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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 Drumm
JIMD 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.
JIMD Reports|July 14, 2021
Liver transplantation in children with inborn errors of metabolism: 30 years experience in NSW, AustraliaNoha Elserafy, Sue Thompson, Troy Dalkeith, et al.
JIMD Reports|July 14, 2021
Allogenic hematopoietic stem cell transplantation in two siblings with adult metachromatic leukodystrophy and a systematic literature reviewCecilie Videbæk, Jette Stokholm, Henrik Sengeløv, et al.
JIMD Reports|February 20, 2020
Phenotypes and genotypes of mitochondrial aminoacyl-tRNA synthetase deficiencies from a single neurometabolic clinicAaisha Al Balushi, Diana Matviychuk, Rebekah Jobling, et al.
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