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International Journal of Neonatal Screening|November 24, 2025
Newborn Screening for Metachromatic Leukodystrophy: A Systematic Literature ReviewLucia Laugwitz, Andrew Shenker, Erica F Sluys, et al.
Neuroimage. Clinical|December 23, 2022
MR-spectroscopy in metachromatic leukodystrophy: A model free approach and clinical correlationJoana Feldmann, Pascal Martin, Benjamin Bender, et al.
Antioxidants (Basel, Switzerland)|March 29, 2023
Neuroimaging in Primary Coenzyme-Q<sub>10</sub>-Deficiency DisordersJuliane Münch, Jannik Prasuhn, Lucia Laugwitz, et al.
JIMD Reports|March 14, 2022
Identification of neurodegeneration indicators and disease progression in metachromatic leukodystrophy using quantitative NMR-based urinary metabolomicsLucia Laugwitz, Laimdota Zizmare, Vidiyaah Santhanakumaran, et al.
Annals of Clinical and Translational Neurology|June 5, 2024
Late-onset Krabbe disease presenting as spastic paraplegia - implications of GCase and CTSB/DRebecca Mächtel, Jan-Philipp Dobert, Ute Hehr, et al.
Disease Models & Mechanisms|July 22, 2024
Human organoid model of pontocerebellar hypoplasia 2a recapitulates brain region-specific size differencesTheresa Kagermeier, Stefan Hauser, Kseniia Sarieva, et al.
JIMD Reports|July 13, 2022
Extremely low arylsulfatase A enzyme activity does not necessarily cause symptoms: A long-term follow-up and review of the literatureLucia Laugwitz, Vidiyaah Santhanakumaran, Mareike Spieker, et al.
Molecular Genetics and Metabolism|October 14, 2022
Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? - Chances and challengesVidiyaah Santhanakumaran, Samuel Groeschel, Klaus Harzer, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|May 1, 2025
Brain morphometry and psychomotor development in children with PCH2APablo Pretzel, Antonia Herrmann, Alice Kuhn, et al.
European Journal of Medical Genetics|May 4, 2020
Pontocerebellar hypoplasia type 11: Does the genetic defect determine timing of cerebellar pathology?Lucia Laugwitz, Rebecca Buchert, Samuel Groeschel, et al.
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