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Page 1
Autism spectrum disorders in propionic acidemia patients.
de la Bâtie CD, Barbier V, Roda C, Brassier A, Arnoux JB, Valayannopoulos V, Guemann AS, Pontoizeau C, Gobin S, Habarou F, Lacaille F, Bonnefont JP, Canouï P, Ottolenghi C, De Lonlay P, Ouss L. de la Bâtie CD, et al. Among authors: bonnefont jp. J Inherit Metab Dis. 2018 Jul;41(4):623-629. doi: 10.1007/s10545-017-0070-2. Epub 2017 Aug 30. J Inherit Metab Dis. 2018. PMID: 28856627
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: bonnefont jp. J Inherit Metab Dis. 1996;19(4):478-88. doi: 10.1007/BF01799109. J Inherit Metab Dis. 1996. PMID: 8884572 Review.
Clinical presentation of mitochondrial disorders in childhood.
Munnich A, Rötig A, Chretien D, Cormier V, Bourgeron T, Bonnefont JP, Saudubray JM, Rustin P. Munnich A, et al. Among authors: bonnefont jp. J Inherit Metab Dis. 1996;19(4):521-7. doi: 10.1007/BF01799112. J Inherit Metab Dis. 1996. PMID: 8884575 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: bonnefont jp. J Inherit Metab Dis. 1999 Jun;22(4):488-502. doi: 10.1023/a:1005556207210. J Inherit Metab Dis. 1999. PMID: 10407781 Review.
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: bonnefont jp. 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.
229 results