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Page 1
Transient neonatal renal failure and massive polyuria in MEGDEL syndrome.
Harbulot C, Paquay S, Dorboz I, Pichard S, Bourillon A, Benoist JF, Jardel C, Ogier de Baulny H, Boespflug-Tanguy O, Schiff M. Harbulot C, et al. Among authors: schiff m. Mol Genet Metab Rep. 2016 Mar 10;7:8-10. doi: 10.1016/j.ymgmr.2016.03.001. eCollection 2016 Jun. Mol Genet Metab Rep. 2016. PMID: 27331002 Free PMC article.
Leigh's disease due to a new mutation in the PDHX gene.
Schiff M, Miné M, Brivet M, Marsac C, Elmaleh-Bergés M, Evrard P, Ogier de Baulny H. Schiff M, et al. Ann Neurol. 2006 Apr;59(4):709-14. doi: 10.1002/ana.20818. Ann Neurol. 2006. PMID: 16566017
Early-onset hyperargininaemia: a severe disorder?
Schiff M, Benoist JF, Cardoso ML, Elmaleh-Bergès M, Forey P, Santiago J, Ogier de Baulny H. Schiff M, et al. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S175-8. doi: 10.1007/s10545-009-1137-5. Epub 2009 Apr 20. J Inherit Metab Dis. 2009. PMID: 19381865
Should transcobalamin deficiency be treated aggressively?
Schiff M, Ogier de Baulny H, Bard G, Barlogis V, Hamel C, Moat SJ, Odent S, Shortland G, Touati G, Giraudier S. Schiff M, et al. J Inherit Metab Dis. 2010 Jun;33(3):223-9. doi: 10.1007/s10545-010-9074-x. Epub 2010 Mar 30. J Inherit Metab Dis. 2010. PMID: 20352340
[Should a metabolic work-up be performed in autism?].
Schiff M, Delorme R, Benoist JF, Ogier de Baulny H. Schiff M, et al. Arch Pediatr. 2010 Jun;17(6):802-3. doi: 10.1016/S0929-693X(10)70119-6. Arch Pediatr. 2010. PMID: 20654901 French. No abstract available.
Heterogeneity of follow-up procedures in French and Belgian patients with treated hereditary tyrosinemia type 1: results of a questionnaire and proposed guidelines.
Schiff M, Broue P, Chabrol B, De Laet C, Habes D, Mention K, Sarles J, Spraul A, Valayannopoulos V, Ogier de Baulny H; French-Belgian study group for HT-1. Schiff M, et al. J Inherit Metab Dis. 2012 Sep;35(5):823-9. doi: 10.1007/s10545-011-9429-y. Epub 2011 Dec 14. J Inherit Metab Dis. 2012. PMID: 22167277
706 results