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Judith Böhringer Selected Research

Cerebroside-Sulfatase (Arylsulfatase A)

3/2022Identification of neurodegeneration indicators and disease progression in metachromatic leukodystrophy using quantitative NMR-based urinary metabolomics.
1/2022A Mutation-Agnostic Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy.
1/2022Hematopoietic Stem Cell Transplantation with Mesenchymal Stromal Cells in Children with Metachromatic Leukodystrophy.
3/2021Long-term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort.
8/2019Measurement of recombinant human arylsulfatase A and leukocyte sulfatase activities by analytical isotachophoresis.
11/2017Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells.

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Judith Böhringer Research Topics

Disease

9Metachromatic Leukodystrophy (Sulfatide Lipidosis)
03/2022 - 01/2016
3Lysosomal Storage Diseases (Lysosomal Storage Disease)
03/2022 - 11/2017
1Demyelinating Diseases (Demyelinating Disease)
03/2022
1Inborn Genetic Diseases (Disease, Hereditary)
01/2022
1Deglutition Disorders (Dysphagia)
12/2021
1Dysostoses
03/2021
1Multiple Sulfatase Deficiency Disease (Mucosulfatidosis)
03/2021
1Neurodegenerative Diseases (Neurodegenerative Disease)
03/2021
1Ichthyosis (Xeroderma)
03/2021
1Gangliosidoses (Gangliosidosis)
11/2020
1Disease Progression
09/2020
1Gaucher Disease (Gaucher's Disease)
01/2019
1Hereditary Spastic Paraplegia
01/2018
1Globoid Cell Leukodystrophy (Krabbe Disease)
05/2017
1GM2 Gangliosidoses (GM2 Gangliosidosis)
04/2017
1AB Variant Tay-Sachs Disease
04/2017
1Graft vs Host Disease (Graft-Versus-Host Disease)
11/2010

Drug/Important Bio-Agent (IBA)

6Cerebroside-Sulfatase (Arylsulfatase A)IBA
03/2022 - 11/2017
3Sulfoglycosphingolipids (Sulfatides)IBA
03/2022 - 11/2017
3EnzymesIBA
03/2021 - 01/2018
1N-formylglycineIBA
03/2021
1SulfatasesIBA
03/2021
1Glucosylceramidase (Glucocerebrosidase)IBA
01/2019
1PhosphatidylglycerolsIBA
01/2018
1LipidsIBA
01/2018
1Galactosylceramides (Galactocerebrosides)IBA
05/2017
1GalactosidasesIBA
05/2017
1Hexosaminidase BIBA
04/2017
1G(M2) Activator ProteinIBA
04/2017
1Hexosaminidase A (Hex A)IBA
04/2017
1Tumor Necrosis Factor-alpha (Tumor Necrosis Factor)IBA
11/2010
1CytokinesIBA
11/2010
1Interleukin-2 (IL2)IBA
11/2010
1Galectin 1 (LGALS1)IBA
11/2010

Therapy/Procedure

3Hematopoietic Stem Cell Transplantation
01/2022 - 01/2016
1Enteral Nutrition (Feeding, Tube)
12/2021
1Transplantation
09/2020