Anke Schumann

Adolescent Medicine And Neonatology Breisacher Str. 62 79106 Freiburg Germany
Freiburg, BW 79106, Germany

Last Updated: 09/26/2026

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Found 41 publications

The kidney in genetic metabolic disorders.

The kidney in genetic metabolic disorders.

Journal: Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V

Published: February 19, 2026

Quantification of Specific Urinary Oligosaccharide Biomarkers for Diagnosis and Treatment Monitoring of Alpha-Mannosidosis.

Quantification of Specific Urinary Oligosaccharide Biomarkers for Diagnosis and Treatment Monitoring of Alpha-Mannosidosis.

Journal: Journal of inherited metabolic disease

Published: February 04, 2026

Newborn Screening for Urea Cycle Disorders and Clinical Outcomes.

Newborn Screening for Urea Cycle Disorders and Clinical Outcomes.

Journal: Pediatrics

Published: August 31, 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

Linking Brain Morphometry to Psychometric Measures and Energy-Metabolic Biomarkers in Adults With Autism Spectrum Disorder.

Linking Brain Morphometry to Psychometric Measures and Energy-Metabolic Biomarkers in Adults With Autism Spectrum Disorder.

Journal: Autism research : official journal of the International Society for Autism Research

Published: August 02, 2025

Pitfalls in the diagnosis of carnitine palmitoyltransferase 1 deficiency.

Pitfalls in the diagnosis of carnitine palmitoyltransferase 1 deficiency.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: July 10, 2025

Kidney involvement in glycogen storage disease type I: Current knowledge and key challenges.

Kidney involvement in glycogen storage disease type I: Current knowledge and key challenges.

Journal: Molecular genetics and metabolism

Published: January 15, 2025

Renal phenotyping in a hypomorphic murine model of propionic aciduria reveals common pathomechanisms in organic acidurias.

Renal phenotyping in a hypomorphic murine model of propionic aciduria reveals common pathomechanisms in organic acidurias.

Journal: Scientific reports

Published: March 07, 2024

Clinical and biochemical footprints of inherited metabolic diseases. XIV. Metabolic kidney diseases.

Clinical and biochemical footprints of inherited metabolic diseases. XIV. Metabolic kidney diseases.

Journal: Molecular genetics and metabolism

Published: July 21, 2023

Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis.

Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis.

Journal: Journal of neurology, neurosurgery, and psychiatry

Published: July 07, 2023

Increased cerebral lactate levels in adults with autism spectrum disorders compared to non-autistic controls: a magnetic resonance spectroscopy study.

Increased cerebral lactate levels in adults with autism spectrum disorders compared to non-autistic controls: a magnetic resonance spectroscopy study.

Journal: Molecular autism

Published: June 28, 2023

Altered markers of mitochondrial function in adults with autism spectrum disorder.

Altered markers of mitochondrial function in adults with autism spectrum disorder.

Journal: Autism research : official journal of the International Society for Autism Research

Published: June 26, 2023

Showing 1-12 of 41

Last Updated: 09/26/2026