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Vassili Valayannopoulos
Vassili Valayannopoulos
Centre de Référence Maladies Métaboliques- Hôpital Necker-Enfants Malades
Correu electrònic verificat a nck.aphp.fr
Títol
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Citada per
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Suggested guidelines for the diagnosis and management of urea cycle disorders
J Häberle, N Boddaert, A Burlina, A Chakrapani, M Dixon, M Huemer, ...
Orphanet journal of rare diseases 7, 1-30, 2012
7072012
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
MR Baumgartner, F Hörster, C Dionisi-Vici, G Haliloglu, D Karall, ...
Orphanet journal of rare diseases 9, 1-36, 2014
6542014
Mucopolysaccharidosis vi
V Valayannopoulos, H Nicely, P Harmatz, S Turbeville
Orphanet journal of rare diseases 5, 1-20, 2010
3922010
Congenital hyperinsulinism: current trends in diagnosis and therapy
JB Arnoux, V Verkarre, C Saint-Martin, F Montravers, A Brassier, ...
Orphanet journal of rare diseases 6, 1-14, 2011
3482011
Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study
M Aldenhoven, RF Wynn, PJ Orchard, A O’Meara, P Veys, A Fischer, ...
Blood, The Journal of the American Society of Hematology 125 (13), 2164-2172, 2015
3312015
A phase 3 trial of sebelipase alfa in lysosomal acid lipase deficiency
BK Burton, M Balwani, F Feillet, I Barić, TA Burrow, C Camarena Grande, ...
New England Journal of Medicine 373 (11), 1010-1020, 2015
2832015
Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure
MH de Ru, JJ Boelens, AM Das, SA Jones, JH van der Lee, N Mahlaoui, ...
Orphanet journal of rare diseases 6, 1-9, 2011
2672011
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
S Kölker, AG Cazorla, V Valayannopoulos, AM Lund, AB Burlina, ...
Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2015
2582015
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
S Kölker, V Valayannopoulos, AB Burlina, J Sykut-Cegielska, FA Wijburg, ...
Journal of inherited metabolic disease 38, 1059-1074, 2015
2452015
Therapy for the mucopolysaccharidoses
V Valayannopoulos, FA Wijburg
Rheumatology 50 (suppl_5), v49-v59, 2011
2232011
Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study
CJ Hendriksz, B Burton, TR Fleming, P Harmatz, D Hughes, SA Jones, ...
Journal of inherited metabolic disease 37, 979-990, 2014
2202014
Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece
B Héron, Y Mikaeloff, R Froissart, G Caridade, I Maire, C Caillaud, ...
American journal of medical genetics Part A 155 (1), 58-68, 2011
1782011
Multiple OXPHOS deficiency in the liver, kidney, heart, and skeletal muscle of patients with methylmalonic aciduria and propionic aciduria
Y De Keyzer, V Valayannopoulos, JF Benoist, F Batteux, F Lacaille, ...
Pediatric research 66 (1), 91-95, 2009
1782009
The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects
P Harmatz, KE Mengel, R Giugliani, V Valayannopoulos, SP Lin, R Parini, ...
Molecular Genetics and Metabolism 109 (1), 54-61, 2013
1652013
LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood
C Michot, L Hubert, M Brivet, L De Meirleir, V Valayannopoulos, ...
Human mutation 31 (7), E1564-E1573, 2010
1592010
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
JM van de Kamp, OT Betsalel, S Mercimek-Mahmutoglu, L Abulhoul, ...
Journal of medical genetics 50 (7), 463-472, 2013
1512013
Clinical features of lysosomal acid lipase deficiency
BK Burton, PB Deegan, GM Enns, O Guardamagna, S Horslen, ...
Journal of pediatric gastroenterology and nutrition 61 (6), 619-625, 2015
1462015
Clinical effect and safety profile of recombinant human lysosomal acid lipase in patients with cholesteryl ester storage disease
M Balwani, C Breen, GM Enns, PB Deegan, T Honzík, S Jones, JP Kane, ...
Hepatology 58 (3), 950-957, 2013
1462013
ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism
C Bellanné-Chantelot, C Saint-Martin, MJ Ribeiro, C Vaury, V Verkarre, ...
Journal of Medical Genetics 47 (11), 752-759, 2010
1432010
Congenital hyperinsulinism
JB Arnoux, P de Lonlay, MJ Ribeiro, K Hussain, O Blankenstein, ...
Early human development 86 (5), 287-294, 2010
1422010
En aquests moments el sistema no pot dur a terme l'operació. Torneu-ho a provar més tard.
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