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Venditti, Charles P.
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1

Lipodystrophy in methylmalonic acidemia associated with ele..:

Manoli, Irini ; Sysol, Justin R. ; Head, PamelaSara E....
JCI Insight.  9 (2024)  4 - p. , 2024
Link: https://doi.org/10.1172/..
 
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2

Mission possible: Gene therapy for inherited metabolic dise..:

Baruteau, Julien ; Keshavan, Nandaki ; Venditti, Charles P.
Journal of Inherited Metabolic Disease.  47 (2024)  1 - p. 5-6 , 2024
Link: https://doi.org/10.1002/..
 
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3

Severe heart failure in a unique case of cobalamin-C-defici..:

Hjalmarsson, Clara ; Backelin, Charlotte ; Thoren, Anders...
Molecular Genetics and Metabolism Reports.  39 (2024)  - p. 101089 , 2024
Link: https://doi.org/10.1016/..
 
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4

Intellectual disability and autism in propionic acidemia: a..:

Shchelochkov, Oleg A. ; Farmer, Cristan A. ; Chlebowski, Colby...
Molecular Psychiatry.  29 (2024)  4 - p. 974-981 , 2024
Link: https://doi.org/10.1038/..
 
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5

Biomarkers to predict disease progression and therapeutic r..:

Manoli, Irini ; Gebremariam, Abigael ; McCoy, Samantha...
Journal of Inherited Metabolic Disease.  46 (2023)  4 - p. 554-572 , 2023
Link: https://doi.org/10.1002/..
 
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6

Gene therapy for organic acidemias: Lessons learned from me..:

Chandler, Randy J. ; Venditti, Charles P.
Journal of Inherited Metabolic Disease.  47 (2023)  1 - p. 63-79 , 2023
Link: https://doi.org/10.1002/..
 
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7

Anaplerosis in action:

Head, PamelaSara E. ; Venditti, Charles P.
Nature Metabolism.  5 (2023)  1 - p. 5-7 , 2023
Link: https://doi.org/10.1038/..
 
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8

Systemic gene therapy using an AAV44.9 vector rescues a neo..:

Chandler, Randy J. ; Di Pasquale, Giovanni ; Choi, Eun-Young...
Molecular Therapy - Methods & Clinical Development.  30 (2023)  - p. 181-190 , 2023
Link: https://doi.org/10.1016/..
 
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9

New insights into the pathophysiology of methylmalonic acid..:

Head, PamelaSara E. ; Meier, Jordan L. ; Venditti, Charles P.
Journal of Inherited Metabolic Disease.  46 (2023)  3 - p. 436-449 , 2023
Link: https://doi.org/10.1002/..
 
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10

GYNECOLOGIC ISSUES IN METHYLMALONIC ACIDEMIA (MMA), COBALAM..:

Merideth, Melissa A. ; Sloan, Jennifer ; Van Ryzin, Carol...
Molecular Genetics and Metabolism.  135 (2022)  4 - p. 287 , 2022
Link: https://doi.org/10.1016/..
 
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11

Systemic gene therapy for methylmalonic acidemia using the ..:

Chandler, Randy J. ; Di Pasquale, Giovanni ; Sloan, Jennifer L....
Molecular Therapy - Methods & Clinical Development.  27 (2022)  - p. 61-72 , 2022
Link: https://doi.org/10.1016/..
 
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12

Growth advantage of corrected hepatocytes in a juvenile mod..:

Venturoni, Leah E. ; Chandler, Randy J. ; Liao, Jing...
Molecular Genetics and Metabolism.  137 (2022)  1-2 - p. 1-8 , 2022
Link: https://doi.org/10.1016/..
 
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13

ZBTB11 dysfunction: spectrum of brain abnormalities, bioche..:

Sumathipala, Dulika ; Strømme, Petter ; Fattahi, Zohreh...
Brain.  145 (2022)  7 - p. 2602-2616 , 2022
Link: https://doi.org/10.1093/..
 
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14

Probing the functional consequence and clinical relevance o..:

Pangilinan, Faith ; Watkins, David ; Bernard, David...
American Journal of Medical Genetics Part A.  188 (2022)  4 - p. 1124-1141 , 2022
Link: https://doi.org/10.1002/..
 
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15

Treatment of metabolic disorders using genomic technologies..:

Venturoni, Leah E. ; Venditti, Charles P.
Journal of Inherited Metabolic Disease.  45 (2022)  5 - p. 872-888 , 2022
Link: https://doi.org/10.1002/..
 
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