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181 related items for PubMed ID: 34449278

  • 1. EEG Pattern in Neonatal Maple Syrup Urine Disease: Description and Clinical Significance.
    Poothrikovil RP, Al Thihli K, Al Futaisi A.
    Neurodiagn J; 2021 Sep; 61(3):123-131. PubMed ID: 34449278
    [Abstract] [Full Text] [Related]

  • 2.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Strauss KA, Puffenberger EG, Carson VJ.
    ; 1993 Sep. PubMed ID: 20301495
    [Abstract] [Full Text] [Related]

  • 3. Maple syrup urine disease: clinical, EEG, and plasma amino acid correlations with a theoretical mechanism of acute neurotoxicity.
    Korein J, Sansaricq C, Kalmijn M, Honig J, Lange B.
    Int J Neurosci; 1994 Nov; 79(1-2):21-45. PubMed ID: 7744549
    [Abstract] [Full Text] [Related]

  • 4. Maple Syrup Urine Disease: An Uncommon Cause of Neonatal Febrile Seizures.
    K K H, Ajmera P, Agarwal A, Dahiya A, Parripati VK.
    Cureus; 2023 Jun; 15(6):e40826. PubMed ID: 37489218
    [Abstract] [Full Text] [Related]

  • 5. Maple syrup urine disease in Thai infants.
    Pangkanon S, Charoensiriwatana W, Sangtawesin V.
    J Med Assoc Thai; 2008 Oct; 91 Suppl 3():S41-4. PubMed ID: 19255991
    [Abstract] [Full Text] [Related]

  • 6. Unique EEG pattern (comb-like rhythm) in neonatal maple syrup urine disease.
    Tharp BR.
    Pediatr Neurol; 1992 Oct; 8(1):65-8. PubMed ID: 1558579
    [Abstract] [Full Text] [Related]

  • 7. Clues and challenges in the diagnosis of intermittent maple syrup urine disease.
    Pode-Shakked N, Korman SH, Pode-Shakked B, Landau Y, Kneller K, Abraham S, Shaag A, Ulanovsky I, Daas S, Saraf-Levy T, Reznik-Wolf H, Vivante A, Pras E, Almashanu S, Anikster Y.
    Eur J Med Genet; 2020 Jun; 63(6):103901. PubMed ID: 32151765
    [Abstract] [Full Text] [Related]

  • 8. The electroencephalogram in neonatal maple syrup urine disease: a case report.
    Agadi S, Sutton VR, Quach MM, Riviello JJ.
    Clin EEG Neurosci; 2012 Jan; 43(1):64-7. PubMed ID: 22423553
    [Abstract] [Full Text] [Related]

  • 9. [Maple Syrup Urine Disease in a newborn infant].
    Mazur A, Sykut-Cegielska J, Ciebiera M, Trzeciak J, Taybert J, Kowalik A, Ołtarzewski M.
    Med Wieku Rozwoj; 2007 Jan; 11(1):65-8. PubMed ID: 17965467
    [Abstract] [Full Text] [Related]

  • 10. Pathophysiology of maple syrup urine disease: Focus on the neurotoxic role of the accumulated branched-chain amino acids and branched-chain α-keto acids.
    Amaral AU, Wajner M.
    Neurochem Int; 2022 Jul; 157():105360. PubMed ID: 35577033
    [Abstract] [Full Text] [Related]

  • 11. Maple syrup urine disease (MSUD)--clinical profile of 47 Filipino patients.
    Lee JY, Chiong MA, Estrada SC, Cutiongco-De la Paz EM, Silao CL, Padilla CD.
    J Inherit Metab Dis; 2008 Dec; 31 Suppl 2():S281-5. PubMed ID: 18989748
    [Abstract] [Full Text] [Related]

  • 12. [GENETIC AND METABOLIC URGENCIES IN THE NEONATAL INTENSIVE CARE UNIT: MAPLE SYRUP URINE DISEASE].
    Páez Rojas PL, Suarez Obando F.
    Nutr Hosp; 2015 Jul 01; 32(1):420-5. PubMed ID: 26262748
    [Abstract] [Full Text] [Related]

  • 13. Second-tier test for quantification of alloisoleucine and branched-chain amino acids in dried blood spots to improve newborn screening for maple syrup urine disease (MSUD).
    Oglesbee D, Sanders KA, Lacey JM, Magera MJ, Casetta B, Strauss KA, Tortorelli S, Rinaldo P, Matern D.
    Clin Chem; 2008 Mar 01; 54(3):542-9. PubMed ID: 18178665
    [Abstract] [Full Text] [Related]

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  • 16. Intermittent maple syrup urine disease: two case reports.
    Axler O, Holmquist P.
    Pediatrics; 2014 Feb 01; 133(2):e458-60. PubMed ID: 24394677
    [Abstract] [Full Text] [Related]

  • 17. Quantification of Branched-Chain Amino Acids in Plasma by High-Performance Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS).
    Piri-Moghadam H, Miller A, Pronger D, Vicente F, Charrow J, Haymond S, Lin DC.
    Methods Mol Biol; 2022 Feb 01; 2546():65-81. PubMed ID: 36127579
    [Abstract] [Full Text] [Related]

  • 18. Treatment of maple syrup urine disease: Benefits, risks, and challenges of liver transplantation.
    Deon M, Guerreiro G, Girardi J, Ribas G, Vargas CR.
    Int J Dev Neurosci; 2023 Oct 01; 83(6):489-504. PubMed ID: 37340513
    [Abstract] [Full Text] [Related]

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  • 20. Prevention of DNA damage by L-carnitine induced by metabolites accumulated in maple syrup urine disease in human peripheral leukocytes in vitro.
    Mescka CP, Wayhs CA, Guerreiro G, Manfredini V, Dutra-Filho CS, Vargas CR.
    Gene; 2014 Sep 15; 548(2):294-8. PubMed ID: 25046137
    [Abstract] [Full Text] [Related]

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