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Annales De Biologie Clinique|March 13, 2026
[Measurement of nitrous oxide in exhaled air: feasibility, physiological constraints and implications of screening; a critical analysis]Benjamin Touzé, Nicolas Fabresse, Raphaël Denooz, et al.Elife|September 14, 2016
QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver diseaseVirginia Guarani, Claude Jardel, Dominique Chrétien, et al.Journal of Inherited Metabolic Disease|February 17, 2026
Expert-Designed Fact Sheets and AI-Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic DiseasesAline Cano, Xiaoyi Chen, Azza Khemiri, et al.Journal of Inherited Metabolic Disease|March 22, 2017
Neurocognitive profiles in MSUD school-age patientsJuliette Bouchereau, Julie Leduc-Leballeur, Samia Pichard, et al.Journal of Inherited Metabolic Disease|June 25, 2026
Long Term Follow-Up After Transplantation in Propionic Acidemia: A Retrospective French Pediatric and Adult Cohort StudyTristan Mekdade, Claire-Marine Bérat, Manuel Schiff, et al.Journal of Inherited Metabolic Disease|April 23, 2022
Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiencyMathilde Yverneau, Stéphanie Leroux, Apolline Imbard, et al.American Journal of Human Genetics|January 31, 2017
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual DisabilityYair Anikster, Tobias B Haack, Thierry Vilboux, et al.American Journal of Human Genetics|June 4, 2016
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain DeficiencyRikke K J Olsen, Eliška Koňaříková, Teresa A Giancaspero, et al.Pageof 5