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10篇 您的检索式:作者名="Valayannopoulos"
    题名 作者 年代 出处 被引量
1Liver glycogen storage diseases dueto phosphorylase system deficiencies:diagnosis thanks to noninvasive blood enzymatic and molecular studies显示文摘Davit-Spraul A Piraud M Dobbelaere D Valayannopoulos V Labrune P Habes D 2011Mol GenetMetab2011,104,12:1
2Congenital hyperinsulinism显示文摘Jean-Baptiste Arnoux Pascale de Lonlay Maria-Joao Ribeiro Khalid Hussain Oliver Blankenstein Klaus Mohnike Vassili Valayannopoulos Jean-Jacques Robert Jacques Rahier Christine Sempoux Christine Bellanné Virginie Verkarre Yves Aigrain Francis Jaubert Franc 2010Early Human Development2010,,5:1
3Myoclonic absence epilepsy with photosensitivity and a gain of function mutation in glutamate dehydrogenase显示文摘Nadia Bahi-Buisson Sandra El Sabbagh Christine Soufflet Fabienne Escande Nathalie Boddaert Vassili Valayannopoulos Christine Bellané-Chantelot Karine Lascelles Olivier Dulac Perrine Plouin Pascale de Lonlay 2008Seizure: European Journal of Epilepsy2008,,7:1
4What's new in metabolic and genetic hypoglycaemias: Diagnosis and management 显示文摘Valayannopoulos V Romano S Mention K 2008Eur J Pediatr2008,167,3:1
5Successful treat- ment of severe eardiomyopathy in glycogen storage disease type III With D, L - 3 - hydroxybutyrate, ketogenic and high - protein diet 显示文摘Valayannopoulos V Bajolle F Arnoux JB 2011Pediatr Res2011,70,6:1
6New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria 显示文摘Valayannopoulos V Haudry C Serre V 2010Mitochondrion2010,10,:1
7Retrospective detection of transaldolase deficiency in amniotic fluid: implications for prenatal diagnosis显示文摘Wamelink MM Struys EA Valayannopoulos V 2008Prenat Diagn2008,28,:1
8Mutations of TSEN and CASK genes are prevalent in pontocercbel]ar hypoplasias type 2 and 4显示文摘Valayannopoulos V Michot C Rodriguez D 2012Brain2012,135,:1
9Allo-immune Mem- branous Nephropathy and Recombinant Aryl Sulfatase Replacement Therapy: a Need for Tolerance Induction Therapy 显示文摘Debiec H Valayannopoulos V Boyer O 2014J Am Soe Nephrol2014,25,4:1
10Therapy for the mucopolysaccharidoses 显示文摘Valayannopoulos V Wijburg FA 2011Rheumatology ( Oxford )2011,50,5:1
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