Zobrazeno 1 - 10
of 109
pro vyhledávání: '"Pierre Kamoun"'
Publikováno v:
Scandinavian Journal of Haematology. 16:266-270
Human blood platelets were separated into 4 populations by centrifugation on a sucrose gradient. Serotonin uptake expressed against cell protein content is the greater as platelets become lighter. The relation between these facts and ATP content in t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b68f16f5c3e49f7d3541f627c4a17bf
https://doi.org/10.1111/j.1600-0609.1976.tb01149.x
https://doi.org/10.1111/j.1600-0609.1976.tb01149.x
Autor:
Jean-Marie Saudubray, Daniel Rabier, David Valle, M.C. Nassogne, Jean Paul Padovani, Pierre Kamoun, Jean Louis Dufier, Matthias R. Baumgartner
Publikováno v:
European Journal of Pediatrics. 164:31-36
Delta1-pyrroline-5-carboxylate synthase (P5CS) catalyses the reduction of glutamate to Delta1-pyrroline-5-carboxylate, a critical step in the biosynthesis of proline, ornithine and arginine. Recently, we reported a newly recognised inborn error due t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e24561242d8b4d5fd3b0c6fafcf502bf
https://doi.org/10.1007/s00431-004-1545-3
https://doi.org/10.1007/s00431-004-1545-3
Autor:
Pierre Kamoun
Publikováno v:
médecine/sciences. 20:697-700
Le sulfure d’hydrogene (H2S) est produit dans de nombreux tissus, et notamment dans le cerveau, ou il joue un role de neuromodulateur. H2S augmente ainsi les reponses mises en jeu par les recepteurs NMDA et facilite l’induction d’une potentiali
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2cdbb69fc6158d1422ffbd55c74a32f0
https://doi.org/10.1051/medsci/2004206-7697
https://doi.org/10.1051/medsci/2004206-7697
Autor:
B Simorre, J. M. Saudubray, Jean-François Chassé, C. Janbon, G. Berrut, Pierre Kamoun, H. Bellet, Isabelle Quéré, C Le Hello
Publikováno v:
La Revue de Médecine Interne. 23:267-272
Resume Propos. – Les complications vasculaires arterielles ou veineuses sont classiques chez les patients homocystinuriques. Leur incidence reelle, notamment en France, est mal connue du fait de la rarete de lˈanomalie. Methodes. – Nous rapporto
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b84210b5c6753d97d590497449d2072c
https://doi.org/10.1016/s0248-8663(01)00551-3
https://doi.org/10.1016/s0248-8663(01)00551-3
Publikováno v:
Journal of Inherited Metabolic Disease. 25:1-6
Defects of lysine metabolism are rare, but hyperlysinemia is a concomitant of many inborn errors of metabolism, including urea cycle abnormalities, pyruvate carboxylase deficiency and L-2-hydroxyglutaric aciduria. We have hypothesized that mitochondr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd6116f4937751a381714dd4e8f094df
https://doi.org/10.1023/a:1015195009330
https://doi.org/10.1023/a:1015195009330
Autor:
Pierre Kamoun
Publikováno v:
Medical Hypotheses. 57:389-392
Mental retardation is progressive in Down syndrome: individuals are born with normal intelligence which starts to decline linearly within the first year. This phenomenon can be observed with phenylalanine in patients with phenylketonuria, therefore i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95067909ead802204a9fd390b15bb69e
https://doi.org/10.1054/mehy.2001.1377
https://doi.org/10.1054/mehy.2001.1377
Autor:
Carina Prip-Buus, Laure Thuillier, Nourredine Abadi, Chitra Prasad, Louise Dilling, Juliet Klasing, France Demaugre, Cheryl R. Greenberg, James C. Haworth, Véronique Droin, Noman Kadhom, Stéphanie Gobin, Pierre Kamoun, Jean Girard, Jean-Paul Bonnefont
Publikováno v:
Molecular Genetics and Metabolism. 73:46-54
Hepatic carnitine palmitoyltransferase 1 (CPT1A) deficiency is a rare disorder of mitochondrial fatty acid oxidation inherited as an autosomal recessive trait. Symptomatology comprises attacks of hypoketotic hypoglycemia with risk of sudden death or
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e520e78d64ebc75c1148a68621e4510b
https://doi.org/10.1006/mgme.2001.3176
https://doi.org/10.1006/mgme.2001.3176
Autor:
P. de Lonlay, A. Slama, Christine Vianey-Saban, Jean-Paul Bonnefont, Damien Bonnet, Guy Touati, J. M. Saudubray, Daniel Rabier, Pierre Kamoun, F. Poggi-Travert, M. Boutron, Michèle Brivet, Philippe Jouvet, D. Martin
Publikováno v:
Journal of Inherited Metabolic Disease. 22:487-502
In a personal series of 107 patients, we describe clinical presentations, methods of recognition and therapeutic management of inherited fatty acid oxidation (FAO) defects. As a whole, FAO disorders appear very severe: among the 107 patients, only 57
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::696692ac89dc28ba34efc3e81ac1adfd
https://doi.org/10.1023/a:1005556207210
https://doi.org/10.1023/a:1005556207210
Autor:
Gianfranco Sebastio, Vivian E. Shih, Henk J. Blom, Godfried H.J. Boers, Maria Pia Sperandeo, Jan P. Kraus, Miroslav Janosik, Pierre Kamoun, Mette Gaustadnes, Ross B. Gordon, Leo A. J. Kluijtmans, Generoso Andria, Raffaella de Franchis, Roseann Mandell, Hans G. Koch, Toshihiro Ohura, Warren D. Kruger, Viktor Kožich, Michael Y. Tsai
Publikováno v:
Human Mutation. 13:362-375
The major cause of homocystinuria is mutation of the gene encoding the enzyme cystathionine beta-synthase (CBS). Deficiency of CBS activity results in elevated levels of homocysteine as well as methionine in plasma and urine and decreased levels of c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::77a071755e59e011a6fd8bcfae61d348
https://doi.org/10.1002/(sici)1098-1004(1999)13:5<362::aid-humu4>3.0.co
https://doi.org/10.1002/(sici)1098-1004(1999)13:5<362::aid-humu4>3.0.co
Autor:
Christelle Rouillac, Jacques Demaille, C. Janbon, Jacqueline London, Isabelle Quéré, Véronique Paul, Pierre Kamoun, Marc Abitbol, Jean-Louis Dufier, Jean-François Chassé
Publikováno v:
Biochemical and Biophysical Research Communications. 254:127-137
We report the cystathionine-β synthase (CBS) gene expression pattern during early human embryogenesis (3 to 6 weeks post conception) by in situ hybridization and in fetal and adult tissue by Northern Blot analysis. Probes were chosen to recognize ei
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c3a70b430e5f31e500dd85bf5c83096
https://doi.org/10.1006/bbrc.1998.9079
https://doi.org/10.1006/bbrc.1998.9079