Zobrazeno 1 - 10
of 501
pro vyhledávání: '"J P, Farriaux"'
Autor:
R W James, B Martin, D Pometta, J C Fruchart, P Duriez, P Puchois, J P Farriaux, A Tacquet, T Demant, R J Clegg
Publikováno v:
Journal of Lipid Research, Vol 30, Iss 2, Pp 159-169 (1989)
This report describes the metabolism of apolipoprotein B-containing lipoproteins in seven familial hypercholesterolemic (FH) homozygotes and compares the results to the values obtained from five healthy control subjects. The concentration, compositio
Externí odkaz:
https://doaj.org/article/87dd8cd28b7649feb716dcfc82bd9a49
Autor:
B. Puech, O. Boute-Benejean, A. Desbonnet, J. P. Farriaux, B. Duquesnoy, F. Piette, Sylvie Manouvrier-Hanu
Publikováno v:
American Journal of Medical Genetics. 76:217-221
Blau syndrome (MK186580) comprises granulomatous arthritis, iritis, and skin rash, and is an autosomal-dominant trait with variable expressivity. So far it was described in 5 families. We report on a sixth family with severe progression of eye involv
Autor:
Sylvie Manouvrier, Stanislas Lyonnet, J P Farriaux, Marie Gonzales, A Raas-Rothschild, Arnold Munnich
Publikováno v:
Journal of Medical Genetics. 33:996-1001
Split hand-split foot malformation (SHFM) is a genetically heterogeneous limb developmental defect characterised by the absence of digital rays and syndactyly of the remaining digits. Three disease loci have recently been mapped to chromosomes 7q21 (
Autor:
J.-P. Farriaux, Wolfgang Pfleiderer, G. Forzy, J.-L. Dhondt, J.-M. Hayte, F. Mazingue, F. Millot
Publikováno v:
Pteridines, Vol 3, Iss 1-2, Pp 37-40 (1991)
Publikováno v:
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 12(6)
Autor:
M, Mbodj, O, Ndoye, M, Diarra, B N, Mbaye, H, Sow Toure, L, Diouf, S, Gassama Seck, J L, Dhondt, J P, Farriaux
Publikováno v:
Dakar medical. 48(3)
A neonatal screening allows a preclinical diagnosis of major sickle cell syndromes and an early management of the affected children. That would improve their life quality and expectancy. The preliminary program was set up on 518 senegalese newborn ag
Publikováno v:
Archives of Disease in Childhood - Fetal and Neonatal Edition. 73:F103-F105
Very long chain acyl-CoA dehydrogenase is a newly characterised enzyme in mitochondrial fatty acid oxidation. A girl who presented on the second day of life with a sudden and severe illness due to deficiency of this enzyme is reported. There is evide
Autor:
C, Grosskopf, J P, Farriaux, M, Vidailhet, M L, Briard, J, Navarro, D, Turck, G, Travert, V, Belot, J, Bloch, P, Roussel
Publikováno v:
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 10
France has decided to add to the national neonatal screening program (Phenylketonuria, Hypothyroidism, Congenital Adrenal Hyperplasia, Sickle cell disease) the screening of cystic fibrosis (CF). The screening of CF will be implemented in all regions
Publikováno v:
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 10
Autor:
J-P, Farriaux
Publikováno v:
Annales de biologie clinique. 61(4)