메뉴 건너뛰기




Volumn 67, Issue 4, 2007, Pages 337-343

Advances in the diagnosis and treatment of maple syrup urine disease: Experience in Galicia (Spain);Avances en el diagnóstico y tratamiento de la enfermedad de jarabe de arce, experiencia en Galicia

Author keywords

Branched chain amino acids; Dried blood spot sample; Maple syrup urine disease (MSUD); Neonatal Screening; Tandem mass spectrometry

Indexed keywords

LEUCINE;

EID: 35448986517     PISSN: 16954033     EISSN: 16959531     Source Type: Journal    
DOI: 10.1157/13110606     Document Type: Article
Times cited : (8)

References (21)
  • 1
    • 0002977005 scopus 로고    scopus 로고
    • Maple syrup urine disease (branched-chain ketoaciduria)
    • Scriver Ch R, Beaudet AL, Sly WS, Valle MD, editors, 8th ed. New York: McGraw-Hill;
    • Chuang DT, Shih VE. Maple syrup urine disease (branched-chain ketoaciduria). En: Scriver Ch R, Beaudet AL, Sly WS, Valle MD, editors. The metabolic & molecular bases of inherited disease. 8th ed. New York: McGraw-Hill; 2001. p. 971-2005.
    • (2001) The metabolic & molecular bases of inherited disease , pp. 971-2005
    • Chuang, D.T.1    Shih, V.E.2
  • 3
    • 0242362630 scopus 로고    scopus 로고
    • Use of tandem mass spectrometry for multianalyte screening of dried blood speciemens from newborns
    • Chance DH, Kalas TA, Naylor EW. Use of tandem mass spectrometry for multianalyte screening of dried blood speciemens from newborns. Clin Chem. 2003;49:1797-817.
    • (2003) Clin Chem , vol.49 , pp. 1797-1817
    • Chance, D.H.1    Kalas, T.A.2    Naylor, E.W.3
  • 4
    • 0034775820 scopus 로고    scopus 로고
    • Tandem mass spectrometric analysis for amino, organic and fatty acid disorders in newborn dried blood spots: A two-years summary from the New England Newborn Screening Program
    • Zytkovicz HT, Fitzgerald FE, Marsden D, Larson AC, Shih, EV, Johnson MD, et al. Tandem mass spectrometric analysis for amino, organic and fatty acid disorders in newborn dried blood spots: a two-years summary from the New England Newborn Screening Program. Clin Chem. 2001;47:1945-55.
    • (2001) Clin Chem , vol.47 , pp. 1945-1955
    • Zytkovicz, H.T.1    Fitzgerald, F.E.2    Marsden, D.3    Larson, A.C.4    Shih, E.V.5    Johnson, M.D.6
  • 5
    • 0036405455 scopus 로고    scopus 로고
    • The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism
    • Chance DH, Kalas TA, Naylor EW. The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism. Annu Rev Genomics Hum Genet. 2002;3:17-45.
    • (2002) Annu Rev Genomics Hum Genet , vol.3 , pp. 17-45
    • Chance, D.H.1    Kalas, T.A.2    Naylor, E.W.3
  • 6
    • 33845874403 scopus 로고    scopus 로고
    • Huang HP, Chu KL, Chien YH, Wei ml, Wu ST, Wang SF, et al. Tandem mass neonatal screening in Taiwan-report from one center. J Formos Med Assoc. 2006;105:882-6.
    • Huang HP, Chu KL, Chien YH, Wei ml, Wu ST, Wang SF, et al. Tandem mass neonatal screening in Taiwan-report from one center. J Formos Med Assoc. 2006;105:882-6.
  • 8
    • 85030576296 scopus 로고    scopus 로고
    • Dirección Xeral de Saúde Pública. Guías de Saúde Pública. Serie II. Sección E. Endocrinas e Metab.: Informe 3 Actualización del Programa Gallego para la detección precoz de enfermedades endocrinas y metabólicas en período neonatal. Resultados 1995-2005. Santiago de Compostela: Conselleria de Sanidade, Xunta de Galicia; 2006.
    • Dirección Xeral de Saúde Pública. Guías de Saúde Pública. Serie II. Sección E. Endocrinas e Metab.: Informe 3 "Actualización del Programa Gallego para la detección precoz de enfermedades endocrinas y metabólicas en período neonatal. Resultados 1995-2005". Santiago de Compostela: Conselleria de Sanidade, Xunta de Galicia; 2006.
  • 9
    • 84895301253 scopus 로고    scopus 로고
    • Wendel U, Ogier de Baulny H. Branched-Chain organic acidurias/ acidemias. En: Fernandes J, Saudubray JM, Van Den Berghe G, Walter JH, editors. Inborn metabolic diseases. Diagnosis and treatment. 4ed. Berlín: Springer; 2006. p. 245-62.
    • Wendel U, Ogier de Baulny H. Branched-Chain organic acidurias/ acidemias. En: Fernandes J, Saudubray JM, Van Den Berghe G, Walter JH, editors. Inborn metabolic diseases. Diagnosis and treatment. 4ed. Berlín: Springer; 2006. p. 245-62.
  • 11
    • 33746865225 scopus 로고    scopus 로고
    • Maple syrup urine disease: Favourable effect of early diagnosis by newborn screening on the neonatal course of the disease
    • Simon E, Fingerhut R, Baumkötter J, Konstantopoulou V, Ratschmann R, Wendel U. Maple syrup urine disease: favourable effect of early diagnosis by newborn screening on the neonatal course of the disease. J Inherit Metab Dis. 2006;29: 532-7.
    • (2006) J Inherit Metab Dis , vol.29 , pp. 532-537
    • Simon, E.1    Fingerhut, R.2    Baumkötter, J.3    Konstantopoulou, V.4    Ratschmann, R.5    Wendel, U.6
  • 12
    • 15244341398 scopus 로고    scopus 로고
    • Diagnosis of MSUD by newborn screening allows early intervention without extraneous detoxification
    • Heldt K, Schwahn B, Marquardt I, Grotzke M, Wendel U. Diagnosis of MSUD by newborn screening allows early intervention without extraneous detoxification. Mol Genet Metab. 2005;84:313-6.
    • (2005) Mol Genet Metab , vol.84 , pp. 313-316
    • Heldt, K.1    Schwahn, B.2    Marquardt, I.3    Grotzke, M.4    Wendel, U.5
  • 13
    • 33644827373 scopus 로고    scopus 로고
    • Impact of longitudinal plasma leucine levels on the intellectual outcome in patients with classic MSUD
    • Hoffmann B, Helbling Ch, Schadewaldt P, Wendel U. Impact of longitudinal plasma leucine levels on the intellectual outcome in patients with classic MSUD. Pediatr Res. 2006;59: 17-20.
    • (2006) Pediatr Res , vol.59 , pp. 17-20
    • Hoffmann, B.1    Helbling, C.2    Schadewaldt, P.3    Wendel, U.4
  • 14
    • 0031980609 scopus 로고    scopus 로고
    • Maple syrup urine disease: Nutritional management by intravenous hyperalimentation and uneventual course after surgical repair of dislocation on the hip
    • Koga Y, Iwanaga T, Yoshida I, Yoshino M, Kaneko S, Kato H. Maple syrup urine disease: nutritional management by intravenous hyperalimentation and uneventual course after surgical repair of dislocation on the hip. J Inher Metab Dis. 1998;21:177-8.
    • (1998) J Inher Metab Dis , vol.21 , pp. 177-178
    • Koga, Y.1    Iwanaga, T.2    Yoshida, I.3    Yoshino, M.4    Kaneko, S.5    Kato, H.6
  • 16
    • 0142121293 scopus 로고    scopus 로고
    • Relationship of causative genetic mutations in maple syrup urine disease with their clinical expression
    • Nellis MM, Kasinski A, Carlson M, Allen R, Schaefer AM, Schwartz EM, et al. Relationship of causative genetic mutations in maple syrup urine disease with their clinical expression. Mol Genet Metab. 2003;80:189-95.
    • (2003) Mol Genet Metab , vol.80 , pp. 189-195
    • Nellis, M.M.1    Kasinski, A.2    Carlson, M.3    Allen, R.4    Schaefer, A.M.5    Schwartz, E.M.6
  • 17
    • 2342434850 scopus 로고    scopus 로고
    • Structural and biochemical basis for novel mutations in homozygous Israeli maple syrup urine disease patients
    • Chuang JL, Wynn RM, Moss CC, Song J, Li J, Awad N, et al. Structural and biochemical basis for novel mutations in homozygous Israeli maple syrup urine disease patients. J Biol Chem. 2004;279:17792-800.
    • (2004) J Biol Chem , vol.279 , pp. 17792-17800
    • Chuang, J.L.1    Wynn, R.M.2    Moss, C.C.3    Song, J.4    Li, J.5    Awad, N.6
  • 21
    • 33746865225 scopus 로고    scopus 로고
    • Maple syrup urine disease: Favourable effect of early diagnosis by newborn screening on the neonatal course or the disease
    • Simon E, Fingerhurt R, Baumkötter J, Konstantopoulou V, Ratschmann R, Wendel U. Maple syrup urine disease: Favourable effect of early diagnosis by newborn screening on the neonatal course or the disease. J Inherit Metab Dis. 2006;29:532-7.
    • (2006) J Inherit Metab Dis , vol.29 , pp. 532-537
    • Simon, E.1    Fingerhurt, R.2    Baumkötter, J.3    Konstantopoulou, V.4    Ratschmann, R.5    Wendel, U.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.