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Journal of Inherited Metabolic Disease|September 15, 2017
Long-term metabolic follow-up and clinical outcome of 35 patients with maple syrup urine diseaseMarie-Thérèse Abi-Wardé, Célina Roda, Jean-Baptiste Arnoux, et al.Molecular Genetics and Metabolism|April 11, 2020
Neonatal factors related to survival and intellectual and developmental outcome of patients with early-onset urea cycle disordersClément Pontoizeau, Célina Roda, Jean-Baptiste Arnoux, 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.American Journal of Human Genetics|August 1, 2017
Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal EncephalopathyFlorence Habarou, Yamina Hamel, Tobias B Haack, et al.Brain : a Journal of Neurology|May 31, 2015
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegiaMarie Coutelier, Cyril Goizet, Alexandra Durr, et al.Pageof 3