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Autor:
S, Valence, C, Garel, M, Barth, A, Toutain, C, Paris, D, Amsallem, M-A, Barthez, M, Mayer, D, Rodriguez, L, Burglen
Publikováno v:
Clinical genetics. 90(6)
Pontocerebellar hypoplasias (PCH) are characterized by lack of development and/or early neurodegeneration of cerebellum and brainstem. We report five patients referred for PCH, showing atypical clinical and magnetic resonance imaging (MRI) features s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::88d6638984d0a65905699029509a7481
https://pubmed.ncbi.nlm.nih.gov/27000652
https://pubmed.ncbi.nlm.nih.gov/27000652
Enzymothérapie substitutive chez un nourrisson atteint de maladie de Pompe : évolution cardiologique
Autor:
François Labarthe, R. Bonnefoy, J. Chantreuil, Alain Chantepie, M.-A. Barthez, F. Paoli, R. Froissart, J. Poinsot
Publikováno v:
Archives de Pédiatrie. 15:1760-1764
Resume La maladie de Pompe est une maladie lysosomale autosomique recessive due a une surcharge en glycogene par deficit en maltase acide. La forme infantile est mortelle avant l’âge de 1 an en l’absence de traitement specifique. Notre travail r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::561dec7b9005ac0940e2b20983108dc3
https://doi.org/10.1016/j.arcped.2008.09.014
https://doi.org/10.1016/j.arcped.2008.09.014
Publikováno v:
EMC - Maladies infectieuses. 4:1-28
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::46db94ece37fbe5022b88667675bc68b
https://doi.org/10.1016/s1166-8598(07)41779-3
https://doi.org/10.1016/s1166-8598(07)41779-3
Autor:
Dominique Sirinelli, F. Despert, S. Mazjoub, Christian Bonnard, B. de Courtivron, J. Maheut-Lourmière, Gérard Lorette, B. Roze-Abert, E. Bonnemaison, M. Boscq, M.-A. Barthez, Pierre Castelnau, Annick Toutain
Publikováno v:
Archives de Pédiatrie. 13:1009-1014
Resume La neurofibromatose de type 1 (NF1) est une maladie genetique frequente. Le diagnostic repose sur des criteres cliniques precis. La NF1 expose a des complications variees et imprevisibles. Objectifs Realiser un suivi clinique prospectif plurid
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::589db5221107284f6cc292b537e291cf
https://doi.org/10.1016/j.arcped.2006.03.149
https://doi.org/10.1016/j.arcped.2006.03.149
Autor:
A. Favreau, Bruno Giraudeau, Pierre Castelnau, C. Krier, G. Deseille-Turlotte, M.-A. Barthez, F. Brault
Publikováno v:
Archives de Pédiatrie. 13:442-448
Resume Le methylphenidate (MPH) participe au traitement du trouble « deficit de l'attention/hyperactivite » (TDAH). A la forme a liberation immediate, la Ritaline ® (RLI), s'ajoutent 2 nouvelles presentations a liberation prolongee (LP) qui permet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3b096b42be434afd681db813ff296869
https://doi.org/10.1016/j.arcped.2006.02.004
https://doi.org/10.1016/j.arcped.2006.02.004
Publikováno v:
Archives de Pédiatrie. 12:1676-1683
Ischemic strokes represent a rare condition in childhood, mostly revealed by a motor deficit. In the pediatric age, strokes are different than in adulthood where atherosclerosis is the major cause. The etiologies of stroke in childhood are rather mul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::757b00de6a9a3b1be70570433e55cc00
https://doi.org/10.1016/j.arcped.2005.01.037
https://doi.org/10.1016/j.arcped.2005.01.037
Autor:
Elisabeth Autret-Leca, M.-A. Barthez-Carpentier, A.-P. Jonville-Béra, K. Norbert, L. Bensouda-Grimaldi, Elie Saliba, J. Bentata
Publikováno v:
Archives de Pédiatrie. 14:1439-1441
The DRESS syndrome (Rash with Eosinophilia and Systemic Symptoms) is a drug hypersensitivity reaction poorly known by paediatricians. It occurs within 1 to 8 weeks of treatment. Clinical features associate in variable patterns, fever, rash, lymphaden
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c531b494b9428e5f005905d201f5c0a2
https://doi.org/10.1016/j.arcped.2007.07.016
https://doi.org/10.1016/j.arcped.2007.07.016
Publikováno v:
Revue Neurologique. 162:240-242
Resume Introduction Le syndrome du defile thoraco-brachial correspond a une compression des structures vasculo-nerveuses du membre superieur au passage du defile des scalenes par une cote cervicale surnumeraire ou une apophyse transverse de la verteb
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4ffb677d7abf732c3a6328c6c2ccbbdb
https://doi.org/10.1016/s0035-3787(06)75007-x
https://doi.org/10.1016/s0035-3787(06)75007-x
Autor:
M.-A. Barthez, Bruno Giraudeau, Dominique Sirinelli, Catherine Sembely, Geraldine Deseille-Turlotte, Jean-Philippe Cottier, C. Barbier, Gérard Lorette, Pierre Castelnau, Camille Chabernaud
Publikováno v:
Developmental neuropsychology. 34(6)
Learning disabilities represent the main childhood complication in neurofibromatosis type 1 (NF1). Patients frequently exhibit T2-weighted hyperintensities called unidentified bright objects (UBOs) on brain magnetic resonance imaging (MRI), with uncl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f11d48f51d16147a990b8be8934331f
https://pubmed.ncbi.nlm.nih.gov/20183730
https://pubmed.ncbi.nlm.nih.gov/20183730