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195 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: rabier d. 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.
Liver transplantation in propionic acidaemia.
Saudubray JM, Touati G, Delonlay P, Jouvet P, Schlenzig J, Narcy C, Laurent J, Rabier D, Kamoun P, Jan D, Revillon Y. Saudubray JM, et al. Among authors: rabier d. Eur J Pediatr. 1999 Dec;158 Suppl 2:S65-9. doi: 10.1007/pl00014325. Eur J Pediatr. 1999. PMID: 10603102
Successful treatment of severe cardiomyopathy in glycogen storage disease type III With D,L-3-hydroxybutyrate, ketogenic and high-protein diet.
Valayannopoulos V, Bajolle F, Arnoux JB, Dubois S, Sannier N, Baussan C, Petit F, Labrune P, Rabier D, Ottolenghi C, Vassault A, Broissand C, Bonnet D, de Lonlay P. Valayannopoulos V, et al. Among authors: rabier d. Pediatr Res. 2011 Dec;70(6):638-41. doi: 10.1203/PDR.0b013e318232154f. Pediatr Res. 2011. PMID: 21857385
Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.
Nizon M, Ottolenghi C, Valayannopoulos V, Arnoux JB, Barbier V, Habarou F, Desguerre I, Boddaert N, Bonnefont JP, Acquaviva C, Benoist JF, Rabier D, Touati G, de Lonlay P. Nizon M, et al. Among authors: rabier d. Orphanet J Rare Dis. 2013 Sep 23;8:148. doi: 10.1186/1750-1172-8-148. Orphanet J Rare Dis. 2013. PMID: 24059531 Free PMC article.
Liver transplantation in urea cycle disorders.
Saudubray JM, Touati G, Delonlay P, Jouvet P, Narcy C, Laurent J, Rabier D, Kamoun P, Jan D, Revillon Y. Saudubray JM, et al. Among authors: rabier d. Eur J Pediatr. 1999 Dec;158 Suppl 2:S55-9. doi: 10.1007/pl00014323. Eur J Pediatr. 1999. PMID: 10603100
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: rabier d. 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
195 results