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Molecular Genetics and Metabolism
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April 7, 2009
Secondary creatine deficiency in ornithine delta-aminotransferase deficiency
V Valayannopoulos, N Boddaert, K Mention, et al.
Journal of Child Neurology
|
December 17, 2013
Acute psychosis in propionic acidemia: 2 case reports
C Dejean de la Bâtie, V Barbier, V Valayannopoulos, et al.
Molecular Genetics and Metabolism
|
December 21, 2007
Risk assessment of acute vascular events in congenital disorder of glycosylation type Ia
J B Arnoux, N Boddaert, V Valayannopoulos, et al.
Journal of Inherited Metabolic Disease
|
December 20, 2012
Treatment of acute decompensation of maple syrup urine disease in adult patients with a new parenteral amino-acid mixture
A Servais, J B Arnoux, C Lamy, et al.
Molecular Genetics and Metabolism
|
April 21, 2009
Long-term outcome in methylmalonic aciduria: a series of 30 French patients
M A Cosson, J F Benoist, G Touati, et al.
Journal of Inherited Metabolic Disease
|
March 12, 2009
Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B(12)
V Valayannopoulos, L Hubert, J F Benoist, et al.
Molecular Genetics and Metabolism
|
October 24, 2007
1H MRS spectroscopy evidence of cerebellar high lactate in mitochondrial respiratory chain deficiency
N Boddaert, S Romano, B Funalot, et al.
Journal of Medical Genetics
|
April 10, 2009
Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia)
S Romano, F Bajolle, V Valayannopoulos, et al.
Journal of Medical Genetics
|
August 6, 2010
ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism
C Bellanné-Chantelot, C Saint-Martin, M-J Ribeiro, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|
August 14, 2012
[Prenatal symptoms and diagnosis of inherited metabolic diseases]
A Brassier, C Ottolenghi, N Boddaert, et al.
Page
of 4
Search research articles
Search
Showing results (21-30 of 35) with videos related to
Sort By:
Page
of 4
Molecular Genetics and Metabolism
|
April 7, 2009
Secondary creatine deficiency in ornithine delta-aminotransferase deficiency
V Valayannopoulos, N Boddaert, K Mention, et al.
Journal of Child Neurology
|
December 17, 2013
Acute psychosis in propionic acidemia: 2 case reports
C Dejean de la Bâtie, V Barbier, V Valayannopoulos, et al.
Molecular Genetics and Metabolism
|
December 21, 2007
Risk assessment of acute vascular events in congenital disorder of glycosylation type Ia
J B Arnoux, N Boddaert, V Valayannopoulos, et al.
Journal of Inherited Metabolic Disease
|
December 20, 2012
Treatment of acute decompensation of maple syrup urine disease in adult patients with a new parenteral amino-acid mixture
A Servais, J B Arnoux, C Lamy, et al.
Molecular Genetics and Metabolism
|
April 21, 2009
Long-term outcome in methylmalonic aciduria: a series of 30 French patients
M A Cosson, J F Benoist, G Touati, et al.
Journal of Inherited Metabolic Disease
|
March 12, 2009
Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B(12)
V Valayannopoulos, L Hubert, J F Benoist, et al.
Molecular Genetics and Metabolism
|
October 24, 2007
1H MRS spectroscopy evidence of cerebellar high lactate in mitochondrial respiratory chain deficiency
N Boddaert, S Romano, B Funalot, et al.
Journal of Medical Genetics
|
April 10, 2009
Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia)
S Romano, F Bajolle, V Valayannopoulos, et al.
Journal of Medical Genetics
|
August 6, 2010
ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism
C Bellanné-Chantelot, C Saint-Martin, M-J Ribeiro, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|
August 14, 2012
[Prenatal symptoms and diagnosis of inherited metabolic diseases]
A Brassier, C Ottolenghi, N Boddaert, et al.
Page
of 4