Lara M. Marten
Robert Koch Str. 40
Goettingen, NI 37075, Germany
Goettingen, NI 37075, Germany
Last Updated: 09/26/2026
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Found 9 publications
Quantification of Specific Urinary Oligosaccharide Biomarkers for Diagnosis and Treatment Monitoring of Alpha-Mannosidosis.
Journal: Journal of inherited metabolic disease
Published: February 04, 2026
Mitochondrial dysfunction and impaired oxidative stress defense as potential trigger of cerebral X-linked adrenoleukodystrophy.
Journal: Free radical biology & medicine
Published: September 06, 2025
Long term follow-up in GAMT deficiency - Correlation of therapy regimen, biochemical and in vivo brain proton MR spectroscopy data.
Journal: Molecular genetics and metabolism reports
Published: November 04, 2023
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 05, 2023
Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 04, 2022
Hypomorphic variants of lactase-phlorizin hydrolase in congenital lactase deficiency are trafficking incompetent and functionally inactive.
Journal: Biochimica et biophysica acta. Molecular basis of disease
Published: October 29, 2021
Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency.
Journal: Molecular genetics and metabolism reports
Published: September 06, 2020
Heterozygotes Are a Potential New Entity among Homozygotes and Compound Heterozygotes in Congenital Sucrase-Isomaltase Deficiency.
Journal: Nutrients
Published: August 23, 2019
Showing 1-9 of 9
Last Updated: 09/26/2026