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Late‐Onset Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD): A Case Report With a Complex Biochemical Profile by Romain Penicaud, Jean‐Baptiste Ferron, Xavier Valette, Pierrick Bauduin, Maxime Faisant, Manuel Schiff, Alexandre Nguyen, Fanny Fontaine, Stéphane Allouche
Published 2025-07-01Get full text
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Branched-chain amino acid transferase type 2 (BCAT2) deficiency: Report of an eighth case and literature review by Etienne Mondésert, Juliette Bouchereau, Manuel Schiff, Jean-François Benoist, Guilia Barcia, Boris Keren, Inès Mannes, Clément Pontoizeau, Charlotte Mansat, Apolline Imbard
Published 2025-06-01Get full text
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Clinical Practice Recommendations on Kidney Management in Methylmalonic Acidemia: an Expert Consensus Statement From ERKNet and MetabERN by Aude Servais, Miriam Zacchia, Laurène Dehoux, Rukshana Shroff, Anais Brassier, Roberta Taurisano, Stefan Kölker, Jun Oh, Gema Ariceta, Jelena Stojanovic, Friederike Hörster, Dello Strologo, Marco Spada, Manuel Schiff, Carlo Dionisi-Vici
Published 2024-12-01Get full text
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