Cheillan, David

Creatine biosynthesis and transport in health and disease

Joncquel-Chevalier Curt, M., Voicu, P.-M., Fontaine, M., Dessein, A.-F., Porchet, N., Mention-Mulliez, K., Dobbelaere, D., Soto-Ares, G., Cheillan, D., & Vamecq, J. (2015) · Biochimie

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 238

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

van de Kamp, J. M., Betsalel, O. T., Mercimek-Mahmutoglu, S., Abulhoul, L., Grünewald, S., Anselm, I., Azzouz, H., Bratkovic, D., de Brouwer, A., Hamel, B., et al. (2013) · Journal of Medical Genetics

Metabolism and Genetic DisordersGenetics and Neurodevelopmental Disorders

Cited by 164

Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia

Minutti, C. Z., Lacey, J. M., Magera, M. J., Hahn, S. H., McCann, M., Schulze, A., Cheillan, D., Dorche, C., Chace, D. H., Lymp, J. F., et al. (2004) · The Journal of Clinical Endocrinology & Metabolism

Sexual Differentiation and DisordersMetabolism and Genetic Disorders

Cited by 154

Increased incidence of congenital hypothyroidism in France from 1982 to 2012: a nationwide multicenter analysis

Barry, Y., Bonaldi, C., Goulet, V., Coutant, R., Léger, J., Paty, A.-C., Delmas, D., Cheillan, D., & Roussey, M. (2016) · Annals of Epidemiology

Thyroid Disorders and TreatmentsHead and Neck Anomalies

Cited by 86

A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis

Wilson, M. P., Kentache, T., Althoff, C. R., Schulz, C., de Bettignies, G., Mateu Cabrera, G., Cimbalistiene, L., Burnyte, B., Yoon, G., Costain, G., et al. (2024) · Cell

Glycosylation and Glycoproteins ResearchGlycogen Storage Diseases and Myoclonus

Cited by 30

The ELOVL proteins: Very and ultra long-chain fatty acids at the crossroads between metabolic and neurodegenerative disorders.

Ferrero, E., Vaz, F. M., Cheillan, D., Brusco, A., & Marelli, C. (2025) · Molecular Genetics and Metabolism

Lipid metabolism and biosynthesisMetabolism and Genetic Disorders

Cited by 24