I agree that this site is using cookies. You can find further informations here.
X
Ganetzky, Rebecca
142  results:
?
1

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/..
 
?
2

The future of mitochondrial medicine requires both lumping ..:

Ganetzky, Rebecca D.
Molecular Genetics and Metabolism.  142 (2024)  4 - p. 108536 , 2024
Link: https://doi.org/10.1016/..
 
?
3

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/..
 
?
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/..
 
?
5

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/..
 
?
6

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/..
 
?
7

Utility of genome sequencing in exome‐negative pediatric pa..:

Nomakuchi, Tomoki T. ; Teferedegn, Eden Y. ; Li, Dong...
American Journal of Medical Genetics Part A.  , 2024
Link: https://doi.org/10.1002/..
 
?
8

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/..
 
?
9

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/..
 
?
10

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/..
 
?
11

Corrigendum to "Development and validation of a multiplexed..:

Kemperman, Robin H.J. ; Ganetzky, Rebecca D. ; Master, Stephen R.
Journal of Mass Spectrometry and Advances in the Clinical Lab.  33 (2024)  - p. 21 , 2024
Link: https://doi.org/10.1016/..
 
?
12

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/..
 
?
13

Case report: Two unexpected cases of DGUOK-related mitochon..:

Guzman, Herodes ; Yazdani, Sahr ; Harmon, Jennifer L....
Frontiers in Endocrinology.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
?
14

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/..
 
?
15

IMPROVING THE DIAGNOSTIC EVALUATION OF CHILDREN WITH INTELL..:

Alharbi, Hana ; Davis, Torrin ; Desrochers, Colette...
Molecular Genetics and Metabolism.  138 (2023)  3 - p. 107383 , 2023
Link: https://doi.org/10.1016/..
 
1-15