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JIMD Reports|November 7, 2022
MicroRNA and metabolomics signatures for adrenomyeloneuropathy disease severityBela Rui Turk, Laila Marie Poisson, Christina Linnea Nemeth, et al.
JIMD Reports|December 8, 2025
Course of Pregnancy in a Woman With Familial Chylomicronemia Syndrome Treated With Plozasiran, a Small Interfering RNA Against ApoC3Miriam Larouche, Diane Brisson, Nathalie Roy, et al.
JIMD Reports|January 21, 2026
Hypoaminoacidemia and Pyroglutamic Aciduria: Potential Biomarkers in Malnutrition-Related HyperammonemiaM M Crenshaw, O M D'Annibale, V Martucci, et al.
JIMD Reports|January 13, 2026
Liver Transplantation in PNPO Deficiency: Management Challenges and Biological LessonsRichard Webster, Bindu Parayil Sankaran, Sushil Bandodkar, et al.
JIMD Reports|December 29, 2025
Retrospective Case Series of Fulminant Metabolic Crisis in GSDIA: Persistent Lactic Acidosis Despite Correction of Hypoglycemia May Reflect Secondary Mitochondrial DysfunctionHerodes Guzman, Nicole Stewart, Lauren Mitteer, et al.
JIMD Reports|January 29, 2026
A Novel PCK1 Gene Variant Associated With Cytosolic Phosphoenolpyruvate Carboxykinase Deficiency: Two Siblings With Different Clinical PresentationsLauma Vasiļevska, Ieva Puķīte, Madara Auzenbaha, et al.
JIMD Reports|July 3, 2025
The Management and Clinical Outcomes of Pregnancy in a Female With Glycogen Storage Disease Type IIIA Caused by Rare VariantNuria Puente-Ruiz, Saru Palaniappan, Alison Woodall, et al.
JIMD Reports|May 12, 2025
Orthotopic Liver Transplantation in a Patient With GALTp.Ser135Leu/NullKara Simpson, Erin L MacLeod, Julia Clayton, et al.
JIMD Reports|August 8, 2025
Farber's Lipogranulomatosis: Multimodal Therapy With Tocilizumab and Consolidative HSCT Improves Assessment, and Long-Term OutcomeNathanael C C Lucas, Claire Horgan, Omima Mustafa, et al.
JIMD Reports|October 17, 2025
Small Molecules as Alternate Substrates for 3-MethylglutaconylationElizabeth A Jennings, Irina Romenskaia, Robert O Ryan
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