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JIMD Reports

IF1.8
Papers39
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Journal Papers 49
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High-Dose L-Serine Supplementation During Febrile Decompensation in SARS1 Deficiency: A Case Report and Review of the Literature
delete2026-05-18
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deleteValle, Victor Andres; Wiedemnan, Arnaud; Feigerlova, Eva; Coelho, David; Jeannesson, Elise; Rotaru, Irina; Merten, Marc; Raharimanana, Alexandre; Feillet, Francois; Ravel, Jean-Marie
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Adult Refsum Disease: Case Series of Reducing Circulating Phytanic Acid Levels With Dietary Interventions
delete2026-05-15
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deleteFirman, Sarah J.; Cook, Jennifer; Hall, Imogen; Yeung, Katie; Buttigieg, Raphael; Vaz, Fiona; Wierzbicki, Anthony S.; Ramachandran, Radha
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Progressive White Matter Changes in Mitochondrial Disease: A Quantitative MRI Study
delete2026-05-08
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deleteMickelsson, Nora; Hirvonen, Jussi; Martikainen, Mika H.
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Clinical Outcomes and Correlation With Biochemical Control in Hydroxocobalamin-Treated Patients With Early-Onset Cobalamin C Disease
delete2026-04-27
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deleteSelvanathan, Arthavan; Hertzog, Ashley; Russell, Jacqui; Junek, Rosie; Ellaway, Carolyn; Lichkus, Kate; Tolun, Adviye Ayper; Bhattacharya, Kaustuv
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Antenatal Presentation of MRPS22-Related Mitochondrial Disease Confirmed With Rapid Proteomics
delete2026-04-24
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deleteSemcesen, Liana N.; Ball, Megan; Hock, Daniella H.; Kaye, Juliet; Woods, Aimee; De Jong, Lucas; Christodoulou, John; Thorburn, David R.; Compton, Alison G.; Stroud, David A.; Liebelt, Jan
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Should PNPO Deficiency Be Treated In Utero? Clinical Findings From Prenatal Pyridoxine Therapy
delete2026-04-20
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deletede Puyraimond, Chloe; Pichard, Samia; Girard, Muriel; Delanne, Julian; Faivre, Laurence; Imbard, Apolline; Baurand, Amandine; Benoist, Jean-Francois; Mills, Philippa B.; Clayton, Peter T.; Schiff, Manuel
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Teriparatide in Two Patients With Mucopolysaccharidosis Type IVB
delete2026-04-13
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deleteWijnen, Mark; van Velsen, Evert F. S.; Milhous, J. Gert-Jan; Oussoren, Esmee; van der Eerden, Bram C. J.; Wagenmakers, Margreet A. E. M.
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Long-Term Safety and Efficacy of Pegvaliase in Japanese Adults With Phenylketonuria: Final Results of a Phase III Trial
delete2026-04-08
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deleteNakajima, Yoko; Ishige, Mika; Ito, Tetsuya; Hamazaki, Takashi; Kuwahara, Mitsuhiro; Lee, Lawrence; Shintaku, Haruo
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Unifying the Communities of Early-Onset Glycogen Storage Disease Type IV and Adult Polyglucosan Body Disease Through a Genetic Prevalence Study of GBE1-Related Disease
delete2026-04-06
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deleteKoch, Rebecca L.; Akman, H. Orhan; Chown, Erin; Goldman, Deberah; Levenson, Jeff; Lu, Qing; Michalovicz Gill, Lindsay T.; Morgan, Matthew; Orthmann-Murphy, Jennifer L.; Pires, Natacha T.; Reef, Rebecca; Saxe, Harriet; Singer-Berk, Moriel; Baxter, Samantha
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Real-World Effectiveness and Safety of Pegzilarginase Treatment in Arginase 1 Deficiency
delete2026-03-26
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deleteBrassier, Anais; Arion, Alina; Arnoux, Jean-baptiste; Barth, Magalie; Dobbelaere, Dries; Gorce, Magali; Grovdal, Michael; Laroche, Cecile; Rime, Olivia; Schiff, Manuel; Rudebeck, Mattias
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Alkaline Phosphatase and Infantile GM1 Gangliosidosis: A Simple Biomarker for a Complex Disease?
delete2026-03-05
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deleteFiori, Laura; Turzi, Massimiliano; Tagi, Veronica Maria; Asnaghi, Laura; Bonaventura, Eleonora; Tonduti, Davide; Spaccini, Luigina; Saielli, Laura Assunta; Montanari, Chiara; Cairello, Francesca; Mannarino, Savina; Ferrario, Matilde; Del Longo, Alessandra; Napolitano, Marcello; Righini, Andrea; Semeraro, Michela; Venerando, Anna; Miceli, Martina; Verduci, Elvira; Zuccotti, Gianvincenzo
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Antenatal and Neonatal Management of Siblings With Carbonic Anhydrase VA Deficiency
delete2026-02-23
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deleteManoy, Sophie; Minto, Tahlee; Demetriou, Kalliope; Lynch, Matthew; Selvanathan, Arthavan; Jardine, Luke; Lipke, Michelle; Bursle, Carolyn; Inwood, Anita; McGill, Jim; Coman, David
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Intrathecal idursulfase-IT in children younger than 3 years with neuronopathic mucopolysaccharidosis II in a single-arm, open-label, phase 2/3 substudy and extension
delete2026-02-22
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deleteMuenzer, Joseph; Burton, Barbara K.; Harmatz, Paul; Gutierrez-solana, Luis Gonzalez; Ruiz-garcia, Matilde; Jones, Simon A.; Guffon, Nathalie; Inbar-feigenberg, Michal; Bratkovic, Drago; Rust, Stewart; Hale, Michael; Wu, Yuna; Yee, Karen S.; Whiteman, David A. H.; Alexanderian, David
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Clinical Profiles, Genetic Variants, and Neurodevelopmental Outcomes Following Liver Transplantation in Maple Syrup Urine Disease: A Study From Palestine
delete2026-02-22
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deleteKhalaf-Nazzal, Reham; Haj-Ahmad, Huthaifa; Zaid, Jana; Abushamleh, Mohammed; Dweikat, Imad
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Pegvaliase Treatment for Adolescents With Phenylketonuria: A Multi-Site Study
delete2026-02-17
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deleteHollander, Suzanne; Valli, Briana; Vucko, Erika; Lah, Melissa; Sanchez-Valle, Amarilis; Murray, Brittany M.; Kritzer, Amy; Sacharow, Stephanie
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Mitochondrial Dysfunction in Propionic Acidemia: A Case-Report and Review of the Literature
delete2026-02-04
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deleteWalther, Brandon K.; Murray, Brittany M.; Pandiyan, Poornima; Ray, Randall; Yeoh, Laura; Kritzer, Amy
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Metabolic Stroke: Atypical Presentation of Succinic Semialdehyde Dehydrogenase Deficiency
delete2026-02-01
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deleteKiss, Sharmila; Leventer, Richard J.; Duff, Cormac; Macdonald-laurs, Emma; Quinn, Olivia-paris; Nazer, Fahaz; Cao, Michelle; Srikumar, Abisha; Dalina, Jenzen; Eggington, Mary; Yaplito-Lee, Joy
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Epilepsy Phenotype and EEG Finding of Rhythmic High-Amplitude Delta With Superimposed Spikes (RHADS) in Succinate Dehydrogenase Deficiency
delete2026-02-01
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deleteBowen, Aaron B.; Nwanze, Chiadika; Alves, Cesar; Rodan, Lance; Pinto, Anna Lecticia; Walker, Melissa A.; Anselm, Irina; Pearl, Phillip L.
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