Klaus Harzer
Tuebingen, BW 72076, Germany
Last Updated: 09/26/2026
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Found 22 publications
Corrigendum to "Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? - Chances and challenges" Mol Genet Metab/Vol 137/Issue 3/2022/ 273-282.
Journal: Molecular genetics and metabolism
Published: February 05, 2023
Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? - Chances and challenges.
Journal: Molecular genetics and metabolism
Published: July 26, 2022
Extremely low arylsulfatase A enzyme activity does not necessarily cause symptoms: A long-term follow-up and review of the literature.
Journal: JIMD reports
Published: February 02, 2022
Angiokeratoma corporis diffusum with severe acroparesthesia, an endothelial abnormality, and inconspicuous genetic findings.
Journal: Journal of cutaneous pathology
Published: May 03, 2021
T2-Pseudonormalization and Microstructural Characterization in Advanced Stages of Late-infantile Metachromatic Leukodystrophy.
Journal: Clinical neuroradiology
Published: August 27, 2020
Long-term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort.
Journal: JIMD reports
Published: July 23, 2020
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.
Journal: Journal of inherited metabolic disease
Published: March 31, 2020
Comparative Analysis of Cerebral Magnetic Resonance Imaging Changes in Nontreated Infantile, Juvenile and Adult Patients with Niemann-Pick Disease Type C.
Journal: Neuropediatrics
Published: October 23, 2019
Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease - a new type of neuronal ceroid lipofuscinosis (CLN15)?
Journal: Acta neuropathologica communications
Published: December 03, 2018
Assay of β-glucosidase 2 (GBA2) activity using lithocholic acid β-3-O-glucoside substrate for cultured fibroblasts and glucosylceramide for brain tissue.
Journal: Biological chemistry
Published: February 27, 2018
Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells.
Journal: Human mutation
Published: February 17, 2017
Late onset Krabbe disease due to the new GALC p.Ala543Pro mutation, with intriguingly high residual GALC activity in vitro.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: October 21, 2016
Last Updated: 09/26/2026