
2024/1/1
Stefan Kölker
H-Index: 35
Genetic landscape of pediatric acute liver failure of indeterminate origin
Hepatology
2024/5/1
Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial
JAMA pediatrics
2024/4/8
Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1
Neurology
2023/8/29
Combined newborn screening allows comprehensive identification also of attenuated phenotypes for methylmalonic acidurias and homocystinuria
Nutrients
2023/7/28
Stefan Kölker
H-Index: 35
Residual enzyme activity in metabolic disease
2023/6/15
The impact of metabolic stressors on mitochondrial homeostasis in a renal epithelial cell model of methylmalonic aciduria
Scientific Reports
2023/5/11
Stefan Kölker
H-Index: 35
Olaf Groß
H-Index: 31
Phenotypic prediction in glutaric aciduria type 1 combining in silico and in vitro modeling with real‐world data
Journal of Inherited Metabolic Disease
2023/5
Stefan Kölker
H-Index: 35
Organic acidurias: Ingredients for precision medicine
2023/5
Stefan Kölker
H-Index: 35
Exploring genotype–phenotype correlations in glutaric aciduria type 1
Journal of Inherited Metabolic Disease
2023/5
Stefan Kölker
H-Index: 35
Alejandro Garanto
H-Index: 17
Pregnancy, delivery, and postpartum period in infantile liver failure syndrome type 2 due to variants in NBAS
JIMD reports
2023/5
Stefan Kölker
H-Index: 35
How guideline development has informed clinical research for organic acidurias (et vice versa)
Journal of Inherited Metabolic Disease
2023/5
Stefan Kölker
H-Index: 35
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision
Journal of inherited metabolic disease
2023/5
Fat embolism syndrome in Duchenne muscular dystrophy report on a novel case and systematic literature review
2023/12/6
Newborn Screening in a Pandemic—Lessons Learned
2023/4/11
Stefan Kölker
H-Index: 35
Tadej Battelino
H-Index: 37
Co-Authors
