E-LIB Suche - Ergebnisse für: í Dali, Christine

1

Efficacy and safety of arimoclomol in Niemann‐Pick disease ..:

Mengel, Eugen ; Patterson, Marc C. ; Da Riol, Rosalia M....
Journal of Inherited Metabolic Disease. 44 (2021) 6 - p. 1463-1480 , 2021

Link: https://doi.org/10.1002/..

2

Persistent effect of arimoclomol in patients with Nuemann-P..:

Patterson, Marc C. ; Mengel, Eugen ; Da Riol, Rosalia M....
Molecular Genetics and Metabolism. 132 (2021) 2 - p. S83 , 2021

Link: https://doi.org/10.1016/..

3

Impacts and Burden of Niemann pick Type-C: a patient and ca..:

Mengel, Eugen ; Patterson, Marc C. ; Chladek, Michael...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

Link: https://doi.org/10.1186/..

4

Validation of a short-form 5-domain Niemann-Pick type C cli..:

Patterson, Marc ; Lloyd-Price, Lucy ; Guldberg, Christina...
Molecular Genetics and Metabolism. 132 (2021) 2 - p. S82-S83 , 2021

Link: https://doi.org/10.1016/..

5

Intravenous arylsulfatase A in metachromatic leukodystrophy..:

í Dali, Christine ; Groeschel, Samuel ; Moldovan, Mihai...
Annals of Clinical and Translational Neurology. 8 (2020) 1 - p. 66-80 , 2020

Link: https://doi.org/10.1002/..

6

Clinical disease progression and biomarkers in Niemann–Pick..:

Mengel, Eugen ; Bembi, Bruno ; del Toro, Mireia...
Orphanet Journal of Rare Diseases. 15 (2020) 1 - p. , 2020

Link: https://doi.org/10.1186/..

7

Safety of intrathecal delivery of recombinant human arylsul..:

í Dali, Christine ; Sevin, Caroline ; Krägeloh-Mann, Ingeborg...
Molecular Genetics and Metabolism. 131 (2020) 1-2 - p. 235-244 , 2020

Link: https://doi.org/10.1016/..

8

Annual severity increment score as a tool for stratifying p..:

Cortina-Borja, Mario ; te Vruchte, Danielle ; Mengel, Eugen...
Orphanet Journal of Rare Diseases. 13 (2018) 1 - p. , 2018

Link: https://doi.org/10.1186/..

9

Familial cerebral abscesses caused by hereditary hemorrhagi..:

Tørring, Pernille Mathiesen ; Lauridsen, Mathilde Faurholdt ; i Dali, Christine...
Clinical Case Reports. 5 (2017) 6 - p. 805-808 , 2017

Link: https://doi.org/10.1002/..

10

Cerebral gray and white matter changes and clinical course ..:

Groeschel, Samuel ; í Dali, Christine ; Clas, Philipp...
Neurology. 79 (2012) 16 - p. 1662-1670 , 2012

Link: https://doi.org/10.1212/..

11

Metachromatic leukodystrophy: natural course of cerebral MR..:

Groeschel, Samuel ; Kehrer, Christiane ; Engel, Corinna...
Journal of Inherited Metabolic Disease. 34 (2011) 5 - p. 1095-1102 , 2011

Link: https://doi.org/10.1007/..

12

Association between NPC severity score domains and correspo..:

Dali, Christine i ; Symonds, Tara ; Doll, Helen...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107066 , 2023

Link: https://doi.org/10.1016/..

13

Evaluation of the long term effect of arimoclomol in NPC:

Patterson, Marc ; Dali, Christine i ; Mengel, Eugen
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107260 , 2023

Link: https://doi.org/10.1016/..

14

Effects of sulfatide on peripheral nerves in metachromatic ..:

Farah, Mohamed H. ; Dali, Christine í ; Groeschel, Samuel...
Annals of Clinical and Translational Neurology. 11 (2023) 2 - p. 328-341 , 2023

Link: https://doi.org/10.1002/..

15

Arimoclomol reduces levels of biomarkers of lipid burden in..:

Andersen, Lene ; Petersen, Nikolaj H. ; Ingemann, Linda...
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S18 , 2022

Link: https://doi.org/10.1016/..