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3 ensaios clínicos encontrados, 2 ativos.
[Guidelines for the diagnosis, treatment, and management of Citrin deficiency (2026 Edition)].
🥇 DiretrizElevated cerebrospinal fluid 2-Hydroxybutyric acid in two siblings with aspartate-glutamate carrier 1 deficiency.
🥉 Relato de casoGlycerol-3-phosphate activates ChREBP, FGF21 transcription and lipogenesis in citrin deficiency.
Challenges in dietary management: a qualitative study on caregivers of preschool and school-age children with citrin deficiency.
Developing an explainable machine learning model to predict false-negative citrin deficiency cases in newborn screening.