Zobrazeno 1 - 10
of 77
pro vyhledávání: '"Michel Odièvre"'
Publikováno v:
Journal of Inherited Metabolic Disease. 23:107-112
In patients with glycogen storage disease type Ia (glucose-6-phosphatase deficiency), serum triglyceride concentrations are markedly raised, whereas phospholipids and cholesterol levels are only moderately elevated. In addition, both VLDL and LDL lip
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad26c82c9471c626d0637d000d4759c8
https://doi.org/10.1023/a:1005605513534
https://doi.org/10.1023/a:1005605513534
Autor:
J. Zittoun, P. Niaudet, Philippe Labrune, J. Marquet, Michel Odièvre, I. Duvaltier, Pascale Trioche
Publikováno v:
European Journal of Pediatrics. 158:734-739
An 18-month-old girl presented with macrocytic megaloblastic anaemia followed by haemolytic uraemic syndrome. Metabolic investigations led to the identification of an inborn error of cobalamin metabolism consisting of defective methylcobalamin biosyn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9b03c37746fe1e0b4ea29c7a6f55f97
https://doi.org/10.1007/s004310051190
https://doi.org/10.1007/s004310051190
Publikováno v:
Journal of Pediatric Gastroenterology & Nutrition. 24:276-279
Hepatocellular adenomas may develop in patients with glycogen storage disease types I and III, and the malignant degeneration of adenomas in hepatocellular carcinoma has been reported in ten cases. The aim of this work was to study the characteristic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4efc7e4a8195e79f7d1c7a6871bf2c39
https://doi.org/10.1097/00005176-199703000-00008
https://doi.org/10.1097/00005176-199703000-00008
Autor:
J P Wilson, Philippe Labrune, K Heller, A P Mowat, Peter L.M. Jansen, V Masakowski, Richard Shepherd, C. N. Van Der Veere, Philip J. Rosenthal, J B Otte, G Bürk, W Sperl, G M Vergani, Johan Fevery, Patricia McClean, Michel Odièvre, Maarten Sinaasappel, A F McDonagh
Publikováno v:
Hepatology. 24:311-315
This study represents a multicenter survey on the management of patients with Crigler-Najjar syndrome (CNS) type 1. The aim of the survey was to find guiding principles for physicians in the care of these patients, Fifty-seven patients were included,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::074c5944b32d7aac657b7a4a5a5787ad
https://doi.org/10.1002/hep.510240205
https://doi.org/10.1002/hep.510240205
Autor:
Jan Hendrickx, J Fernandes, Erna Dams, Patrick Willems, Paul Coucke, Michel Odièvre, Philip Lee, Lucien Corbeel
Publikováno v:
Human Molecular Genetics. 4:77-83
Phosphorylase kinase (PHK) is a key enzyme in the control of glycogen breakdown. Several types of PHK deficiency have been described of which X-linked liver glycogenosis type I (XLG I) is the most common. Since the XLG I locus and the gene encoding t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c20275da714ae7f4d9ba2e899b86f59
https://doi.org/10.1093/hmg/4.1.77
https://doi.org/10.1093/hmg/4.1.77
Publikováno v:
Pediatric Dermatology. 11:237-240
A 2.5-month-old infant had Sweet syndrome. Chronic granulomatous disease was subsequently diagnosed by the nitroblue tetrazolium reduction test. To date, this infant is the youngest reported with Sweet syndrome. Moreover, the association of chronic g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7db3876c935205ce779eac557704b942
https://doi.org/10.1111/j.1525-1470.1994.tb00593.x
https://doi.org/10.1111/j.1525-1470.1994.tb00593.x
Autor:
Philippe Labrune, Pascale Trioche, Delphine Zenaty, Frédérique Capron, Francis Perreaux, Michel Odièvre
Publikováno v:
Journal of Pediatric Gastroenterology and Nutrition. 31:190-192
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::febb3780a8703c4a55dddb21a26424f3
https://doi.org/10.1097/00005176-200008000-00020
https://doi.org/10.1097/00005176-200008000-00020
Publikováno v:
Journal of Inherited Metabolic Disease. 15:723-726
Glycogen storage disease was suspected in a 10-month-old boy. Initial technical problems did not permit the determination of the precise enzyme, deficiency, and type VI glycogen storage disease was only diagnosed at the age of 2 years. In the mean ti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aacd0d5a06309286f14a47a071d997c9
https://doi.org/10.1007/bf01800013
https://doi.org/10.1007/bf01800013
Autor:
Jacques Valayer, Olivier Bernard, Michel Odièvre, Frédéric Gauthier, Daniel Alagille, J. Laurent, Michelle Hadchouel
Publikováno v:
Gastroenterology. 99:1793-1797
To define long-term prognosis of children who underwent surgery for biliary atresia, a retrospective study was undertaken in 122 children who underwent one of the Kasai procedures between 1968 and 1977. Forty of the 122 children (32.7%) were alive af
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::84da223f97d58fec901b7b10dfeea380
https://doi.org/10.1016/0016-5085(90)90489-n
https://doi.org/10.1016/0016-5085(90)90489-n
Publikováno v:
Journal of Pediatric Gastroenterology and Nutrition. 10:540-543
Summary This report concerns a boy with congenital hepatic fibrosis, cystic kidneys, mental retardation, and minor dysmorphic features. These symptoms have rarely been reported before and indicate that congenital hepatic fibrosis may not be a single
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3438087e7b6fd3b11570c3014c3fd3d
https://doi.org/10.1097/00005176-199005000-00019
https://doi.org/10.1097/00005176-199005000-00019