V. Abadie

Publication List Details

Period

1993 - 2001

Number

11

Co-Authors

IIlegitimate transcription of the phenylalanine hydroxylase gene in lymphocytes for identification of mutations in phenylketonuria (1993)

Abadie, V., Jaruzelska, J., Lyonnet, S., Millasseau, P., Berthelon, M., Rey, F., ...

Taking advantage of the ‘illegitimate’ transcription of the phenylalanine hydroxylase (PAH) gene, we have been able to analyse the PAH cDNA sequence of hyperphenylalaninemic children in...

Cerebrospinal fluid penetration of amikacin in children with community-acquired bacterial meningitis.

Gaillard, J L, Silly, C, Le Masne, A, Mahut, B, Lacaille, F, Cheron, G, ...

The penetration of amikacin into the cerebrospinal fluid (CSF) was studied with 16 children (mean age, 1 year and 9 months; range, 4 months to 8 years) with community-acquired bacterial meningitis....

Concentrations of ceftriaxone in cerebrospinal fluid of children with meningitis receiving dexamethasone therapy.

Gaillard, J L, Abadie, V, Cheron, G, Lacaille, F, Mahut, B, Silly, C, ...

The penetration of ceftriaxone into cerebrospinal fluid (CSF) was studied with 11 children (mean age: 2 years, 4 months; range: 4 months to 8 years) with meningitis, receiving dexamethasone (0.15...

The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21).

Saugier-Veber, P, Abadie, V, Moncla, A, Mathieu, M, Piussan, C, Turleau, C, ...

Juberg-Marsidi syndrome (McKusick 309590) is a rare X-linked recessive condition characterized by severe mental retardation, growth failure, sensorineural deafness, and microgenitalism. Here we...

Cerebrospinal fluid penetration of amikacin in children with community-acquired bacterial meningitis.

Gaillard, J L, Silly, C, Le Masne, A, Mahut, B, Lacaille, F, Cheron, G, ...

The penetration of amikacin into the cerebrospinal fluid (CSF) was studied with 16 children (mean age, 1 year and 9 months; range, 4 months to 8 years) with community-acquired bacterial meningitis....

Concentrations of ceftriaxone in cerebrospinal fluid of children with meningitis receiving dexamethasone therapy.

Gaillard, J L, Abadie, V, Cheron, G, Lacaille, F, Mahut, B, Silly, C, ...

The penetration of ceftriaxone into cerebrospinal fluid (CSF) was studied with 11 children (mean age: 2 years, 4 months; range: 4 months to 8 years) with meningitis, receiving dexamethasone (0.15...

The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21).

Saugier-Veber, P, Abadie, V, Moncla, A, Mathieu, M, Piussan, C, Turleau, C, ...

Juberg-Marsidi syndrome (McKusick 309590) is a rare X-linked recessive condition characterized by severe mental retardation, growth failure, sensorineural deafness, and microgenitalism. Here we...

Features of DiGeorge syndrome and CHARGE association in five patients.

Cormier-Daire, V, Amiel, J, Abadie, V, Odent, S, Paupe, A, ...

We report on five patients presenting with features of two congenital disorders, DiGeorge syndrome (DGS) and CHARGE association. CHARGE association is usually sporadic and its origin is as yet...

Inexplicable infantile cataracts and partial maternal galactose disorder

Brivet, M, Abadie, V, Soni, T, Cheron, G, Dufier, J L

Previous reports have suggested that partial maternal deficiency of galactose metabolising enzymes, particularly of galactokinase activity, could contribute to the formation of cataracts during...