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A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity.
Published in:
2016
By:
- Sabry, S.;
- Vuillaumier-Barrot, S.;
- Mintet, E.;
- Fasseu, M.;
- Valayannopoulos, V.;
- Héron, D.;
- Dorison, N.;
- Mignot, C.;
- Seta, N.;
- Chantret, I.;
- Dupré, T.;
- Moore, S. E. H.
Publication type:
journal article
Mucopolysaccharidosis VI.
Published in:
2010
By:
- Valayannopoulos V;
- Nicely H;
- Harmatz P;
- Turbeville S;
- Valayannopoulos, Vassili;
- Nicely, Helen;
- Harmatz, Paul;
- Turbeville, Sean
Publication type:
journal article
Neurological aspects of hyperinsulinism-hyperammonaemia syndrome.
Published in:
2008
By:
- Bahi-Buisson N;
- Roze E;
- Dionisi C;
- Escande F;
- Valayannopoulos V;
- Feillet F;
- Heinrichs C
Publication type:
Journal Article
Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4.
Published in:
2012
By:
- Valayannopoulos V;
- Michot C;
- Rodriguez D;
- Hubert L;
- Saillour Y;
- Labrune P;
- de Laveaucoupet J;
- Brunelle F;
- Amiel J;
- Lyonnet S;
- Enza-Razavi F;
- Attié-Bitach T;
- Lacombe D;
- Bahi-Buisson N;
- Desguerre I;
- Chelly J;
- Burglen L;
- Boddaert N;
- de Lonlay P
Publication type:
Journal Article
Treatment of acute decompensation of maple syrup urine disease in adult patients with a new parenteral amino-acid mixture.
Published in:
Journal of Inherited Metabolic Disease, 2013, v. 36, n. 6, p. 939, doi. 10.1007/s10545-012-9570-2
By:
- Servais, A.;
- Arnoux, J.;
- Lamy, C.;
- Hummel, A.;
- Vittoz, N.;
- Katerinis, I.;
- Bazzaoui, V.;
- Dubois, S.;
- Broissand, C.;
- Husson, M.;
- Berleur, M.;
- Rabier, D.;
- Ottolenghi, C.;
- Valayannopoulos, V.;
- Lonlay, P.
Publication type:
Article
Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B<sub>12</sub>.
Published in:
Journal of Inherited Metabolic Disease, 2009, v. 32, n. 2, p. 159, doi. 10.1007/s10545-009-1023-1
By:
- Valayannopoulos, V.;
- Hubert, L.;
- Benoist, J.;
- Romano, S.;
- Arnoux, J.;
- Chrétien, D.;
- Kaplan, J.;
- Fakhouri, F.;
- Rabier, D.;
- Rötig, A.;
- Lebre, A.;
- Munnich, A.;
- Keyzer, Y.;
- Lonlay, P.
Publication type:
Article
Acute Psychosis in Propionic Acidemia: 2 Case Reports.
Published in:
2014
By:
- Bâtie, C. Dejean de la;
- Barbier, V.;
- Valayannopoulos, V.;
- Touati, G.;
- Maltret, A.;
- Brassier, A.;
- Arnoux, J. B.;
- Grévent, D.;
- Chadefaux, B.;
- Ottolenghi, C.;
- Canouï, P.;
- Lonlay, P. de
Publication type:
Case Study
Predictive value of postoperative glycosuria after partial elective pancreatectomy in focal congenital hyperinsulinsim.
Published in:
2008
By:
- Khen-Dunlop N;
- Capito C;
- Valayannopoulos V;
- Elie C;
- Ribeiro M;
- Rahier J;
- Jaubert F;
- Robert J;
- Aigrain Y;
- de Lonlay P;
- Fékété CN
Publication type:
Journal Article

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