Hereditary orotic aciduria

Europe PMC · fetched just now · sorted by publication date

1. 1
   From Small Data to Big Decisions: How Clinical Pharmacology Shapes Rare Disease Development.

   Xu Y, Verone-Boyle A, Schmitz N, Zahir H, Willis BA. · 2026-08-01

   unreviewed
2. 2
   Precision diagnostic and therapeutic interventions in rare genetic neurodevelopmental disorders.

   Assadourian AA, Martinez-Agosto JA. · 2025-11-22

   cited 10× open access unreviewed
3. 3
   Toward an Extensible Regulatory Framework for N-of-1 to N-of-Few Personalized RNA Therapy Design.

   Bou-Jaoudeh M, Piaton-Breda G, Pereme F, Gilbert S. · 2025-02-27

   cited 6× open access unreviewed
4. 4
   Landscape of targets within nucleoside metabolism for the modification of immune responses.

   Dunderdale EM, Abt ER. · 2025-05-30

   open access unreviewed
5. 5
   An integrated multi-omics approach allowed ultra-rapid diagnosis of a deep intronic pathogenic variant in PDHX and precision treatment in a neonate critically ill with lactic acidosis.

   Starosta RT, Larson AA, Meeks NJL, Gracie S, Friederich MW, Gaughan SM, Baker PR, Knupp KG, Michel CR, Reisdo… · 2024-10-15

   cited 2× unreviewed
6. 6
   Premarket Pivotal Trial End Points and Postmarketing Requirements for FDA Breakthrough Therapies.

   Mooghali M, Wallach JD, Ross JS, Ramachandran R. · 2024-08-01

   cited 7× open access unreviewed
7. 7
   Novel CAD gene mutations in a boy with developmental and epileptic encephalopathy 50 with dramatic response to uridine therapy: a case report and a review of the literature.

   Duan L, Ye L, Yin R, Sun Y, Yu W, Zhang Y, Zhong H, Bao X, Tian X. · 2024-03-07

   cited 6× open access unreviewed
8. 8
   Identification and validation of diagnostic biomarkers for intrahepatic cholestasis of pregnancy based on untargeted and targeted metabolomics analyses of urine metabolite profiles.

   Liu W, Chen L, Miao K, You Y, Li J, Lu J, Zhang Y. · 2023-11-30

   cited 8× open access unreviewed
9. 9
   Clinical and biochemical footprints of inherited metabolic diseases. XIII. Respiratory manifestations.

   Rossi A, Basilicata S, Borrelli M, Ferreira CR, Blau N, Santamaria F. · 2023-07-24

   cited 5× open access unreviewed
10. 10
    The Strange Case of Orotic Acid: The Different Expression of Pyrimidines Biosynthesis in Healthy Males and Females.

    Chiara F, Allegra S, Mula J, Puccinelli MP, Abbadessa G, Mengozzi G, De Francia S. · 2023-09-28

    cited 3× open access unreviewed

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