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Tifft, Cynthia J.
257  Ergebnisse:
Personensuche X
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1

P134: Neuronal pathways by differential tractography correl..:

Lewis, Connor ; Vardar, Zeynep ; Kuhn, Anna...
Genetics in Medicine Open.  2 (2024)  - p. 101031 , 2024
Link: https://doi.org/10.1016/..
 
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2

Intravenous delivery of AAV9-GLB1 gene therapy for GM1 gang..:

D'Souza, Precilla ; Johnston, Jean M. ; Thurm, Audrey...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107802 , 2024
Link: https://doi.org/10.1016/..
 
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3

Application of a pentasaccharide biomarker to access treatm..:

Kell, Pamela ; Mishra, Sonali ; D'Souza, Precilla..
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107913 , 2024
Link: https://doi.org/10.1016/..
 
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4

P237: Diagnosis of Cornelia de Lange syndrome through EPISi..:

Jong, Tiffany ; Macnamara, Ellen ; Tifft, Cynthia
Genetics in Medicine Open.  2 (2024)  - p. 101133 , 2024
Link: https://doi.org/10.1016/..
 
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5

Comparing GM1 gangliosidosis patients treated and untreated..:

Acosta, Maria T. ; Lewis, Connor J. ; Vardar, Zeynep...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107743 , 2024
Link: https://doi.org/10.1016/..
 
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6

GM1 gangliosidosis type II: Results of a 10-year prospectiv..:

D'Souza, Precilla ; Farmer, Cristan ; Johnston, Jean M....
Genetics in Medicine.  26 (2024)  7 - p. 101144 , 2024
Link: https://doi.org/10.1016/..
 
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7

Thrombotic microangiopathy following systemic AAV administr..:

Salabarria, Stephanie M. ; Corti, Manuela ; Coleman, Kirsten E....
Journal of Clinical Investigation.  134 (2024)  1 - p. , 2024
Link: https://doi.org/10.1172/..
 
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8

Adeno-associated viral gene therapy for sialidosis using sm..:

Gallagher, Jillian ; Gallant, Judith ; Xu, Ping...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107834 , 2024
Link: https://doi.org/10.1016/..
 
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9

The spectrum of neurological presentation in individuals af..:

Nagy, Amanda ; Molay, Francine ; Hargadon, Sarah...
Orphanet Journal of Rare Diseases.  19 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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10

P094: Clinical and MRI correlations in GM1 patients: Findin..:

Acosta, Maria T. ; Vardar, Zeynep ; D'Souza, Precilla...
Genetics in Medicine Open.  1 (2023)  1 - p. 100123 , 2023
Link: https://doi.org/10.1016/..
 
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11

Gene expression changes in Tay–Sachs disease begin early in..:

Han, Sangwoo T. ; Hirt, Ashley ; Nicoli, Elena‐Raluca...
Journal of Inherited Metabolic Disease.  46 (2023)  4 - p. 687-694 , 2023
Link: https://doi.org/10.1002/..
 
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12

From mouse to sheep: Generating a sheep model and developin..:

Gallagher, Jillian ; Gallant, Judith ; Xu, Ping...
Molecular Genetics and Metabolism.  138 (2023)  2 - p. 107109 , 2023
Link: https://doi.org/10.1016/..
 
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13

Glb1 knockout mouse model shares natural history with type ..:

Nicoli, Elena-Raluca ; Huebecker, Mylene ; Han, Sangwoo T....
Molecular Genetics and Metabolism.  138 (2023)  2 - p. 107508 , 2023
Link: https://doi.org/10.1016/..
 
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14

Risks and benefits of anesthesia for combined pediatric pro..:

Macnamara, Ellen F. ; Loydpierson, Amelia ; Latour, Yvonne L....
Molecular Genetics and Metabolism.  140 (2023)  3 - p. 107707 , 2023
Link: https://doi.org/10.1016/..
 
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15

AMETHIST: Baseline characteristics from a phase 3 trial of ..:

Tifft, Cynthia J. ; Batsu, Isabela ; Zheng, Riliang.
Molecular Genetics and Metabolism.  138 (2023)  2 - p. 107335 , 2023
Link: https://doi.org/10.1016/..
 
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