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P de Lonlay

Showing results (91-100 of 131) with videos related to

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Molecular Genetics and Metabolism|August 5, 2008
Liver hepatoblastoma and multiple OXPHOS deficiency in the follow-up of a patient with methylmalonic aciduriaM A Cosson, G Touati, F Lacaille, et al.
JIMD Reports|February 23, 2013
Kinetic analyses guide the therapeutic decision in a novel form of moderate aromatic Acid decarboxylase deficiencyM Barth, V Serre, L Hubert, et al.
Journal of Inherited Metabolic Disease|July 17, 1999
Recognition and management of fatty acid oxidation defects: a series of 107 patientsJ M Saudubray, D Martin, P de Lonlay, et al.
Journal of Inherited Metabolic Disease|June 23, 2000
Genetic hypoglycaemia in infancy and childhood: pathophysiology and diagnosisJ M Saudubray, P de Lonlay, G Touati, et al.
The New England Journal of Medicine|April 15, 1999
Clinical features of 52 neonates with hyperinsulinismP de Lonlay-Debeney, F Poggi-Travert, J C Fournet, et al.
Molecular Genetics and Metabolism Reports|June 27, 2017
Pyruvate carboxylase deficiency: An underestimated cause of lactic acidosisF Habarou, A Brassier, M Rio, et al.
The American Journal of Pathology|June 8, 2001
Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11J C Fournet, C Mayaud, P de Lonlay, et al.
Journal of Inherited Metabolic Disease|July 17, 1999
D-2-hydroxyglutaric aciduria: further clinical delineationM S van der Knaap, C Jakobs, G F Hoffmann, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|January 14, 1999
[Persistent hyperinsulinemic hypoglycemia in the newborn and infants]P de Lonlay-Debeney, J C Fournet, D Martin, 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.
Pageof 14

Showing results (91-100 of 131) with videos related to

Sort By:
Pageof 14
Molecular Genetics and Metabolism|August 5, 2008
Liver hepatoblastoma and multiple OXPHOS deficiency in the follow-up of a patient with methylmalonic aciduriaM A Cosson, G Touati, F Lacaille, et al.
JIMD Reports|February 23, 2013
Kinetic analyses guide the therapeutic decision in a novel form of moderate aromatic Acid decarboxylase deficiencyM Barth, V Serre, L Hubert, et al.
Journal of Inherited Metabolic Disease|July 17, 1999
Recognition and management of fatty acid oxidation defects: a series of 107 patientsJ M Saudubray, D Martin, P de Lonlay, et al.
Journal of Inherited Metabolic Disease|June 23, 2000
Genetic hypoglycaemia in infancy and childhood: pathophysiology and diagnosisJ M Saudubray, P de Lonlay, G Touati, et al.
The New England Journal of Medicine|April 15, 1999
Clinical features of 52 neonates with hyperinsulinismP de Lonlay-Debeney, F Poggi-Travert, J C Fournet, et al.
Molecular Genetics and Metabolism Reports|June 27, 2017
Pyruvate carboxylase deficiency: An underestimated cause of lactic acidosisF Habarou, A Brassier, M Rio, et al.
The American Journal of Pathology|June 8, 2001
Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11J C Fournet, C Mayaud, P de Lonlay, et al.
Journal of Inherited Metabolic Disease|July 17, 1999
D-2-hydroxyglutaric aciduria: further clinical delineationM S van der Knaap, C Jakobs, G F Hoffmann, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|January 14, 1999
[Persistent hyperinsulinemic hypoglycemia in the newborn and infants]P de Lonlay-Debeney, J C Fournet, D Martin, 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.
Pageof 14