Stefan Kolker

Heidelberg, BW, Germany

Last Updated: 09/26/2026

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Found 244 publications

Pathomechanism of Fever-Induced Liver Failure in NBAS Deficiency and Treatment Effect of NAC-Observations In Vitro and In Vivo.

Pathomechanism of Fever-Induced Liver Failure in NBAS Deficiency and Treatment Effect of NAC-Observations In Vitro and In Vivo.

Journal: Liver international : official journal of the International Association for the Study of the Liver

Published: March 17, 2026

Prevalence, Disease Onset and Clinical Outcome in Arginase 1 Deficiency: Cross-Border Surveillance in Germany, Austria, and Switzerland.

Prevalence, Disease Onset and Clinical Outcome in Arginase 1 Deficiency: Cross-Border Surveillance in Germany, Austria, and Switzerland.

Journal: Journal of inherited metabolic disease

Published: March 11, 2026

Impact of long-term nitrogen scavenger therapy on clinical outcome in individuals with urea cycle disorders.

Impact of long-term nitrogen scavenger therapy on clinical outcome in individuals with urea cycle disorders.

Journal: Scientific reports

Published: December 09, 2025

MR Neurography in Children and Adolescents: Multiparametric Assessment of Peripheral Nerve Involvement in Long-chain Fatty Acid Oxidation Disorders.

MR Neurography in Children and Adolescents: Multiparametric Assessment of Peripheral Nerve Involvement in Long-chain Fatty Acid Oxidation Disorders.

Journal: Investigative radiology

Published: November 18, 2025

Diagnostic delay in inherited metabolic diseases: Insights from the U-IMD registry.

Diagnostic delay in inherited metabolic diseases: Insights from the U-IMD registry.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 31, 2025

Aminoadipate-semialdehyde synthase, a potential target for substrate reduction therapy in glutaric aciduria type 1.

Aminoadipate-semialdehyde synthase, a potential target for substrate reduction therapy in glutaric aciduria type 1.

Journal: Scientific reports

Published: October 31, 2025

Peripheral Neuropathy Expands the Neurological Phenotype in Glutaric Aciduria Type 1.

Peripheral Neuropathy Expands the Neurological Phenotype in Glutaric Aciduria Type 1.

Journal: Journal of inherited metabolic disease

Published: October 13, 2025

Newborn Screening for Urea Cycle Disorders and Clinical Outcomes.

Newborn Screening for Urea Cycle Disorders and Clinical Outcomes.

Journal: Pediatrics

Published: August 31, 2025

A multi-dimensional framework for establishing and managing a genomic newborn screening program.

A multi-dimensional framework for establishing and managing a genomic newborn screening program.

Journal: European journal of human genetics : EJHG

Published: August 13, 2025

Transforming Growth Factor-β-Mediated Fibrotic Remodeling Drives Chronic Kidney Disease in Methylmalonic Aciduria and Propionic Aciduria-Identification of a New Therapeutic Target.

Transforming Growth Factor-β-Mediated Fibrotic Remodeling Drives Chronic Kidney Disease in Methylmalonic Aciduria and Propionic Aciduria-Identification of a New Therapeutic Target.

Journal: Journal of inherited metabolic disease

Published: August 06, 2025

A population-representative survey on attitudes toward genomic newborn screening in Germany.

A population-representative survey on attitudes toward genomic newborn screening in Germany.

Journal: Genetics in medicine open

Published: July 22, 2025

Propionic Acidemia: Gray Matter Disease Meets Subcortical Leukodystrophy.

Propionic Acidemia: Gray Matter Disease Meets Subcortical Leukodystrophy.

Journal: Journal of inherited metabolic disease

Published: July 17, 2025

Showing 1-12 of 244

Last Updated: 09/26/2026