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JIMD Reports|September 9, 2020
GYG1: A distal myopathy with polyglucosan bodiesStefan Nicolau, Jennifer A Tracy, David J Pisapia, et al.JIMD Reports|November 18, 2020
Successful pregnancy in a patient with mitochondrial cardiomyopathy due to ACAD9 deficiencyTalia Jacobi-Polishook, Naama Yosha-Orpaz, Yair Sagi, et al.JIMD Reports|November 18, 2020
Successful treatment of lathosterolosis: A rare defect in cholesterol biosynthesis-A case report and review of literatureJoy Yaplito-Lee, Gautham Pai, Winita Hardikar, et al.JIMD Reports|November 18, 2020
Dig deeper when it does not make sense: Juvenile xanthomas due to sitosterolemiaSharmila Kiss, Joy Yaplito Lee, James Pitt, et al.JIMD Reports|November 18, 2020
Defective platelet function in Niemann-Pick disease type C1Oscar C W Chen, Alexandria Colaco, Lianne C Davis, et al.JIMD Reports|November 18, 2020
Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospectsJirair K Bedoyan, Rosemary Hage, Ha Kyung Shin, et al.JIMD Reports|January 13, 2023
Quantifying the impact of symptomatic acute hepatic porphyria on well-being via patient-reported outcomes: Results from the Porphyria Worldwide Patient Experience Research (POWER) studyAmy Dickey, Kristen Wheeden, Desiree Lyon, et al.JIMD Reports|July 14, 2021
Translational balancing questioned: Unaltered glycosylation during disulfiram treatment in mannosyl-oligosaccharide alpha-1,2-mannnosidase-congenital disorders of glycosylation (MAN1B1-CDG)Lisa Kemme, Marianne Grüneberg, Janine Reunert, et al.JIMD Reports|July 14, 2021
Classifying molecular phenotypes of G6PC variants for pathogenic properties and to guide therapeutic developmentKathleen L Plona, Jean F Eastman, Mitchell L DrummJIMD Reports|July 14, 2021
SLC25A42-associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletionMazhor Aldosary, Shahad Baselm, Maha Abdulrahim, et al.Pageof 127