Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Alix Mollet, Boudjemline"'
Autor:
Vincent Gajdos, Sandrine Katsahian, Nicole Beydon, Véronique Abadie, Loïc de Pontual, Sophie Larrar, Ralph Epaud, Bertrand Chevallier, Sylvain Bailleux, Alix Mollet-Boudjemline, Jean Bouyer, Sylvie Chevret, Philippe Labrune
Publikováno v:
PLoS Medicine, Vol 7, Iss 9, p e1000345 (2010)
BackgroundAcute bronchiolitis treatment in children and infants is largely supportive, but chest physiotherapy is routinely performed in some countries. In France, national guidelines recommend a specific type of physiotherapy combining the increased
Externí odkaz:
https://doaj.org/article/0feadb2c91b24b0cb0d6981c4db08ec4
Publikováno v:
Haematologica, Vol 92, Iss 7 (2007)
Externí odkaz:
https://doaj.org/article/ffd4602057bb4884a74a189f3544e74b
Klüver Bucy syndrome following hypoglycaemic coma in a patient with glycogen storage disease type Ib
Autor:
Philippe Labrune, Vincent Gajdos, Alix Mollet Boudjemline, Arnaud Isapof, François Petit, Jean-Bernard Witas
Publikováno v:
Journal of Inherited Metabolic Disease. 33:477-480
Patients with type I glycogen storage disease (GSD) have poor tolerance to fasting, sometimes less than 3 hours during infancy. Even though most patients are able, as they get older, to tolerate a longer fasting period, they are at permanent risk for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9da4dcae29cf69772423556409836e40
https://doi.org/10.1007/s10545-010-9243-y
https://doi.org/10.1007/s10545-010-9243-y
Autor:
François Petit, Philippe Labrune, Alix Mollet Boudjemline, Pascale Trioche Eberschweiler, Vincent Gajdos, Aurélie Hubert-Buron
Publikováno v:
La Presse Médicale. 37:1172-1177
Hepatic glycogen storage diseases are rare inherited conditions affecting glycogen metabolism. During the last twenty years, medical progress has allowed children who used to die before they reached the age of ten years to reach adulthood. It is impo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2713979df0bb71c30025f41c74951f5f
https://doi.org/10.1016/j.lpm.2007.09.023
https://doi.org/10.1016/j.lpm.2007.09.023
Autor:
Pascale Trioche-Eberschweiler, Philippe Labrune, Alix Mollet-Boudjemline, David Fallik, Laurence Weiss, Laurence Foix-L’Helias
Publikováno v:
Acta Paediatrica. 94:1158-1161
UNLABELLED An adolescent was hospitalized for recurring abdominal pains, which had previously led to appendicectomy. Laboratory data finally led to the diagnosis of hereditary angioneurotic oedema, after several hypotheses had been raised and ruled o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d3597d345cae50087b61074a3b608249
https://doi.org/10.1111/j.1651-2227.2005.tb02064.x
https://doi.org/10.1111/j.1651-2227.2005.tb02064.x
Autor:
François Petit, Pascale Trioche Eberschweiler, Alix Mollet Boudjemline, Christine Vianey-Saban, Monique Piraud, Roseline Froissart, Philippe Labrune, Vincent Gajdos, Aurélie Hubert-Buron
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, BioMed Central, 2011, 6 (1), pp.27. ⟨10.1186/1750-1172-6-27⟩
Orphanet Journal of Rare Diseases, Vol 6, Iss 1, p 27 (2011)
Orphanet Journal of Rare Diseases, BioMed Central, 2011, 6 (1), pp.27. ⟨10.1186/1750-1172-6-27⟩
Orphanet Journal of Rare Diseases, Vol 6, Iss 1, p 27 (2011)
Glucose-6-phosphatase deficiency (G6P deficiency), or glycogen storage disease type I (GSDI), is a group of inherited metabolic diseases, including types Ia and Ib, characterized by poor tolerance to fasting, growth retardation and hepatomegaly resul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e0f15c2fe3c29e5b28c1542b8bbd8ee
https://doi.org/10.1186/1750-1172-6-27
https://doi.org/10.1186/1750-1172-6-27
Autor:
Pascale Trioche-Eberschweiller, Mylène Mabille, Roxana Aldea, Alix Mollet-Boudjemline, Philippe Labrune, Catherine Boyer-Neumann, Aurélie Hubert-Buron, Anne-Elisabeth Mas, Dominique Franco, Vincent Gajdos
Publikováno v:
JIMD Reports ISBN: 9783642177071
The development of hepatocellular adenomas in the liver of patients with glycogen storage disease type I is a well-known complication of the disease. Surgical procedures and perioperative managements described so far have reported persistent and impo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1eb19d6d314fd66cb5a9d66942aaea73
https://doi.org/10.1007/8904_2011_23
https://doi.org/10.1007/8904_2011_23
Autor:
Anne Laure Sellier, Georges Deschênes, Vincent Gajdos, Theresa Kwon, Alix Mollet Boudjemline, Philippe Labrune
Publikováno v:
JIMD Reports ISBN: 9783642247576
Crigler-Najjar syndrome type I (CN-I, MIM #218800) is a rare and severe autosomal disorder. It is caused by deficiency of the liver enzyme responsible for bilirubin elimination, the uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1; EC 2.4.1.17
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f267fd8c88b82390cd4d2138d09238e3
https://pubmed.ncbi.nlm.nih.gov/23430851
https://pubmed.ncbi.nlm.nih.gov/23430851
Autor:
Véronique Abadie, Nicole Beydon, Sylvie Chevret, Jean Bouyer, Philippe Labrune, Loïc de Pontual, Sophie Larrar, Alix Mollet-Boudjemline, Sandrine Katsahian, Vincent Gajdos, Sylvain Bailleux, Bertrand Chevallier, Ralph Epaud
Publikováno v:
PLoS Medicine
PLoS Medicine, Public Library of Science, 2010, 7 (9), pp.e1000345. ⟨10.1371/journal.pmed.1000345⟩
PLoS Medicine, Vol 7, Iss 9, p e1000345 (2010)
PLoS Medicine, Public Library of Science, 2010, 7 (9), pp.e1000345. 〈10.1371/journal.pmed.1000345〉
PLoS Medicine, 2010, 7 (9), pp.e1000345. ⟨10.1371/journal.pmed.1000345⟩
PLoS Medicine, Public Library of Science, 2010, 7 (9), pp.e1000345. ⟨10.1371/journal.pmed.1000345⟩
PLoS Medicine, Vol 7, Iss 9, p e1000345 (2010)
PLoS Medicine, Public Library of Science, 2010, 7 (9), pp.e1000345. 〈10.1371/journal.pmed.1000345〉
PLoS Medicine, 2010, 7 (9), pp.e1000345. ⟨10.1371/journal.pmed.1000345⟩
Vincent Gajdos and colleagues report results of a randomized trial conducted among hospitalized infants with bronchiolitis. They show that a physiotherapy technique (increased exhalation and assisted cough) commonly used in France does not reduce tim
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce14062a340f70cddd599b91eff0d1b2
https://www.hal.inserm.fr/inserm-00701095/document
https://www.hal.inserm.fr/inserm-00701095/document
Autor:
François Petit, Naima Khrouf, Liliane Capel, Vincent Gajdos, Stéphane Bézieau, Jeanne Francoual, Alix Mollet-Boudjemline, Abraham Koshy, Frédéric Parisot, Ridha M’Rad, Volodia Stozinic, P. Labrune, Catherine Scoul
Publikováno v:
European journal of human genetics : EJHG. 16(7)
Crigler–Najjar syndrome type I (CN-I) is a rare and severe metabolic disorder. A recurrent mutation – c.1070A>G in exon 3 – was identified in the Tunisian population, suggesting a founder effect. In 2004, the detection of this mutation in two K
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5401bf1a30941e753e778ab906cd0c5
https://pubmed.ncbi.nlm.nih.gov/18197191
https://pubmed.ncbi.nlm.nih.gov/18197191