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Journal of Inherited Metabolic Disease
|
January 1, 1978
Mannosidosis: tissue culture studies in relation to prenatal diagnosis
I Maire, M T Zabot, M Mathieu, et al.
Human Mutation
|
January 1, 1996
IDS gene-pseudogene exchange responsible for an intragenic deletion in a Hunter patient
A M Birot, O Bouton, R Froissart, et al.
The EMBO Journal
|
January 1, 1983
Variant of GM2-gangliosidosis with hexosaminidase A having a severely changed substrate specificity
H J Kytzia, U Hinrichs, I Maire, et al.
Pediatrie
|
January 1, 1986
[Hypoglycemia and hyperlactacidemia in relation with a new case of fructose-1,6-diphosphatase deficiency. Determination of enzymatic activity in leukocytes]
I Rayet, G Teyssier, F Berlioux, et al.
Annales De Biologie Clinique
|
June 26, 2004
[Application of tandem mass spectrometry to neonatal screening of inherited metabolic diseases: focus on present developments]
D Cheillan, S Cognat, C Vianey-Saban, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1980
Beta-glucuronidase deficiency: enzyme studies in an affected family and prenatal diagnosis
I Maire, G Mandon, M T Zabot, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
June 29, 2000
Orphan drugs and orphan diseases. Round table proceedings, 3rd European Pediatric Neurology Society Congress. Nice, November 1999
J Campos-Castelló, G Ponsot, F Feillet, et al.
Journal De Genetique Humaine
|
June 1, 1983
[Case of mucolipidosis type I with a primary alpha-D-neuraminidase deficiency]
J J Louis, I Maire, M Hermier, et al.
Biology of the Neonate
|
January 1, 1987
Ketogenesis in hypoglycemic neonates. Carnitine and dicarboxylic acids in neonatal hypoglycemia
L Sann, P Divry, B Cartier, et al.
Acta Paediatrica (Oslo, Norway : 1992). Supplement
|
February 8, 2003
Mucopolysaccharidosis type II--genotype/phenotype aspects
R Froissart, I Moreira da Silva, N Guffon, et al.
Page
of 13
Search research articles
Search
Showing results (41-50 of 121) with videos related to
Sort By:
Page
of 13
Journal of Inherited Metabolic Disease
|
January 1, 1978
Mannosidosis: tissue culture studies in relation to prenatal diagnosis
I Maire, M T Zabot, M Mathieu, et al.
Human Mutation
|
January 1, 1996
IDS gene-pseudogene exchange responsible for an intragenic deletion in a Hunter patient
A M Birot, O Bouton, R Froissart, et al.
The EMBO Journal
|
January 1, 1983
Variant of GM2-gangliosidosis with hexosaminidase A having a severely changed substrate specificity
H J Kytzia, U Hinrichs, I Maire, et al.
Pediatrie
|
January 1, 1986
[Hypoglycemia and hyperlactacidemia in relation with a new case of fructose-1,6-diphosphatase deficiency. Determination of enzymatic activity in leukocytes]
I Rayet, G Teyssier, F Berlioux, et al.
Annales De Biologie Clinique
|
June 26, 2004
[Application of tandem mass spectrometry to neonatal screening of inherited metabolic diseases: focus on present developments]
D Cheillan, S Cognat, C Vianey-Saban, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1980
Beta-glucuronidase deficiency: enzyme studies in an affected family and prenatal diagnosis
I Maire, G Mandon, M T Zabot, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
June 29, 2000
Orphan drugs and orphan diseases. Round table proceedings, 3rd European Pediatric Neurology Society Congress. Nice, November 1999
J Campos-Castelló, G Ponsot, F Feillet, et al.
Journal De Genetique Humaine
|
June 1, 1983
[Case of mucolipidosis type I with a primary alpha-D-neuraminidase deficiency]
J J Louis, I Maire, M Hermier, et al.
Biology of the Neonate
|
January 1, 1987
Ketogenesis in hypoglycemic neonates. Carnitine and dicarboxylic acids in neonatal hypoglycemia
L Sann, P Divry, B Cartier, et al.
Acta Paediatrica (Oslo, Norway : 1992). Supplement
|
February 8, 2003
Mucopolysaccharidosis type II--genotype/phenotype aspects
R Froissart, I Moreira da Silva, N Guffon, et al.
Page
of 13