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Journal Abstract Search

167 related items for PubMed ID: 27117295

  • 21. Successful pregnancy in maple syrup urine disease: a case report and review of the literature.
    Grünert SC, Rosenbaum-Fabian S, Schumann A, Schwab KO, Mingirulli N, Spiekerkoetter U.
    Nutr J; 2018 May 12; 17(1):51. PubMed ID: 29753318
    [Abstract] [Full Text] [Related]

  • 22. Renal clearance of branched-chain L-amino and 2-oxo acids in maple syrup urine disease.
    Schadewaldt P, Hammen HW, Ott AC, Wendel U.
    J Inherit Metab Dis; 1999 Aug 12; 22(6):706-22. PubMed ID: 10472531
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  • 23. Intravenous administration of a branched-chain amino-acid-free solution in children and adults with acute decompensation of maple syrup urine disease: a prospective multicentre observational study.
    Alili JM, Berleur MP, Husson MC, Mention K, Schiff M, Arnoux JB, Brassier A, Guemman AS, Grisel C, Dubois S, Abi-Wardé MT, Broissand C, Servais A, Dao M, de Lonlay P.
    Orphanet J Rare Dis; 2022 May 16; 17(1):202. PubMed ID: 35578286
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  • 24. Pregnancy in an adolescent with maple syrup urine disease: Case report.
    Abadingo ME, Abacan MAR, Basas JRU, Padilla CD.
    Mol Genet Metab Rep; 2021 Jun 16; 27():100745. PubMed ID: 33868929
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  • 25. Liver transplantation for classical maple syrup urine disease: long-term follow-up.
    Díaz VM, Camarena C, de la Vega Á, Martínez-Pardo M, Díaz C, López M, Hernández F, Andrés A, Jara P.
    J Pediatr Gastroenterol Nutr; 2014 Nov 16; 59(5):636-9. PubMed ID: 24979318
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  • 26. Liver transplantation in maple syrup urine disease.
    Wendel U, Saudubray JM, Bodner A, Schadewaldt P.
    Eur J Pediatr; 1999 Dec 16; 158 Suppl 2():S60-4. PubMed ID: 10603101
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  • 27. Computational structural genomics and clinical evidence suggest BCKDK gain-of-function may cause a potentially asymptomatic maple syrup urine disease phenotype.
    Singh E, Chi YI, Kopesky J, Zimmerman M, Urrutia R, Basel D, Schwoerer JS.
    JIMD Rep; 2024 May 16; 65(3):144-155. PubMed ID: 38736638
    [Abstract] [Full Text] [Related]

  • 28. Alternative sources of valine and isoleucine for prompt reduction of plasma leucine in maple syrup urine disease patients: A case series.
    Ziadlou M, MacDonald A.
    JIMD Rep; 2022 Nov 16; 63(6):555-562. PubMed ID: 36341173
    [Abstract] [Full Text] [Related]

  • 29. A case of classical maple syrup urine disease that was successfully managed by living donor liver transplantation.
    Takano C, Ishige M, Ogawa E, Usui H, Kagawa R, Tajima G, Fujiki R, Fukao T, Mizuta K, Fuchigami T, Takahashi S.
    Pediatr Transplant; 2017 Aug 16; 21(5):. PubMed ID: 28612395
    [Abstract] [Full Text] [Related]

  • 30. Domino liver transplantation for select metabolic disorders: Expanding the living donor pool.
    Celik N, Squires JE, Soltys K, Vockley J, Shellmer DA, Chang W, Strauss K, McKiernan P, Ganoza A, Sindhi R, Bond G, Mazariegos G, Khanna A.
    JIMD Rep; 2019 Jul 16; 48(1):83-89. PubMed ID: 31392117
    [Abstract] [Full Text] [Related]

  • 31. Total branched-chain amino acids requirement in patients with maple syrup urine disease by use of indicator amino acid oxidation with L-[1-13C]phenylalanine.
    Riazi R, Rafii M, Clarke JT, Wykes LJ, Ball RO, Pencharz PB.
    Am J Physiol Endocrinol Metab; 2004 Jul 16; 287(1):E142-9. PubMed ID: 14970005
    [Abstract] [Full Text] [Related]

  • 32. Reduction of large neutral amino acid concentrations in plasma and CSF of patients with maple syrup urine disease during crises.
    Wajner M, Coelho DM, Barschak AG, Araújo PR, Pires RF, Lulhier FL, Vargas CR.
    J Inherit Metab Dis; 2000 Jul 16; 23(5):505-12. PubMed ID: 10947205
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  • 33.
    Hassan SA, Gupta V.
    ; 2024 01 16. PubMed ID: 32491705
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  • 37. An early diagnosis leads to a good prognosis: a patient with maple syrup urine disease--screened by tandem mass spectrometry.
    Lin JF, Chiu PC, Hsu HY, Lin SM, Chen YY, Hsieh KS.
    Acta Paediatr Taiwan; 2004 01 16; 45(5):287-9. PubMed ID: 15868812
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