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Pre-emptive treatment in later-onset urea cycle disorders: a clinical perspective on glycerol phenylbutyrate
Jun 25, 2026
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Orphanet Journal of Rare Diseases
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Orphanet Journal of Rare Diseases
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Screening of glucose-6-phosphate dehydrogenase deficiency in a cohort of 215,137 newborns: an epidemiological and pathogenic variant spectrum study in Yueyang, China
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XLA-MTS: a distinct clinical genetic entity characterized by immunodeficiency and neurodevelopmental delay
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