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JIMD Reports|October 5, 2026
Dual Urea Cycle Dysfunction Caused by Coexisting Argininosuccinic Aciduria and Citrin Deficiency: Clinical, Biochemical, and Molecular Insights From an Exceptional CaseMouna Zribi, Mariem Bhouri, Safa Khatrouch, et al.
JIMD Reports|October 9, 2026
Impacting Rare Diseases Healthcare by Case-Based Telelearning: Description of the Dutch Pilot Metabolic Diseases ECHOTirza Boschma, Désirée Y van Haaften-Visser, Maaike C de Vries, et al.
JIMD Reports|November 1, 2026
Clinical History and Burden of Gaucher Disease Type 3: A Cross-Sectional Multinational StudyEugen Mengel, Sinziana Stanescu, Alessio Di Fonzo, et al.
JIMD Reports|July 25, 2016
Brain White Matter Integrity Mediates the Relationship Between Phenylalanine Control and Executive Abilities in Children with PhenylketonuriaAnna Hood, Jerrel Rutlin, Joshua S Shimony, et al.
JIMD Reports|May 14, 2015
Rhabdomyolysis-Associated Mutations in Human LPIN1 Lead to Loss of Phosphatidic Acid Phosphohydrolase ActivityGeorge G Schweitzer, Sara L Collier, Zhouji Chen, et al.
JIMD Reports|May 6, 2015
Mitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel PhenotypesTuomas Komulainen, Milla-Riikka Hautakangas, Reetta Hinttala, et al.
JIMD Reports|May 6, 2015
Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn ScreeningGwendolyn Gramer, Gisela Haege, Junmin Fang-Hoffmann, et al.
JIMD Reports|July 21, 2020
Successful fenofibrate therapy for severe and persistent hypertriglyceridemia in a boy with cirrhosis and glycerol-3-phosphate dehydrogenase 1 deficiencyLorenza Matarazzo, Valentina Ragnoni, Cristina Malaventura, et al.
JIMD Reports|July 21, 2020
p.P1379S, a benign variant with reduced ATP7B protein level in Wilson DiseaseFan Yi, Sheri A Poskanzer, Candace T Myers, et al.
JIMD Reports|July 21, 2020
COQ6 mutation in patients with nephrotic syndrome, sensorineural deafness, and optic atrophyR Justine Perrin, Caroline Rousset-Rouvière, Florentine Garaix, et al.
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