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Groeschel, Samuel
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1

The effect of intrathecal recombinant arylsulfatase A thera..:

Groeschel, Samuel ; Beerepoot, Shanice ; Amedick, Lucas Bastian...
Journal of Inherited Metabolic Disease.  47 (2024)  4 - p. 778-791 , 2024
Link: https://doi.org/10.1002/..
 
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2

Human organoid model of pontocerebellar hypoplasia 2a recap..:

Kagermeier, Theresa ; Hauser, Stefan ; Sarieva, Kseniia...
Disease Models & Mechanisms.  17 (2024)  7 - p. , 2024
Link: https://doi.org/10.1242/..
 
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3

A phase 2 study assessing TAK-611150 mg intrathecal weekly ..:

Adang, Laura A. ; Malanga, C.J. ; Burton, Barbara K....
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107744 , 2024
Link: https://doi.org/10.1016/..
 
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4

Validation of GMFC-MLD scale as a measure of gross motor fu..:

Mutua, Sylvia ; Sevagamoorthy, Anjana ; Gavazzi, Francesco...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107976 , 2024
Link: https://doi.org/10.1016/..
 
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Inventory of current practices regarding hematopoietic stem..:

Schoenmakers, Daphne H. ; Mochel, Fanny ; Adang, Laura A....
Orphanet Journal of Rare Diseases.  19 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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6

Newborn screening in metachromatic leukodystrophy – Europea..:

Laugwitz, Lucia ; Schoenmakers, Daphne H. ; Adang, Laura A....
European Journal of Paediatric Neurology.  49 (2024)  - p. 141-154 , 2024
Link: https://doi.org/10.1016/..
 
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7

Correction: Expansion of the neurodevelopmental phenotype o..:

Paulet, Alix ; Bennett-Ness, Cavan ; Ageorges, Faustine...
European Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
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8

Developmental delay can precede neurologic regression in ea..:

Adang, Laura Ann ; Groeschel, Samuel ; Grzyb, Chloe...
Molecular Genetics and Metabolism.  142 (2024)  4 - p. 108521 , 2024
Link: https://doi.org/10.1016/..
 
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9

Late‐onset Krabbe disease presenting as spastic paraplegia ..:

Mächtel, Rebecca ; Dobert, Jan‐Philipp ; Hehr, Ute...
Annals of Clinical and Translational Neurology.  11 (2024)  7 - p. 1715-1731 , 2024
Link: https://doi.org/10.1002/..
 
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10

Expansion of the neurodevelopmental phenotype of individual..:

Paulet, Alix ; Bennett-Ness, Cavan ; Ageorges, Faustine...
European Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
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11

Clinical, Imaging, Genetic, and Disease Course Characterist..:

Kern, Jan ; Böhringer, Judith ; Timmann, Dagmar...
Neurology.  102 (2024)  1 - p. , 2024
Link: https://doi.org/10.1212/..
 
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12

Clinical Significance of Diffusion Tensor Imaging in Metach..:

Amedick, Lucas Bastian ; Martin, Pascal ; Beschle, Judith...
Neuropediatrics.  54 (2023)  4 - p. 244-252 , 2023
Link: https://doi.org/10.1055/..
 
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13

Spatially regularized low-rank tensor approximation for acc..:

Gruen, Johannes ; Groeschel, Samuel ; Schultz, Thomas
NeuroImage.  271 (2023)  - p. 120004 , 2023
Link: https://doi.org/10.1016/..
 
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14

Atidarsagene autotemcel, a European post-regulatory approva..:

Jones, Simon ; Wynn, Robert ; Fumagalli, Francesca...
Molecular Genetics and Metabolism.  138 (2023)  2 - p. 107172 , 2023
Link: https://doi.org/10.1016/..
 
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15

Corrigendum to "Predicting clinical phenotypes of metachrom..:

Santhanakumaran, Vidiyaah ; Groeschel, Samuel ; Harzer, Klaus...
Molecular Genetics and Metabolism.  138 (2023)  3 - p. 107372 , 2023
Link: https://doi.org/10.1016/..
 
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