Zobrazeno 1 - 10
of 185
pro vyhledávání: '"J.L. DHONDT"'
Autor:
C. Houlbert, J.L. Dhondt, Z. Berkane, F Flourié, J M Giannoli, P. Surgat, membres du sous-groupe pré-analytique, A. Szymanowicz, I. Drouillard
Publikováno v:
Annales de biologie clinique. 68:131-145
The main nonconformities enumerated to facilitate consensual codification. In each case, an action is defined: refusal to realize the examination with request of a new sample, request of information or correction, results cancellation, nurse or physi
Autor:
F Galactéros, J Bardakdjian-Michau, J.L Dhondt, J.P Farriaux, E Paux, D Ducrocq, J Elion, J Feingold, R Girot, M Maier-Redolsperger, D Lena Russo, F Giraud, M.L North, M.L Briard, J Rey
Publikováno v:
Archives de Pédiatrie. 3:1026-1031
Resume Un programme experimental de detection neonatale de la drepanocytose a ete initie en France metropolitaire en 1990. Apres les depistages mis en place en Guadeloupe et Martinique et differentes experiences regionales, sa strategie a ete affinee
Autor:
J.P. Farriaux, J.L. Dhondt
Publikováno v:
Screening. 3:33-38
Publikováno v:
Screening. 2:87-97
The principle of pilot or evaluative studies has been adopted by the French Association for Neonatal Screening to investigate all the components of a new screening action before it is proposed as an addition to the ongoing program. Such studies have
Autor:
J.L. Dhondt, E. Paux
Publikováno v:
Screening. 2:141-147
We have evaluated the Quantase™ Phenylalanine Kit for the determination of phenylalanine in dried blood samples taken in the neonatal period for phenylketonuria (PKU) screening. The assay is linear to blood phenylalanine concentrations of at least
Publikováno v:
Screening. 2:77-85
The French Association for Neonatal Screening was created in 1975 in response to the need for an organization to coordinate neonatal screening activities in France. The program of ‘systematic’ neonatal screening has been voluntarily limited to th
Autor:
Hajer Siala, Hatem Azzouz, Neji Tebib, J.L. Dhondt, Sameh Khemir, Taieb Messaoud, Sonia Abdelhak, M.F. Ben Dridi, Neziha Kaabachi
Publikováno v:
Pathologie-biologie. 60(6)
Phenylketonuria (PKU) is an autosomal recessive metabolic disorder caused by a deficiency of phenylalanine hydroxylase. To date, more than 530 mutations in the PAH gene have been reported. In Tunisia, this disease seems to be the result of point muta
Publikováno v:
Archives de Pédiatrie. 6:759-761
Resume Les formes symptomatiques d'hyperphenylalaninemie sont devenues rares en France depuis l'instauration du depistage neonatal systematique. Observation Un enfant ne en Algerie de parents consanguins a ete vu a l'âge de 2 ans pour le bilan d'une