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Ganetzky, Rebecca
139  results:
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1

Moral distress in liver transplantation: When do we "cure" ..:

Reinhart, Michaela ; Ganetzky, Rebecca
Molecular Genetics and Metabolism.  141 (2024)  4 - p. 108249 , 2024
Link: https://doi.org/10.1016/..
 
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2

P870: Racial disparity in the diagnosis of mitochondrial di..:

McGinn, Daniel ; Muraresku, Colleen ; Valverde, Kathleen..
Genetics in Medicine Open.  2 (2024)  - p. 101784 , 2024
Link: https://doi.org/10.1016/..
 
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3

P789: Novel markers of pyruvate dehydrogenase complex defic..:

Lawrence, Anne ; Fortin, Olivier ; Christoffel, Kelsey...
Genetics in Medicine Open.  2 (2024)  - p. 101697 , 2024
Link: https://doi.org/10.1016/..
 
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4

Development of a semi-quantitative mitochondrial translatio..:

Kong, Christine ; Cahill, Alan ; Ganetzky, Rebecca
Molecular Genetics and Metabolism.  141 (2024)  4 - p. 108284 , 2024
Link: https://doi.org/10.1016/..
 
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5

Development and validation of a multiplexed LC-MS/MS ketone..:

Kemperman, Robin H.J. ; Ganetzky, Rebecca D. ; Master, Stephen R.
Journal of Mass Spectrometry and Advances in the Clinical Lab.  31 (2024)  - p. 49-58 , 2024
Link: https://doi.org/10.1016/..
 
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6

Biochemical diagnosis of fumarate hydratase (FH) deficiency:

Madya, Monica ; Cahill, Alan ; Bloom, Kaitlyn...
Molecular Genetics and Metabolism.  141 (2024)  4 - p. 108285 , 2024
Link: https://doi.org/10.1016/..
 
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7

Use of dichloroacetate as novel therapy in ECHS1 deficiency:

Jacob, Neil ; Ganesh, Jaya ; LoPiccolo, Mary Kate...
Molecular Genetics and Metabolism.  141 (2024)  4 - p. 108315 , 2024
Link: https://doi.org/10.1016/..
 
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8

Manifestations of OXCT1 heterozygosity:

Guzman, Herodes ; Murali, Chaya ; Yudkoff, Marc..
Molecular Genetics and Metabolism.  141 (2024)  4 - p. 108343 , 2024
Link: https://doi.org/10.1016/..
 
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9

Characteristic fetal brain MRI abnormalities in pyruvate de..:

Fortin, Olivier ; Christoffel, Kelsey ; Schroeder, Jason...
Molecular Genetics and Metabolism.  141 (2024)  4 - p. 108219 , 2024
Link: https://doi.org/10.1016/..
 
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10

P401: Patients from historically marginalized backgrounds a..:

Priestley, Jessica ; Campbell, Ian ; Opio, Paula Roig...
Genetics in Medicine Open.  1 (2023)  1 - p. 100437 , 2023
Link: https://doi.org/10.1016/..
 
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11

Optimized Nutrition in Mitochondrial Disease Correlates to ..:

DiVito, Donna ; Wellik, Amanda ; Burfield, Jessica...
Neurotherapeutics.  20 (2023)  6 - p. 1723-1745 , 2023
Link: https://doi.org/10.1007/..
 
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12

Genotypic and phenotypic spectrum of infantile liver failur..:

Vogel, Georg F. ; Mozer-Glassberg, Yael ; Landau, Yuval E....
Genetics in Medicine.  25 (2023)  6 - p. 100828 , 2023
Link: https://doi.org/10.1016/..
 
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13

BIOCHEMICAL CHARACTERIZATION OF THE PATIENTS WITH DIHYDROLI..:

Wongkittichote, Parith ; Grange, Dorothy K. ; Roper, Stephen..
Molecular Genetics and Metabolism.  138 (2023)  3 - p. 107503 , 2023
Link: https://doi.org/10.1016/..
 
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14

CENTRAL RESPIRATORY FAILURE IN TRMU DEFICIENCY: A COMPLICAT..:

Reinhart, Michaela ; Ganetzky, Rebecca
Molecular Genetics and Metabolism.  138 (2023)  3 - p. 107473 , 2023
Link: https://doi.org/10.1016/..
 
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15

Low Plasma Citrulline Guiding the Diagnosis of a Mitochondr..:

Wongkittichote, Parith ; Ganetzky, Rebecca D ; Demczko, Matthew M...
Clinical Chemistry.  69 (2023)  6 - p. 661-664 , 2023
Link: https://doi.org/10.1093/..
 
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