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12篇 您的检索式:作者名="OGIER H"
    题名 作者 年代 出处 被引量
1Management and emergency treatment ofneonates with a suspicion of inborn errors of metabolism 显示文摘Ogier de Baulny H 2002Semn Neonatol2002,7,1:1
2A probable sex difference in mutation rates in ornithine transearbamylase deficiency 显示文摘BonaYti-Pelli6 C Pelet A Ogier H 1990Hum Genet1990,84,2:1
3Long-term treatment with sodium phenylbutyrate in ornithine transcarbamylase-deficient patients显示文摘BRULINA AB OGIER H KORALL H 2001Mol Genet Metab2001,72,4:1
4Should transco-balamin deficiency be treated aggressively? 显示文摘Schiff M Ogier dc Baulny H Bard G 2010J Inherit MetabDis2010,33,3:1
5Chronic progressive ophthalmoplegia with large-scale mtDNA rearrangement: can we predict progression? 显示文摘Aur6 K Ogier de Banlny H Laforgt P eta| 2007Brain2007,130,6:1
6Brain-derived neurotrophic factor expression and respiratory function improve after ampakine treatment in a mouse model of Rett syndrome显示文摘Ogier M Wang H Hong E 0,,40:1
7Metabolic crisis in severely head-injured patients: is ischemia just the tip of the iceberg? 显示文摘Carre E Ogier M Borer H 2013Front Neurol2013,4,:1
8Neonatal glutaric aciduria type Ⅱ:an X-linked recessive inherited disorder显示文摘Coude FX Ogier H Charpentier C 0,,:1
9Lysinuric protein intol-erance (LPI) ; a multi organ disease by far more complex than a clas-sic urea cycle disorder显示文摘Ogier de Baulny H Schiff M Dionisi-Vici C 2012Mol Genet Metab2012,106,1:1
10Mutations in CYC1,encoding cytochrome c1 subunit of respiratory chain complex III,cause insulin-responsive hyperglycemia显示文摘Gaignard P Menezes M Schiff M Bayot A Rak M Ogier de Baulny H 2013Am J Hum Genet2013,93,:1
11Neonatal cardiomyopathies and metabolic crises due to oxidative phosphorylation defects 显示文摘Schiff M Ogier de Baulny H Lombas A 2011Semin Fetal Neonatal Med2011,16,4:1
12Long-term treatment of persistent hyperinsulinemic hypoglycemia of infancy with diazoxide:A retrospective review of 77 cases and analysis of efficacy-predicting criteria显示文摘Touati G Poggi-Travert F Ogier de Baulny H 1998Eur J Pediatr1998,157,8:1
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