Zobrazeno 1 - 10
of 82
pro vyhledávání: '"Jean Louis Dhondt"'
Autor:
Monia Allal El Asmi, Riadh Jemaa, Jean Louis Dhondt, Moncef Feki, Haifa Sanhaji, Marie Françoise Ben Dridi, Sameh Khemir, Naziha Kaabachi, Neji Tebib, Abderraouf Mebazaa
Publikováno v:
Clinical Neurology and Neurosurgery. 113:727-730
Background and objective Accumulation of phenylalanine following a deficiency of phenylalanine hydroxylase activity generates a brain damage with mental retardation: phenylketonuria (PKU). In the developing countries, where PKU systematic neonatal sc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23d96a240e5ccf0a52b4525ab29b09e5
https://doi.org/10.1016/j.clineuro.2011.07.016
https://doi.org/10.1016/j.clineuro.2011.07.016
Autor:
Jean-Louis Dhondt
Publikováno v:
Journal of Inherited Metabolic Disease. 33:211-217
Newborn screening and genetic testing have expanded rapidly in the last decade with the advent of multiplex (e.g., tandem mass spectrometry) and/or DNA technologies. However, screening panels include a large number of disorders, which may not meet al
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6001ba12467230c32f0c7803c6b70317
https://doi.org/10.1007/s10545-010-9138-y
https://doi.org/10.1007/s10545-010-9138-y
Autor:
Jean-Louis Dhondt
Publikováno v:
Journal of Inherited Metabolic Disease. 33:219-223
In addition to being hyperphenylalaninemic, patients lacking tetrahydrobiopterin (BH4) are deficient in the neurotransmitters whose synthesis depends on the normal activity of tetrahydrobiopterin-dependent tyrosine and tryptophan hydroxylases. Conseq
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90f1b06b562a0f26bbcdffc6e8945009
https://doi.org/10.1007/s10545-010-9091-9
https://doi.org/10.1007/s10545-010-9091-9
Publikováno v:
Revue Francophone des Laboratoires. 2007:67-72
Resume Le depistage de la mucoviscidose en periode neonatale a d\e'bute il y a plus de 40 ans. Apres la possibilite d'un test de depistage par recherche de l'albumine meconiale, le dosage de la trypsine immunoreactive san- guine sur papier buvard cou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d8dcf771661d6df187954d6bca8bf645
https://doi.org/10.1016/s1773-035x(07)80422-9
https://doi.org/10.1016/s1773-035x(07)80422-9
Autor:
Jean-Louis Dhondt
Publikováno v:
EMC - Biologie Médicale. 1:1-6
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f1219ccc1ea97bf007ef27454ed29c2a
https://doi.org/10.1016/s2211-9698(06)76031-9
https://doi.org/10.1016/s2211-9698(06)76031-9
Autor:
Jean-Louis Dhondt
Publikováno v:
EMC - Biologie Médicale. 1:1-6
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d60a4300fd10c46d4eba2f940b706b47
https://doi.org/10.1016/s2211-9698(06)76103-9
https://doi.org/10.1016/s2211-9698(06)76103-9
Autor:
Naziha Kaabachi, Marie-Françoise Vincent, A. Larnaout, Fayçal Hentati, Najoua Miladi, Jean-Louis Dhondt
Publikováno v:
Journal of Child Neurology. 13:475-480
We report the case of a large consanguineous Tunisian family of seven siblings suffering from dihydropteridine reductase deficiency with either typical clinical, biochemical, or autopsy findings. Two cousins also were reported to have the same sympto
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffbd8a8697041d2d36dc0548b487369a
https://doi.org/10.1177/088307389801301002
https://doi.org/10.1177/088307389801301002
Autor:
François Guilhot, Francoise Mechinaud, Jean-Louis Dhondt, Pierre Ingrand, Frédéric Millot, Françoise Mazingue
Publikováno v:
Pediatric Research. 37:151-154
Acute or subacute neurologic disorders can be observed in patients receiving high-dose methotrexate therapy for lymphoblastic leukemia or malignant tumor. Impairment of biopterin metabolism leading to decreased availability of monoamine neurotransmit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bac940f0f2b2af5561f09401e6618d5f
https://doi.org/10.1203/00006450-199502000-00004
https://doi.org/10.1203/00006450-199502000-00004
Autor:
Frédéric Millot, Françoise Mazingue, Jean-Marie Hayte, Jean-Louis Dhondt, Jean-Pierre Farriaux
Publikováno v:
Clinica Chimica Acta. 220:189-200
Concentrations of 2,4-diamino-7-hydroxy-pteridines in plasma and cerebrospinal fluid (CSF) are reported for the 0.5-8 g/m2 dose range of methotrexate in children with acute lymphoblastic leukemia or non-Hodgkin's lymphoma. This experiment has reveale
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3dd88ddec20b66733639e33135ccfe9a
https://doi.org/10.1016/0009-8981(93)90047-8
https://doi.org/10.1016/0009-8981(93)90047-8