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1,327 results

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Page 1
What's new in metabolic and genetic hypoglycaemias: diagnosis and management.
Valayannopoulos V, Romano S, Mention K, Vassault A, Rabier D, Polak M, Robert JJ, de Keyzer Y, de Lonlay P. Valayannopoulos V, et al. Among authors: romano s. Eur J Pediatr. 2008 Mar;167(3):257-65. doi: 10.1007/s00431-007-0600-2. Epub 2007 Oct 3. Eur J Pediatr. 2008. PMID: 17912550 Review.
Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B(12).
Valayannopoulos V, Hubert L, Benoist JF, Romano S, Arnoux JB, Chrétien D, Kaplan J, Fakhouri F, Rabier D, Rötig A, Lebre AS, Munnich A, de Keyzer Y, de Lonlay P. Valayannopoulos V, et al. Among authors: romano s. J Inherit Metab Dis. 2009 Apr;32(2):159-62. doi: 10.1007/s10545-009-1023-1. Epub 2009 Mar 13. J Inherit Metab Dis. 2009. PMID: 19277894
Development of liver disease despite mannose treatment in two patients with CDG-Ib.
Mention K, Lacaille F, Valayannopoulos V, Romano S, Kuster A, Cretz M, Zaidan H, Galmiche L, Jaubert F, de Keyzer Y, Seta N, de Lonlay P. Mention K, et al. Among authors: romano s. Mol Genet Metab. 2008 Jan;93(1):40-3. doi: 10.1016/j.ymgme.2007.08.126. Epub 2007 Oct 22. Mol Genet Metab. 2008. PMID: 17945525
Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy.
Barth M, Ottolenghi C, Hubert L, Chrétien D, Serre V, Gobin S, Romano S, Vassault A, Sefiani A, Ricquier D, Boddaert N, Brivet M, de Keyzer Y, Munnich A, Duran M, Rabier D, Valayannopoulos V, de Lonlay P. Barth M, et al. Among authors: romano s. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S443-53. doi: 10.1007/s10545-010-9227-y. Epub 2010 Oct 27. J Inherit Metab Dis. 2010. PMID: 20978941
Risk assessment of acute vascular events in congenital disorder of glycosylation type Ia.
Arnoux JB, Boddaert N, Valayannopoulos V, Romano S, Bahi-Buisson N, Desguerre I, de Keyzer Y, Munnich A, Brunelle F, Seta N, Dautzenberg MD, de Lonlay P. Arnoux JB, et al. Among authors: romano s. Mol Genet Metab. 2008 Apr;93(4):444-9. doi: 10.1016/j.ymgme.2007.11.006. Epub 2008 Feb 21. Mol Genet Metab. 2008. PMID: 18093857
1H MRS spectroscopy evidence of cerebellar high lactate in mitochondrial respiratory chain deficiency.
Boddaert N, Romano S, Funalot B, Rio M, Sarzi E, Lebre AS, Bahi-Buisson N, Valayannopoulos V, Desguerre I, Seidenwurm D, Brunelle F, Brami-Zylberberg F, Rötig A, Munnich A, de Lonlay P. Boddaert N, et al. Among authors: romano s. Mol Genet Metab. 2008 Jan;93(1):85-8. doi: 10.1016/j.ymgme.2007.09.003. Epub 2007 Oct 22. Mol Genet Metab. 2008. PMID: 17950645
Posterior fossa imaging in 158 children with ataxia.
Boddaert N, Desguerre I, Bahi-Buisson N, Romano S, Valayannopoulos V, Saillour Y, Seidenwurm D, Grevent D, Berteloot L, Lebre AS, Zilbovicius M, Puget S, Salomon R, Attie-Bitach T, Munnich A, Brunelle F, de Lonlay P. Boddaert N, et al. Among authors: romano s. J Neuroradiol. 2010 Oct;37(4):220-30. doi: 10.1016/j.neurad.2009.12.009. Epub 2010 Apr 7. J Neuroradiol. 2010. PMID: 20378176
1,327 results