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Molecular Genetics and Metabolism|March 14, 2012
Barth syndrome in a female patientLaure Cosson, Annick Toutain, Gilles Simard, et al.
Annales De Biologie Clinique|May 26, 2017
An UPLC-MSMS method to measure plasma homocysteine concentrationCaroline Vayne, Luc Deroche, Nicolas Drillaud, et al.
American Journal of Physiology. Heart and Circulatory Physiology|July 16, 2017
Circulating acylcarnitine profile in human heart failure: a surrogate of fatty acid metabolic dysregulation in mitochondria and beyondMatthieu Ruiz, François Labarthe, Annik Fortier, et al.
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.
Orphanet Journal of Rare Diseases|February 22, 2022
Transition from child to adult health care for patients with lysosomal storage diseases in France: current status and priorities-the TENALYS study, a patient perspective surveyDelphine Genevaz, Armelle Arnoux, Catherine Marcel, et al.
Molecular Genetics and Metabolism|November 18, 2023
Systemic primary carnitine deficiency induces severe arrhythmia due to shortening of QT intervalPierre Lodewyckx, Jean Issa, Margaux Gaschignard, 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.
Orphanet Journal of Rare Diseases|July 21, 2023
Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective studyCécile Freihuber, Bahia Dahmani-Rabehi, Anaïs Brassier, et al.
Journal of Inherited Metabolic Disease|October 23, 2021
Fructose-1,6-bisphosphatase deficiency causes fatty liver disease and requires long-term hepatic follow-upMagali Gorce, Elise Lebigot, Alina Arion, 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.
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