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Clinica Chimica Acta; International Journal of Clinical Chemistry|February 20, 2024
Sweet ending: When genetics prevent a dramatic CDG diagnostic mistakeAntoine Civit, Paul Gueguen, Helene Blasco, et al.International Journal of Neonatal Screening|February 22, 2023
Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in FranceCharles R Lefèvre, François Labarthe, Diane Dufour, et al.Carbohydrate Polymers|December 6, 2020
The abnormal accumulation of heparan sulfate in patients with mucopolysaccharidosis prevents the elastolytic activity of cathepsin VThibault Chazeirat, Sophie Denamur, Krzysztof K Bojarski, et al.Molecular Genetics and Metabolism|February 14, 2018
Long-term liver disease in methylmalonic and propionic acidemiasApolline Imbard, Nuria Garcia Segarra, Marine Tardieu, et al.The Lancet. Child & Adolescent Health|November 25, 2021
Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe ConsortiumImke Anne Maartje Ditters, Hidde Harmen Huidekoper, Michelle Elisabeth Kruijshaar, et al.The Journal of Pediatrics|October 20, 2022
Individual and Family Determinants for Quality of Life in Parents of Children with Inborn Errors of Metabolism Requiring a Restricted Diet: A Multilevel Analysis ApproachAbdoulaye Ouattara, Noemie Resseguier, Aline Cano, et al.The Journal of Pediatrics|March 9, 2020
Health Status of French Young Patients with Inborn Errors of Metabolism with Lifelong Restricted DietAline Cano, Noemie Resseguier, Abdoulaye Ouattara, et al.The Journal of Pediatrics|November 17, 2021
Determinants of Quality of Life in Children with Inborn Errors of Metabolism Receiving a Restricted DietAbdoulaye Ouattara, Noemie Resseguier, Aline Cano, et al.Journal of Inherited Metabolic Disease|September 17, 2019
Long-term outcome of methylmalonic aciduria after kidney, liver, or combined liver-kidney transplantation: The French experienceAnaïs Brassier, Pauline Krug, Florence Lacaille, 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.Pageof 3