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221 results

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Page 1
Genetic hypoglycaemia in infancy and childhood: pathophysiology and diagnosis.
Saudubray JM, de Lonlay P, Touati G, Martin D, Nassogne MC, Castelnau P, Sevin C, Laborde C, Baussan C, Brivet M, Vassault A, Rabier D, Bonnefont JP, Kamoun P. Saudubray JM, et al. Among authors: kamoun p. J Inherit Metab Dis. 2000 May;23(3):197-214. doi: 10.1023/a:1005675827612. J Inherit Metab Dis. 2000. PMID: 10863937 Review. No abstract available.
Dicarboxylic aminoaciduria.
Kamoun P, Parvy P, Rabier D, Bardet J, Billette de Villemeur T, Saudubray JM. Kamoun P, et al. J Inherit Metab Dis. 1994;17(6):758. doi: 10.1007/BF00712024. J Inherit Metab Dis. 1994. PMID: 7707705 No abstract available.
Metabolic intermediates in lactic acidosis: compounds, samples and interpretation.
Poggi-Travert F, Martin D, Billette de Villemeur T, Bonnefont JP, Vassault A, Rabier D, Charpentier C, Kamoun P, Munnich A, Saudubray JM. Poggi-Travert F, et al. Among authors: kamoun p. J Inherit Metab Dis. 1996;19(4):478-88. doi: 10.1007/BF01799109. J Inherit Metab Dis. 1996. PMID: 8884572 Review.
Recognition and management of fatty acid oxidation defects: a series of 107 patients.
Saudubray JM, 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. Saudubray JM, et al. Among authors: kamoun p. J Inherit Metab Dis. 1999 Jun;22(4):488-502. doi: 10.1023/a:1005556207210. J Inherit Metab Dis. 1999. PMID: 10407781 Review.
A false hyperglycinaemia.
Parvy P, Bardet J, Rabier D, Nedellec J, Kamoun P. Parvy P, et al. Among authors: kamoun p. J Inherit Metab Dis. 1991;14(1):112. doi: 10.1007/BF01804401. J Inherit Metab Dis. 1991. PMID: 1861452 No abstract available.
Attempt at therapy in sulphite oxidase deficiency.
Tardy P, Parvy P, Charpentier C, Bonnefont JP, Saudubray JM, Kamoun P. Tardy P, et al. Among authors: kamoun p. J Inherit Metab Dis. 1989;12(1):94-5. doi: 10.1007/BF01805537. J Inherit Metab Dis. 1989. PMID: 2501590 No abstract available.
Liver transplantation in two cases of propionic acidaemia.
Schlenzig JS, Poggi-Travert F, Laurent J, Rabier D, Jan D, Wendel U, Sewell AC, Revillon Y, Kamoun P, Saudubray JM. Schlenzig JS, et al. Among authors: kamoun p. J Inherit Metab Dis. 1995;18(4):448-61. doi: 10.1007/BF00710056. J Inherit Metab Dis. 1995. PMID: 7494403
221 results