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1 . Academic Journal
Corrigendum to 'Development and validation of a multiplexed LC-MS/MS ketone body assay for clinical diagnostics' [J. Mass Spectrom. Adv. Clin. Lab 31 (2024) 49–58]
저자
by
Robin H.J. Kemperman
;
Rebecca D. Ganetzky
;
Stephen R. Master
.
소스
Journal of Mass Spectrometry and Advances in the Clinical Lab, Vol 33, Iss , Pp 21- (2024)
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5 . Academic Journal
Optimized Nutrition in Mitochondrial Disease Correlates to Improved Muscle Fatigue, Strength, and Quality of Life
저자
by
DiVito, Donna
;
Wellik, Amanda
;
Burfield, Jessica
;
Peterson, James
;
Flickinger, Jean
, et al.
소스
Neurotherapeutics: The Journal of the American Society for Experimental Neurotherapeutics
. 20(6):1723-1745
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7 . Academic Journal
Development and validation of a multiplexed LC-MS/MS ketone body assay for clinical diagnostics
저자
by
Robin H.J. Kemperman
;
Rebecca D. Ganetzky
;
Stephen R. Master
.
소스
Journal of Mass Spectrometry and Advances in the Clinical Lab, Vol 31, Iss , Pp 49-58 (2024)
Full Text (ScienceDirect)
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5 . Academic Journal
The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones
저자
by
Acosta, Maria T.
;
Adams, David R.
;
Afzali, Ben
;
Al-Beshri, Ali
;
Allworth, Aimee
, et al.
소스
In
Genetics in Medicine
October 2024 26(10)
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7 . Academic Journal
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy
저자
by
Acosta, Maria T.
;
Adam, Margaret
;
Adams, David R.
;
Alvarez, Raquel L.
;
Alvey, Justin
, et al.
소스
In
Genetics in Medicine
September 2023 25(9)
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7 . Academic Journal
P789: Novel markers of pyruvate dehydrogenase complex deficiency on fetal brain MRI
저자
by
Anne Lawrence
;
Olivier Fortin
;
Kelsey Christoffel
;
Jason Schroeder
;
Abdullah Shoaib
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101697- (2024)
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7 . Academic Journal
P870: Racial disparity in the diagnosis of mitochondrial disease
저자
by
Daniel McGinn
;
Colleen Muraresku
;
Kathleen Valverde
;
Marni Falk
;
Rebecca Ganetzky
.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101784- (2024)
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7 . Academic Journal
Biochemical characterization of patients with dihydrolipoamide dehydrogenase deficiency
저자
by
Parith Wongkittichote
;
Sanmati R. Cuddapah
;
Stephen R. Master
;
Dorothy K. Grange
;
Dennis Dietzen
, et al.
소스
JIMD Reports, Vol 64, Iss 5, Pp 367-374 (2023)
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7 . Academic Journal
Development and validation of a multiplexed LC-MS/MS ketone body assay for clinical diagnostics
저자
by
Kemperman, Robin H.J.
;
Ganetzky, Rebecca D.
;
Master, Stephen R.
.
소스
In
Journal of Mass Spectrometry and Advances in the Clinical Lab
January 2024 31:49-58
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5 . Academic Journal
Case report: Two unexpected cases of DGUOK-related mitochondrial DNA depletion syndrome presenting with hyperinsulinemic hypoglycemia
저자
by
Herodes Guzman
;
Sahr Yazdani
;
Jennifer L. Harmon
;
Kimberly A. Chapman
;
Bernadette Vitola
, et al.
소스
Frontiers in Endocrinology, Vol 14 (2023)
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