Encephalopathy After a High-Dose Dexamethasone Suppression Test in a Woman With X-Linked Ornithine Transcarbamylase Deficiency
Article in AACE Clinical Case Reports (January 2024)
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Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease
Article in Orphanet Journal of Rare Diseases (January 2024)
The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey
Article in Journal of Inherited Metabolic Disease (December 2023)