Zobrazeno 1 - 10
of 411
pro vyhledávání: '"I. Maire"'
Publikováno v:
La Revue de Médecine Interne. 31:S270-S274
Globotriaosylceramide (Gb(3)) has been measured in urine of 35 male hemizygotes and 66 female heterozygotes for Fabry disease (FD). In males, Gb(3) measurement allows to confirm the diagnosis which is based on deficient α-galactosidase A (α-Gal A)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::60787ff8ac9bd9131f740409749ed973
https://doi.org/10.1016/s0248-8663(10)70026-6
https://doi.org/10.1016/s0248-8663(10)70026-6
Publikováno v:
La Revue de Médecine Interne. 31:S275-S278
Fabry's disease is an X-linked disorder due to mutations in the GLA gene encoding the lysosomal enzyme alpha-galactosidase A. Clinically, most patients present with the "classical" form, though "variant" forms with inaugural or preminent heart or kid
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0c85e8d9db6628123a846182f1d86627
https://doi.org/10.1016/s0248-8663(10)70027-8
https://doi.org/10.1016/s0248-8663(10)70027-8
Autor:
Z. Jaidane, A. Miled, I. Maire, Roseline Froissart, Latifa Chkioua, H. Chahed, S. Wesleti, S. Khedhiri, Sandrine Laradi, S. Ferchichi
Publikováno v:
Immuno-analyse & Biologie Spécialisée. 25:38-42
Summary Hurler's syndrome or mucopolysaccharidosis type IH (MPS IH) is the most severe form of mucopolysaccharidosis type I (MPS I). It is caused by the deficiency of the alpha- l -iduronidase (IDUA) activity. The accumulation of undegraded MPS affec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9c66d3544039c158de8d50030b920e7a
https://doi.org/10.1016/j.immbio.2009.10.002
https://doi.org/10.1016/j.immbio.2009.10.002
Autor:
R. Dumoulin, B. Mousson, Monique Mathieu, F. Flocard, Mohamed Fouad Bouzidi, S. Quard, J. M. Collombet, Catherine Godinot, H. Carrier, I. Maire
Publikováno v:
Acta Neurologica Scandinavica. 91:488-493
A 29-year-old man with a progressive exertional muscle intolerance since childhood was referred for incremental exercise test on a bicycle ergometer. The response pattern suggested a mitochondrial myopathy: that is, a greatly reduced maximum oxygen c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::063c240e50ad18c6946170a21c36d109
https://doi.org/10.1111/j.1600-0404.1995.tb00451.x
https://doi.org/10.1111/j.1600-0404.1995.tb00451.x
Autor:
Latifa Chkioua, Roseline Froissart, I. Maire, S. Ferchichi, S. Ben Khelifa, V. Bonnet, Sandrine Laradi, A. Dandana, K Monastiri, A. Miled, Z. Jaidane
Publikováno v:
Pathologie Biologie. 56:88-93
Gaucher disease is one of the most prevalent lysosomal disorders. In this present study, we report a diagnostic strategy of type 1 Gaucher disease. The application of combined methods in molecular biology allowed us to analyse the p.Asn 370 Ser mutat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a2cd76511ea9f4c56deb9a6928da9aec
https://doi.org/10.1016/j.patbio.2007.09.029
https://doi.org/10.1016/j.patbio.2007.09.029
Autor:
C. Dupont, N. Guffon-Fouilhoux, M. Guillot, S. Harchaoui, I. Maire, V. Ribault, R. Froissart, M. Amiour, C. El Hachem
Publikováno v:
Archives de Pédiatrie. 15:45-49
Resume La mucopolysaccharidose de type I (MPS I) est une maladie de surcharge lysosomiale due a un deficit en α-L-iduronidase, dont le pronostic a ete ameliore par l’enzymotherapie substitutive (ETS) par α-L-iduronidase recombinante humaine (laro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::68bbb2c9e44a31c5e01024a559d6842d
https://doi.org/10.1016/j.arcped.2007.08.026
https://doi.org/10.1016/j.arcped.2007.08.026
Publikováno v:
La Revue de Médecine Interne. 28:187-192
Resume La maladie de Gaucher est due a un deficit en glucocerebrosidase qui conduit a l’accumulation de glucosylceramide non degrade dans les lysosomes des macrophages : ces « cellules de Gaucher » surchargees et activees liberent dans le plasma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::98c2dad05e19a84085baa6afd2f4cdc7
https://doi.org/10.1016/s0248-8663(07)78880-x
https://doi.org/10.1016/s0248-8663(07)78880-x
Autor:
V. Bonnet, I. Maire, Roseline Froissart, H.B. Limem, Latifa Chkioua, M. Abdelhedi, S. Khedhiri, Z. Jaidane, Sandrine Laradi, M. Chaabouni, A. Dandana, S. Habib, T. Jrad, S. Ferchichi
Publikováno v:
Archives de Pédiatrie. 14:1183-1189
Resume La mucopolysaccharidose de type I (MPS I) est une maladie de surcharge lysosomale, due au deficit en α-L-iduronidase (IDUA). C'est une maladie grave avec un spectre clinique heterogene comportant des atteintes progressives viscerales, osseuse
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e617afe53ed2710c29a1f6d7e195a0c4
https://doi.org/10.1016/j.arcped.2007.06.018
https://doi.org/10.1016/j.arcped.2007.06.018
Autor:
I Maire, J.L. Dupond, P. Bielefeld, M. Gouttard, Françoise Bouhour, Michel Pavic, A. Drouet, F. Flocard, J. Colin, Nathalie Streichenberger, Philippe Petiot, H. Rousset, J Pellat, D. Vital Durand
Publikováno v:
La Revue de Médecine Interne. 24:716-720
Resume Propos. – La maladie de Mac Ardle (MMA) ou glycogenose de type V debute le plus souvent dans l’enfance ou l’adolescence. Les symptomes sont generalement suffisamment evocateurs ou les malades suffisamment genes pour que le diagnostic soi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::24677010d4bb0462b097493c7583d02d
https://doi.org/10.1016/s0248-8663(03)00219-4
https://doi.org/10.1016/s0248-8663(03)00219-4