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" Recognition and management of fatty acid oxidation defects: a series of 107 patients. J Inherit Metab Dis... "
Genética Médica - Página 158
por Lynn B. Jorde - 2004 - 376 páginas
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Inherited Metabolic Diseases

Georg Friedrich Hoffmann - 2002 - 452 páginas
...storage disease type 0. J Clin Invest 1998;102:507-515. Saudubray JM, Martin D, de Lonlay P, et al. Recognition and management of fatty acid oxidation defects: a series of 107 patients. J Inher Metab Dis 1999;22:488-502. Thoene JG. Treatment of urea cycle disorders. J Pediatr 1999;134:...
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Steatohepatitis (NASH and ASH)

U. Leuschner, O.F.W. James, H. Dancygier - 2001 - 410 páginas
...Apoptosis and liver disease. Am J Med. 2000: 108:567-74. 4. Saudubray JM, Martin D, de Lonlay P et al. Recognition and management of fatty acid oxidation defects: a series of 107 patients. J lnher Metab Dis. 1999:22:488-502. 5. Shoffner JM, Wallace DC. Oxidative phosphorylation diseases. Disorders...
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Pediatric Gastroenterology and Clinical Nutrition

Donald Bentley, Carlos H. Lifschitz, Margaret Lawson - 2002 - 324 páginas
...pregnancy complications. Semin Perinatol 1999;23:100-12. 99. Saudubray JM, Martin D, de Lonlay P et al. Recognition and management of fatty acid oxidation...defects: a series of 107 patients. J Inherit Metab Dis 1999;22:488-502. 100. Rinaldo P Mitochondrial fatty acid oxidation disorders and cyclic vomiting syndrome....
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A Clinical Guide to Inherited Metabolic Diseases

Joe T. R. Clarke - 2002 - 310 páginas
...Boutron, M., Slama, A., Vianey-Saban, C., Bonnefont, JP, Rabier, D., Kamoun, P. & Brivet, M.(1999). Recognition and management of fatty acid oxidation defects: a series of 107 patients. Journal of Inherited Metabolic Diseases, 22, 488-502. Stanley, CA, Lieus, YK, Hsu, BYL, Burlina, AB,...
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Molecular Nuclear Medicine: The Challenge of Genomics and Proteomics to ...

Ludwig E. Feinendegen - 2003 - 824 páginas
...with acute myocardial infarction. Am J Cardiol 78:1230-1236 Saudubray JM, Martin D, Lonlay P de et al (1999) Recognition and management of fatty acid oxidation defects: a series of 107 patients. J Inher Metab Dis 22:488-502 Schelbert HR, Henze E, Sochor H et al (1986) Effects of substrate availability...
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NORD Guide to Rare Disorders

National Organization for Rare Disorders - 2003 - 982 páginas
...cardiomyopathy and sudden death. Circulation 1999;99:1337-1343. Saudubray JM, Martin D, Delonlay P, et al. Recognition and management of fatty acid oxidation defects: a series of 107 patients. / Inherit Metab Dis 1999;22:488-502. Wanders RJA, Vreken P, denBoer MEJ, et al. Disorders of mitochondria!...
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Medical Genetics

Lynn B. Jorde - 2003 - 458 páginas
...Martin D, de Lonlay P, Touati G, Poggi-Travert F, Bonnet D, Jouvet P, Boutron M, Slama A, Vianey-Saban C, Bonnefont JP, Rabier D, Kamoun P, Brivet M. (1999)...22:488-502 Scriver CR, Sly WS, Childs B, Beaudet AL, Valle D, Kinzler KW, Vogelstein B (eds) (2000) The Metabolic and Molecular Bases of Inherited Disease....
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Génétique médicale: formelle, chromosomique, moléculaire, clinique

Collège National des Enseignants et Praticiens de Génétique Médicale, Marc Jeanpierre - 2004 - 456 páginas
...Vol II. 8'" ed, McGraw-Hill Inc. 2001. p. 2297-2326. [9| SAUDUBRAY JM MARTIN D, DE LONLAY P et al. Recognition and management of fatty acid oxidation defects : a series of 107 patients. J Inher Metab Dis, 1999:22:488-502. [10] WANDERS RJA, VREKEN P, DEN BOER MEJ et al. Disorders of mitochondrial...
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Mitochondria and the Heart

José Marín-García - 2005 - 238 páginas
...Martin D, de Lonlay P, Touati G, Poggi-Travert F, Bonnet D, Jouvet P, Boutron M, Slama A, Vianey-Saban C, Bonnefont JP, Rabier D, Kamoun P, Brivet M (1999)...series of 107 patients. J Inherit Metab Dis 22:488-502 90. Shoffner JM, Wallace DC (1994) Oxidative phosphorylation diseases and mitochondrial DNA mutations:...
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Pediatric Nutrition in Chronic Diseases and Developmental Disorders ...

Shirley Ekvall, Valli K. Ekvall - 2005 - 570 páginas
...Jouvet. P.. Boutron, M., Slama. A.. VianeySaban. C., Bonnetont. JP. Rabier. D.. Kamoun. P.. Brivet. M. Recognition and management of fatty acid oxidation...a series of 107 patients. J. Inherit. Metab. Dis. 1999: 22:488. 3. Hintz. SR, Matern, D., Strauss. A.. Bennett. MJ, Hoyme. HE. Schelley. S.. Kobori,...
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