High-Dose L-Serine Supplementation During Febrile Decompensation in SARS1 Deficiency: A Case Report and Review of the Literature
Valle, 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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Save Antenatal Presentation of MRPS22-Related Mitochondrial Disease Confirmed With Rapid Proteomics
Semcesen, 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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Save Should PNPO Deficiency Be Treated In Utero? Clinical Findings From Prenatal Pyridoxine Therapy
de 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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Save 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
Koch, 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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Save Real-World Effectiveness and Safety of Pegzilarginase Treatment in Arginase 1 Deficiency
Brassier, 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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Save Alkaline Phosphatase and Infantile GM1 Gangliosidosis: A Simple Biomarker for a Complex Disease?
Fiori, 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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Save Antenatal and Neonatal Management of Siblings With Carbonic Anhydrase VA Deficiency
Manoy, 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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Save 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
Muenzer, 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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Save Metabolic Stroke: Atypical Presentation of Succinic Semialdehyde Dehydrogenase Deficiency
Kiss, 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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