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C Dorche

Showing results (31-40 of 48) with videos related to

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Journal of Inherited Metabolic Disease|January 1, 1991
5-Oxoprolinuria (glutathione synthetase deficiency): a case with neonatal presentation and rapid fatal outcomeP Divry, F Roulaud-Parrot, C Dorche, et al.
Pediatrie|January 1, 1974
[Offspring of mothers with phenylketonuria. Apropos of a sibship]A M Trouche, J M Gigonnet, C Dorche, et al.
European Journal of Pediatrics|February 1, 1988
Neonatal hyperphenylalaninaemia presumably caused by a new variant of biopterin synthetase deficiencyJ L Dhondt, P Guibaud, M O Rolland, et al.
European Journal of Pediatrics|January 1, 1991
Infantile isolated sulphite oxidase deficiency: report of a case with negative sulphite test and normal sulphate excretionJ M van der Klei-van Moorsel, L M Smit, M Brockstedt, et al.
La Nouvelle Presse Medicale|March 10, 1979
[Neonatal detection of congenital hypothyroidism by TSH determination in dried blood stain. 2 years of experience]M David, C Dorche, M O Rolland, et al.
American Journal of Medical Genetics|January 24, 1998
Spherophakia associated with molybdenum cofactor deficiencyR Parini, V Briscioli, U Caruso, et al.
Nature Genetics|September 10, 1998
Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiencyJ Reiss, N Cohen, C Dorche, et al.
Pediatrie|January 1, 1974
[Indications and results of diet treatment of hyperphenylalaninemia detected at birth. Apropos of 25 cases]M Jeune, L Cret, M David, et al.
Journal of Inherited Metabolic Disease|February 22, 2000
Dietary therapy in two patients with a mild form of sulphite oxidase deficiency. Evidence for clinical and biological improvementG Touati, E Rusthoven, E Depondt, et al.
Journal of Inherited Metabolic Disease|January 1, 1996
Combined deficiency of xanthine oxidase and sulphite oxidase due to a deficiency of molybdenum cofactorE Bonioli, A DiStefano, A Palmieri, et al.
Pageof 5

Showing results (31-40 of 48) with videos related to

Sort By:
Pageof 5
Journal of Inherited Metabolic Disease|January 1, 1991
5-Oxoprolinuria (glutathione synthetase deficiency): a case with neonatal presentation and rapid fatal outcomeP Divry, F Roulaud-Parrot, C Dorche, et al.
Pediatrie|January 1, 1974
[Offspring of mothers with phenylketonuria. Apropos of a sibship]A M Trouche, J M Gigonnet, C Dorche, et al.
European Journal of Pediatrics|February 1, 1988
Neonatal hyperphenylalaninaemia presumably caused by a new variant of biopterin synthetase deficiencyJ L Dhondt, P Guibaud, M O Rolland, et al.
European Journal of Pediatrics|January 1, 1991
Infantile isolated sulphite oxidase deficiency: report of a case with negative sulphite test and normal sulphate excretionJ M van der Klei-van Moorsel, L M Smit, M Brockstedt, et al.
La Nouvelle Presse Medicale|March 10, 1979
[Neonatal detection of congenital hypothyroidism by TSH determination in dried blood stain. 2 years of experience]M David, C Dorche, M O Rolland, et al.
American Journal of Medical Genetics|January 24, 1998
Spherophakia associated with molybdenum cofactor deficiencyR Parini, V Briscioli, U Caruso, et al.
Nature Genetics|September 10, 1998
Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiencyJ Reiss, N Cohen, C Dorche, et al.
Pediatrie|January 1, 1974
[Indications and results of diet treatment of hyperphenylalaninemia detected at birth. Apropos of 25 cases]M Jeune, L Cret, M David, et al.
Journal of Inherited Metabolic Disease|February 22, 2000
Dietary therapy in two patients with a mild form of sulphite oxidase deficiency. Evidence for clinical and biological improvementG Touati, E Rusthoven, E Depondt, et al.
Journal of Inherited Metabolic Disease|January 1, 1996
Combined deficiency of xanthine oxidase and sulphite oxidase due to a deficiency of molybdenum cofactorE Bonioli, A DiStefano, A Palmieri, et al.
Pageof 5