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Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|
November 5, 1997
[Study of plasma acylcarnitines using tandem mass spectrometry. Application to the diagnosis of metabolism hereditary diseases]
F Delolme, C Vianey-Saban, N Guffon, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
February 20, 1998
Plasma free fatty acids in mitochondrial fatty acid oxidation defects
G Martínez, G Jiménez-Sánchez, P Divry, et al.
European Journal of Pediatrics
|
April 1, 1986
Prenatal diagnosis of hereditary tyrosinaemia type I by determination of fumarylacetoacetase in chorionic villus material
E A Kvittingen, P P Guibaud, P Divry, et al.
European Journal of Pediatrics
|
August 1, 1994
Stroke, hemiparesis and deficient mitochondrial beta-oxidation
L Vallée, M Fontaine, J P Nuyts, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1995
Infantile form of carnitine palmitoyltransferase II deficiency in a girl with rapid fatal onset
C Vianey-Saban, N Stremler, O Paut, et al.
European Journal of Pediatrics
|
April 1, 1993
Carnitine palmitoyl transferase I deficiency presenting as a Reye-like syndrome without hypoglycaemia
C Vianey-Saban, B Mousson, C Bertrand, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1996
The mutational spectrum in very long-chain acyl-CoA dehydrogenase deficiency
B S Andresen, C Vianey-Saban, P Bross, et al.
Archives of Biochemistry and Biophysics
|
October 24, 1998
Two missense point mutations in different alleles in the 3-hydroxy-3-methylglutaryl coenzyme A lyase gene produce 3-hydroxy-3-methylglutaric aciduria in a French patient
N Zapater, J Pié, J Lloberas, et al.
Pediatrie
|
January 1, 1992
[Beta-ketothiolase deficiency: a case of ketoacidosis with hyperglycinemia]
C Elleau, F Parrot-Roulaud, Y Perel, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1993
Reliable prenatal diagnosis of Canavan disease (aspartoacylase deficiency): comparison of enzymatic and metabolite analysis
M J Bennett, K M Gibson, W G Sherwood, et al.
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of 12
Search research articles
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Showing results (91-100 of 114) with videos related to
Sort By:
Page
of 12
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|
November 5, 1997
[Study of plasma acylcarnitines using tandem mass spectrometry. Application to the diagnosis of metabolism hereditary diseases]
F Delolme, C Vianey-Saban, N Guffon, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
February 20, 1998
Plasma free fatty acids in mitochondrial fatty acid oxidation defects
G Martínez, G Jiménez-Sánchez, P Divry, et al.
European Journal of Pediatrics
|
April 1, 1986
Prenatal diagnosis of hereditary tyrosinaemia type I by determination of fumarylacetoacetase in chorionic villus material
E A Kvittingen, P P Guibaud, P Divry, et al.
European Journal of Pediatrics
|
August 1, 1994
Stroke, hemiparesis and deficient mitochondrial beta-oxidation
L Vallée, M Fontaine, J P Nuyts, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1995
Infantile form of carnitine palmitoyltransferase II deficiency in a girl with rapid fatal onset
C Vianey-Saban, N Stremler, O Paut, et al.
European Journal of Pediatrics
|
April 1, 1993
Carnitine palmitoyl transferase I deficiency presenting as a Reye-like syndrome without hypoglycaemia
C Vianey-Saban, B Mousson, C Bertrand, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1996
The mutational spectrum in very long-chain acyl-CoA dehydrogenase deficiency
B S Andresen, C Vianey-Saban, P Bross, et al.
Archives of Biochemistry and Biophysics
|
October 24, 1998
Two missense point mutations in different alleles in the 3-hydroxy-3-methylglutaryl coenzyme A lyase gene produce 3-hydroxy-3-methylglutaric aciduria in a French patient
N Zapater, J Pié, J Lloberas, et al.
Pediatrie
|
January 1, 1992
[Beta-ketothiolase deficiency: a case of ketoacidosis with hyperglycinemia]
C Elleau, F Parrot-Roulaud, Y Perel, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1993
Reliable prenatal diagnosis of Canavan disease (aspartoacylase deficiency): comparison of enzymatic and metabolite analysis
M J Bennett, K M Gibson, W G Sherwood, et al.
Page
of 12