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Early clinical course after hematopoietic stem cell transplantation in children with juvenile metachromatic leukodystrophy.
Published in:
Molecular & Cellular Pediatrics, 2020, v. 7, n. 1, p. N.PAG, doi. 10.1186/s40348-020-00103-7
By:
- Beschle, Judith;
- Döring, Michaela;
- Kehrer, Christiane;
- Raabe, Christa;
- Bayha, Ute;
- Strölin, Manuel;
- Böhringer, Judith;
- Bevot, Andrea;
- Kaiser, Nadja;
- Bender, Benjamin;
- Grimm, Alexander;
- Lang, Peter;
- Müller, Ingo;
- Krägeloh-Mann, Ingeborg;
- Groeschel, Samuel
Publication type:
Article
Phenotypic variation between siblings with Metachromatic Leukodystrophy.
Published in:
2019
By:
- Elgün, Saskia;
- Waibel, Jakob;
- Kehrer, Christiane;
- van Rappard, Diane;
- Böhringer, Judith;
- Beck-Wödl, Stefanie;
- Just, Jennifer;
- Schöls, Ludger;
- Wolf, Nicole;
- Krägeloh-Mann, Ingeborg;
- Groeschel, Samuel
Publication type:
journal article
Identification of neurodegeneration indicators and disease progression in metachromatic leukodystrophy using quantitative NMR‐based urinary metabolomics.
Published in:
Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 2, p. 168, doi. 10.1002/jmd2.12273
By:
- Laugwitz, Lucia;
- Zizmare, Laimdota;
- Santhanakumaran, Vidiyaah;
- Cannet, Claire;
- Böhringer, Judith;
- Okun, Jürgen G.;
- Spraul, Manfred;
- Krägeloh‐Mann, Ingeborg;
- Groeschel, Samuel;
- Trautwein, Christoph
Publication type:
Article
Long‐term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort.
Published in:
Journal of Inherited Metabolic Disease Reports, 2021, v. 58, n. 1, p. 80, doi. 10.1002/jmd2.12189
By:
- Beck‐Wödl, Stefanie;
- Kehrer, Christiane;
- Harzer, Klaus;
- Haack, Tobias B.;
- Bürger, Friederike;
- Haas, Dorothea;
- Rieß, Angelika;
- Groeschel, Samuel;
- Krägeloh‐Mann, Ingeborg;
- Böhringer, Judith
Publication type:
Article
Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in Patients With Juvenile Metachromatic Leukodystrophy Compared With Nontransplanted Control Patients.
Published in:
JAMA Neurology, 2016, v. 73, n. 9, p. 1133, doi. 10.1001/jamaneurol.2016.2067
By:
- Groeschel, Samuel;
- Kühl, Jörn-Sven;
- Bley, Annette E.;
- Kehrer, Christiane;
- Weschke, Bernhard;
- Döring, Michaela;
- Böhringer, Judith;
- Schrum, Johanna;
- Santer, René;
- Kohlschütter, Alfried;
- Krägeloh-Mann, Ingeborg;
- Müller, Ingo
Publication type:
Article
Chitotriosidase is a biomarker for adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia.
Published in:
Annals of Clinical & Translational Neurology, 2022, v. 9, n. 11, p. 1807, doi. 10.1002/acn3.51656
By:
- Hayer, Stefanie N.;
- Santhanakumaran, Vidiyaah;
- Böhringer, Judith;
- Schöls, Ludger
Publication type:
Article
The Mutation Matters: CSF Profiles of GCase, Sphingolipids, α‐Synuclein in PD<sub>GBA</sub>.
Published in:
Movement Disorders, 2021, v. 36, n. 5, p. 1216, doi. 10.1002/mds.28472
By:
- Lerche, Stefanie;
- Schulte, Claudia;
- Wurster, Isabel;
- Machetanz, Gerrit;
- Roeben, Benjamin;
- Zimmermann, Milan;
- Deuschle, Christian;
- Hauser, Ann‐Kathrin;
- Böhringer, Judith;
- Krägeloh‐Mann, Ingeborg;
- Waniek, Katharina;
- Lachmann, Ingolf;
- Petterson, Xuan‐Mai T.;
- Chiang, Ruby;
- Park, Hyejung;
- Wang, Bing;
- Liepelt‐Scarfone, Inga;
- Maetzler, Walter;
- Galasko, Douglas;
- Scherzer, Clemens R.
Publication type:
Article
Optimization of Enzyme Essays to Enhance Reliability of Activity Measurements in Leukocyte Lysates for the Diagnosis of Metachromatic Leukodystrophy and Gangliosidoses.
Published in:
Cells (2073-4409), 2020, v. 9, n. 12, p. 2553, doi. 10.3390/cells9122553
By:
- Strobel, Sebastian;
- Hesse, Naomi;
- Santhanakumaran, Vidiyaah;
- Groeschel, Samuel;
- Bruchelt, Gernot;
- Krägeloh-Mann, Ingeborg;
- Böhringer, Judith
Publication type:
Article
Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells.
Published in:
Human Mutation, 2017, v. 38, n. 11, p. 1511, doi. 10.1002/humu.23306
By:
- Böhringer, Judith;
- Santer, René;
- Schumacher, Neele;
- Gieseke, Friederike;
- Cornils, Kerstin;
- Pechan, Maria;
- Kustermann‐Kuhn, Birgit;
- Handgretinger, Rupert;
- Schöls, Ludger;
- Harzer, Klaus;
- Krägeloh‐Mann, Ingeborg;
- Müller, Ingo
Publication type:
Article

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