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Showing results (171-180 of 178) with videos related to

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Journal of Inherited Metabolic Disease|December 6, 2013
Update on transcobalamin deficiency: clinical presentation, treatment and outcomeY J Trakadis, A Alfares, O A Bodamer, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 31, 2013
Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemiaIrini Manoli, Justin R Sysol, Lingli Li, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 6, 2021
1-<sup>13</sup>C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA)Irini Manoli, Alexandra R Pass, Elizabeth A Harrington, et al.
Cell Reports|August 30, 2018
Systemic Messenger RNA Therapy as a Treatment for Methylmalonic AcidemiaDing An, Jessica L Schneller, Andrea Frassetto, et al.
Cell Reports|December 21, 2017
Systemic Messenger RNA Therapy as a Treatment for Methylmalonic AcidemiaDing An, Jessica L Schneller, Andrea Frassetto, et al.
Nature Genetics|August 16, 2011
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduriaJennifer L Sloan, Jennifer J Johnston, Irini Manoli, et al.
JCI Insight|January 25, 2024
Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylationIrini Manoli, Justin R Sysol, PamelaSara E Head, et al.
JCI Insight|December 7, 2018
FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemiaIrini Manoli, Justin R Sysol, Madeline W Epping, et al.
Pageof 18

Showing results (171-180 of 178) with videos related to

Sort By:
Pageof 18
You have reached the last page of results.This site can display upto 178 results.
Journal of Inherited Metabolic Disease|December 6, 2013
Update on transcobalamin deficiency: clinical presentation, treatment and outcomeY J Trakadis, A Alfares, O A Bodamer, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 31, 2013
Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemiaIrini Manoli, Justin R Sysol, Lingli Li, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 6, 2021
1-<sup>13</sup>C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA)Irini Manoli, Alexandra R Pass, Elizabeth A Harrington, et al.
Cell Reports|August 30, 2018
Systemic Messenger RNA Therapy as a Treatment for Methylmalonic AcidemiaDing An, Jessica L Schneller, Andrea Frassetto, et al.
Cell Reports|December 21, 2017
Systemic Messenger RNA Therapy as a Treatment for Methylmalonic AcidemiaDing An, Jessica L Schneller, Andrea Frassetto, et al.
Nature Genetics|August 16, 2011
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduriaJennifer L Sloan, Jennifer J Johnston, Irini Manoli, et al.
JCI Insight|January 25, 2024
Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylationIrini Manoli, Justin R Sysol, PamelaSara E Head, et al.
JCI Insight|December 7, 2018
FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemiaIrini Manoli, Justin R Sysol, Madeline W Epping, et al.
Pageof 18