Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies
Article in Journal of Inherited Metabolic Disease (April 2024)
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Inborn Errors of Purine Salvage and Catabolism
Article in Metabolites (June 2023)
Case report: Early-onset renal failure as presenting sign of Lesch-Nyhan disease in infancy
Article in Frontiers in Pediatrics (December 2022)