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OTC deficiency in females: Phenotype‐genotype correlation based on a 130‐family cohort

1 Sept 2021Journal of Inherited Metabolic Disease

DOI : 10.1002/jimd.12404

Authors

Stephanie Gobin‐Limballe, Chris Ottolenghi, Fabien Reyal, Jean‐Baptiste Arnoux, Maryse Magen, Marie Simon, Anaïs Brassier, Fabienne Jabot‐Hanin, Pascale De Lonlay, Clement Pontoizeau, Manel Guirat, Marlene Rio, Roselyne Gesny, Nadine Gigarel, Ghislaine Royer, Julie Steffann, Arnold Munnich, Jean‐Paul Bonnefont