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JIMD Reports|July 30, 2016
Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded PhenotypeJun Sun, Angela J McGillivray, Jason Pinner, et al.
JIMD Reports|July 30, 2016
The Spectrum of PAH Mutations and Increase of Milder Forms of Phenylketonuria in Sweden During 1965-2014Annika Ohlsson, Helene Bruhn, Anna Nordenström, et al.
JIMD Reports|February 14, 2025
2-[18F] FDG PET/CT in Rapid Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Case ReportAstrid Høj, Sonja Holm-Yildiz, Thomas Krag, et al.
JIMD Reports|January 20, 2025
D,L-3-hydroxybutyrate in the treatment of glucose transporter 1 deficiency syndrome (Glut1DS)Aya Amer, Kathryn Murrell, Liza Edmonds, et al.
JIMD Reports|January 20, 2025
Does p-lactate increase in patients with GSD1 after ingesting a meal with common-size sources of fructose and galactose? Observations from a prospective, non-blinded, crossover pilot studyCamilla Diana B Caroee, Allan M Lund
JIMD Reports|January 17, 2025
Phenotypic variability and the gender paradox in the R363C variant of Fabry diseaseAlison C Leslie, Jeanine Jarnes, Alia Ahmed, et al.
JIMD Reports|December 26, 2024
Sleep quality in children with hepatic glycogen storage diseases, a prospective observational pilot studyLucas Agnoletto, Moya Vandeleur, Mary White, et al.
JIMD Reports|November 15, 2024
Acid sphingomyelinase deficiency and Gaucher disease in adults: Similarities and differences in two macrophage storage disordersEline C B Eskes, Laura van Dussen, Johannes M F G Aerts, et al.
JIMD Reports|November 8, 2024
Enhanced differentiation between 3-hydroxyglutaric and 2-hydroxyglutaric acids facilitates diagnostic testing for glutaric aciduria type 1Denis Cyr, Michel Boutin, Bruno Maranda, et al.
JIMD Reports|November 8, 2024
Disease burden among patients with Arginase 1 deficiency and their caregivers: A multinational, cross-sectional surveySara Olofsson, Sofia Löfvendahl, Julia Widén, et al.
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