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Patterson, Marc, C
5853  Ergebnisse:
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1

A case report of hemimegalencephaly with super-refractory s..:

Vasquez, Alejandra ; Miller, Kai J. ; Youssef, Paul E....
Seizure: European Journal of Epilepsy.  116 (2024)  - p. 156-158 , 2024
Link: https://doi.org/10.1016/..
 
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2

Neurological manifestations in PMM2-congenital disorders of..:

Muthusamy, Karthik ; Perez-Ortiz, Judit M. ; Ligezka, Anna N....
Genetics in Medicine.  26 (2024)  2 - p. 101027 , 2024
Link: https://doi.org/10.1016/..
 
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3

Consensus guidelines for the monitoring and management of m..:

Adang, Laura A. ; Bonkowsky, Joshua L. ; Boelens, Jaap Jan...
Cytotherapy.  26 (2024)  7 - p. 739-748 , 2024
Link: https://doi.org/10.1016/..
 
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4

Clinical disease characteristics of patients with Niemann-P..:

Bolton, Shaun C. ; Soran, Vina ; Marfa, Mercedes Pineda...
Orphanet Journal of Rare Diseases.  17 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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5

Hematopoietic cell transplantation for sialidosis type I:

Gupta, Ashish O. ; Patterson, Marc C. ; Wood, Tim...
Molecular Genetics and Metabolism Reports.  30 (2022)  - p. 100832 , 2022
Link: https://doi.org/10.1016/..
 
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6

Prospective longitudinal study of neurological disease traj..:

Giugliani, Roberto ; Heron, Benedicte ; Jarnes, Jeanine R....
Molecular Genetics and Metabolism.  135 (2022)  2 - p. S47-S48 , 2022
Link: https://doi.org/10.1016/..
 
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7

Lost in translation—Challenges in drug development for inhe..:

Lachmann, Robin H. ; Patterson, Marc C. ; Sirrs, Sandra
Journal of Inherited Metabolic Disease.  45 (2022)  3 - p. 381-382 , 2022
Link: https://doi.org/10.1002/..
 
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8

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/..
 
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9

Correction to: Clinical disease progression and biomarkers ..:

Mengel, Eugen ; Bembi, Bruno ; del Toro, Mireia...
Orphanet Journal of Rare Diseases.  16 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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10

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/..
 
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11

List of Contributors:

, In: Child Neurology,
Aaen, Gregory ; Abroms, Israel F. ; Ådén, Ulrika... - p. ix-xi , 2021
Link: https://doi.org/10.1016/..
 
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12

Spontaneous improvement of carbohydrate-deficient transferr..:

Witters, Peter ; Edmondson, Andrew C. ; Lam, Christina...
Orphanet Journal of Rare Diseases.  16 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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13

Free sialic acid storage disorder: Progress and promise:

Huizing, Marjan ; Hackbarth, Mary E. ; Adams, David R....
Neuroscience Letters.  755 (2021)  - p. 135896 , 2021
Link: https://doi.org/10.1016/..
 
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14

Current directions in tau research: Highlights from Tau 202:

Sexton, Claire ; Snyder, Heather ; Beher, Dirk...
Alzheimer's & Dementia.  18 (2021)  5 - p. 988-1007 , 2021
Link: https://doi.org/10.1002/..
 
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15

Validation of the 5-domain Niemann-Pick type C Clinical Sev..:

Patterson, Marc C. ; Lloyd-Price, Lucy ; Guldberg, Christina...
Orphanet Journal of Rare Diseases.  16 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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