Maple syrup urine disease

Europe PMC · from cache · sorted by publication date

1. 1
   Branched-chain amino acids and gut microbiota: coregulation and impact on neurological function via the gut-brain axis.

   Li Q, Fan B, Xiao Y, Zhang Z, Zhao S, Liao B, Zeng J, Shan X, Ye H, Wen Y, Zhang L, Guo H, Xiao F, Zhu H. · 2026-07-14

   unreviewed
2. 2
   fNIRS insights into brain biomarkers of maple syrup urine disease (MSUD).

   Khaksari K, Tucker K, Blackshear C, Chen WL, Santiago S, Dolins K, Gropman A. · 2026-06-05

   unreviewed
3. 3
   Systemic dual-gene therapy reverses biochemical intoxication in the central metabolic compartment of Bckdha-/- mice.

   Wang J, Turgeon CT, Loken PR, Gray-Edwards H, Gao G, Tortorelli S, Wang D, Strauss KA. · 2026-05-13

   unreviewed
4. 4
   Lipid emulsion infusion and its effect on anaesthetic drugs.

   Coffey D, Mangalam Lonappan A, Dillon D. · 2026-07-08

   unreviewed
5. 5
   Maple Syrup Urine Disease on the Newborn Screen: Don't Sugarcoat It.

   Viall S, Tarini B. · 2026-07-01

   unreviewed
6. 6
   A National Overview of Nutritional Care in Diet-Treated Inborn Errors of Metabolism in Brazil

   Poloni S, Pesce L, Kanufre V, Farret L, Pugliese C, Silva J, Poubel M, Leite M, de Oliveira R. · 2026-06-01

   open access unreviewed
7. 7
   Transitioning from Laboratory-Developed Tests to a Single Commercial Reagent Kit in a National Newborn Screening Program: Impact on Analytical Performance and Harmonization.

   Carling RS, Barclay ZJ, Ward SC, Appleton M, Barski R, Benn H, Chambers K, Coakley P, Kemp H, Crabbe N, Dowde… · 2026-06-09

   open access unreviewed
8. 8
   Treatment strategies, radiological recovery, and neurodevelopmental outcomes in paediatric Maple Syrup Urine Disease: a 20-year single-centre experience from Türkiye.

   Uylaş K, Yazıcı H, Altınok YA, Çelik MY, Karapınar FE, Özkaya PY, Isik E, Eraslan C, Canda E, Cogulu O, Karap… · 2026-06-22

   open access unreviewed
9. 9
   The relationship between appetite hormones and body mass index in children with intoxication type metabolic diseases.

   Koç N, Konyalıgil DB, Özen Yeşil B, Kaldırım B, Tel Adıgüzel K, Kıreker Köylü O, Kasapkara ÇS, Fırat Oğuz E, … · 2026-06-18

   open access unreviewed
10. 10
    Evidence of docosahexaenoic acid deficiency in maple syrup urine disease: insights from plasma long-chain polyunsaturated fatty acid status.

    Zubarioglu T, Kasapçopur Ö, Akça-Yeşil S, İşat E, Şerif Cansever M, Kıykım E, Aktuğlu-Zeybek Ç. · 2026-06-12

    unreviewed

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