Maladies héréditaires du métabolisme et apports de la métabolomique

Daniel Ricquier

doi:10.1051/medsci/2005215512

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Volume 21 / Numéro 5 (Mai 2005)

Med Sci (Paris), 21 5 (2005) 512-516

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Numéro		Med Sci (Paris) Volume 21, Numéro 5, Mai 2005


Page(s)		512 - 516
Section		M/S revues
DOI		https://doi.org/10.1051/medsci/2005215512
Publié en ligne		15 mai 2005

Scriver CR, Beaudet AL, Sly WY, Valle D. The metabolic and molecular basis of inherited diseases. New York : MacGraw-Hill, 1995 : 2 284 p. [Google Scholar]
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Hoffmann GF, Nyhan WL, Zschocke J, et al. Inherited metabolic disease. Philadelphia : Lippincott, 2002 : 436 p. [Google Scholar]
Saudubray JM, Nassogne MC, de Lonlay P, et al. Clinical approach to inherited metabolic disorders in neonates : an overview. Semin Neonatol 2002; 7 : 3–15. [Google Scholar]
Zschocke J, Hoffmann GF. Vademecum metabolicum. Friedrichsdorf : Milupa, 1999 : 112 p. [Google Scholar]
Aubourg P, Mandel JL. X-linked adrenoleukodystrophy. Ann NY Acad Sci 1996; 804 : 471–6. [Google Scholar]
Cavazzana-Calvo M, Hacein-Bey S, de Saint Basile G, et al. Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease. Science 2000; 288 : 669–72. [Google Scholar]
Winkel LP, Van den Hout JM, Kamphoven JH, et al. Enzyme replacement therapy in late-onset Pompe’s disease : a three-year follow-up. Ann Neurol 2004; 55 : 495–502. [Google Scholar]
Moolenaar SH, van der Knaap MS, Engelke UF, et al. In vivo and in vitro NMR spectroscopy reveal a putative novel inborn error involving polyol metabolism. NMR Biomed 2001; 14 : 167–76. [Google Scholar]
Huck JH, Struys EA, Verhoeven NM, et al. Profiling of pentose phosphate pathway intermediates in blood spots by tandem mass spectrometry : application to transaldolase deficiency. Clin Chem 2003; 49 : 1375–80. [Google Scholar]
Moolenaar SH, Engelke UFH, Hoenderop SM, et al. Handbook of 1H-NMR spectroscopy in inbornn errors of metabolism. Heilbronn : SHS International, 2002 : 82 p. [Google Scholar]
Bartha AI, Foster-Barber A, Miller SP, et al. Neonatal encephalopathy : association of cytokines with MR spectroscopy and outcome. Pediatr Res 2004; 56 : 960–96. [Google Scholar]
Novotny EJ Jr, Fulbright RK, Pearl PL, et al. Magnetic resonance spectroscopy of neurotransmitters in human brain. Ann Neurol 2003; 54 : S25–31. [Google Scholar]
Zytkovicz TH, Fitzgeralg EF, Marsden D, et al. Tandem mass spectroscopy for amino, organic and fatty acid disorders in newborn dried blood spots : a two-year summary from the New England newborn screening program. Clin Chem 2001; 47 : 1945–55. [Google Scholar]

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[1] Scriver CR, Beaudet AL, Sly WY, Valle D. The metabolic and molecular basis of inherited diseases. New York : MacGraw-Hill, 1995 : 2 284 p. [Google Scholar]

[2] Fernandes J, Saudubray JM, van den Bergue G. Inborn metabolic diseases. Berlin : Springer-Verlag, 2000 : 468 p. [Google Scholar]

[3] Hoffmann GF, Nyhan WL, Zschocke J, et al. Inherited metabolic disease. Philadelphia : Lippincott, 2002 : 436 p. [Google Scholar]

[4] Saudubray JM, Nassogne MC, de Lonlay P, et al. Clinical approach to inherited metabolic disorders in neonates : an overview. Semin Neonatol 2002; 7 : 3–15. [Google Scholar]

[5] Zschocke J, Hoffmann GF. Vademecum metabolicum. Friedrichsdorf : Milupa, 1999 : 112 p. [Google Scholar]

[6] Aubourg P, Mandel JL. X-linked adrenoleukodystrophy. Ann NY Acad Sci 1996; 804 : 471–6. [Google Scholar]

[7] Cavazzana-Calvo M, Hacein-Bey S, de Saint Basile G, et al. Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease. Science 2000; 288 : 669–72. [Google Scholar]

[8] Winkel LP, Van den Hout JM, Kamphoven JH, et al. Enzyme replacement therapy in late-onset Pompe’s disease : a three-year follow-up. Ann Neurol 2004; 55 : 495–502. [Google Scholar]

[9] Moolenaar SH, van der Knaap MS, Engelke UF, et al. In vivo and in vitro NMR spectroscopy reveal a putative novel inborn error involving polyol metabolism. NMR Biomed 2001; 14 : 167–76. [Google Scholar]

[10] Huck JH, Struys EA, Verhoeven NM, et al. Profiling of pentose phosphate pathway intermediates in blood spots by tandem mass spectrometry : application to transaldolase deficiency. Clin Chem 2003; 49 : 1375–80. [Google Scholar]

[11] Moolenaar SH, Engelke UFH, Hoenderop SM, et al. Handbook of 1H-NMR spectroscopy in inbornn errors of metabolism. Heilbronn : SHS International, 2002 : 82 p. [Google Scholar]

[12] Bartha AI, Foster-Barber A, Miller SP, et al. Neonatal encephalopathy : association of cytokines with MR spectroscopy and outcome. Pediatr Res 2004; 56 : 960–96. [Google Scholar]

[13] Novotny EJ Jr, Fulbright RK, Pearl PL, et al. Magnetic resonance spectroscopy of neurotransmitters in human brain. Ann Neurol 2003; 54 : S25–31. [Google Scholar]

[14] Zytkovicz TH, Fitzgeralg EF, Marsden D, et al. Tandem mass spectroscopy for amino, organic and fatty acid disorders in newborn dried blood spots : a two-year summary from the New England newborn screening program. Clin Chem 2001; 47 : 1945–55. [Google Scholar]