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Late onset Krabbe disease due to the new GALC p.Ala543Pro mutation, with intriguingly high residual GALC activity in vitro. [electronic resource] by
- Krägeloh-Mann, Inge
- Harzer, Klaus
- Rostásy, Kevin
- Beck-Wödl, Stefanie
- Bornemann, Antje
- Böhringer, Judith
- Bevot, Andrea
- Beck, Verena
- Merkel, Gisela
- Pechan, Maria
Producer: 20171221
In:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society vol. 21
Availability: No items available.
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7.
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Phenotypic variation between siblings with Metachromatic Leukodystrophy. [electronic resource] 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
Producer: 20200330
In:
Orphanet journal of rare diseases vol. 14
Availability: No items available.
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Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells. [electronic resource] 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
Producer: 20180530
In:
Human mutation vol. 38
Availability: No items available.
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9.
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Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in Patients With Juvenile Metachromatic Leukodystrophy Compared With Nontransplanted Control Patients. [electronic resource] 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
Producer: 20170530
In:
JAMA neurology vol. 73
Availability: No items available.
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SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family. [electronic resource] by
- Roeben, Benjamin
- Schüle, Rebecca
- Ruf, Susanne
- Bender, Benjamin
- Alhaddad, Bader
- Benkert, Tanja
- Meitinger, Thomas
- Reich, Selina
- Böhringer, Judith
- Langhans, Claus-Dieter
- Vaz, Frédéric M
- Wortmann, Saskia B
- Marquardt, Thorsten
- Haack, Tobias B
- Krägeloh-Mann, Ingeborg
- Schöls, Ludger
- Synofzik, Matthis
Producer: 20180723
In:
Journal of medical genetics vol. 55
Availability: No items available.
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