Zobrazeno 1 - 10
of 189
pro vyhledávání: '"H, Ogier de Baulny"'
Publikováno v:
EMC - Pediatría. 47:1-9
La galactosa es uno de los componentes del disacarido lactosa, que es el carbohidrato mas abundante en la leche de los mamiferos. Existen tres enfermedades hereditarias del metabolismo de la galactosa. El deficit de galactocinasa provoca un cuadro de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8e506bb6017a274e2597fde4e85be47d
https://doi.org/10.1016/s1245-1789(12)62753-x
https://doi.org/10.1016/s1245-1789(12)62753-x
Autor:
Julien Baruteau, A. Mlika, Manuel Schiff, R. Wanders, V. Bellavoine, G. Benoist, H. Ogier de Baulny, C. Galoin-Bertail
Publikováno v:
Archives de Pédiatrie. 19:135-141
UNLABELLED: Sjogren-Larsson syndrome (SLS) is a neurocutaneous autosomal recessive disease caused by fatty aldehyde dehydrogenase (FADH) deficiency. This enzyme is involved in the biosynthesis pathways of some fatty acids, phytanic acid, and leukotri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cb77414ba6b34c87f805ed40f37a02e6
https://doi.org/10.1016/j.arcped.2011.11.004
https://doi.org/10.1016/j.arcped.2011.11.004
Autor:
Manuèle Miné, P. de Lonlay, C. Marsac, Christine Barnerias, Michèle Brivet, J.-M. Saudubray, A. Boutron, A. Imbard, C. Vequaud, H. Ogier de Baulny, Mokhtar Zater
Publikováno v:
Molecular Genetics and Metabolism. 104:507-516
Background Pyruvate dehydrogenase complex (PDHc) deficiencies are an important cause of primary lactic acidosis. Most cases result from mutations in the X-linked gene for the pyruvate dehydrogenase E1α subunit ( PDHA1 ) while a few cases result from
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a72062adf0bcbfa0ed67e5fed95b819
https://doi.org/10.1016/j.ymgme.2011.08.008
https://doi.org/10.1016/j.ymgme.2011.08.008
Autor:
T. Billette de Villemeur, Odile Rigal, François Feillet, Arnold Munnich, Delphine Lamireau, Nathalie Guffon, Michèle Brivet, P. de Lonlay, Aline Cano, Daniel Rabier, J. M. Saudubray, H. Ogier de Baulny, François Labarthe, Cécile Acquaviva, Dries Dobbelaere, A. Boutron, Christine Vianey-Saban
Publikováno v:
Molecular Genetics and Metabolism. 103:341-348
Background Deficiency of mitochondrial trifunctional protein (MTP) is caused by mutations in the HADHA and HADHB genes, which have been mostly delineated at the genomic DNA level and have not been always elucidated. Aim To identify mutations in a Fre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4da71f6f994760fa225dcea19bfffb1e
https://doi.org/10.1016/j.ymgme.2011.04.006
https://doi.org/10.1016/j.ymgme.2011.04.006
Autor:
A. Davit-Spraul, Marie-Odile Greneche, S. Roche, J.-F. Benoist, A. Imbard, H. Ogier de Baulny, N. Garcia Segarra
Publikováno v:
Journal of Inherited Metabolic Disease. 33:507-510
A 22 year-old woman with tyrosinemia type I (HT1) married her first cousin who is heterozygous for the same FAH mutation for which the patient is homozygous. During her pregnancy she was treated with diet (prescribed tyrosine intake 300 mg/day), and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33b4990fddb8bb094ccf8a04544f6cf2
https://doi.org/10.1007/s10545-012-9569-8
https://doi.org/10.1007/s10545-012-9569-8
Autor:
H. Ogier de Baulny, J. Viala, Abdelhamid Slama, Guy Sebag, Monique Elmaleh-Bergès, P. Rousset
Publikováno v:
Journal of Neuroradiology. 35:121-124
This paper describes MRI aspects of a leukodystrophy due to the Mitochondrial Neurogastrointestinal Encephalomyopathy syndrome in an adolescent girl investigated for nocturnal recurrent emesis leading to major cachexia.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::181f48f013693e124fed8b1551f92ae5
https://doi.org/10.1016/j.neurad.2007.07.003
https://doi.org/10.1016/j.neurad.2007.07.003
Autor:
K. Mention, J. C. Souberbielle, Vassili Valayannopoulos, Eliane Depondt, P. de Lonlay, Daniel Rabier, J. M. Saudubray, M. Assoun, Philippe Jouvet, H. Ogier de Baulny, Guy Touati
Publikováno v:
Journal of Inherited Metabolic Disease. 29:288-298
In a series of 137 patients with methylmalonic acidaemia (MMA) and propionic acidaemia (PA) diagnosed since the early 1970s, we report in more detail 81 patients (51 MMA and 30 PA) diagnosed between 1988 and 2005. In this series, 14% of patients died
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26d974ab08d1aa51135e185cf7dbc730
https://doi.org/10.1007/s10545-006-0351-7
https://doi.org/10.1007/s10545-006-0351-7
Publikováno v:
EMC - Pédiatrie - Maladies infectieuses. 1:1-7
Resume Le galactose est un des constituants du disaccharide lactose, lequel est le carbohydrate le plus abondant dans le lait des mammiferes. Il existe trois maladies hereditaires du metabolisme du galactose. Le deficit en galactokinase est une cause
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acc2615cd90375c6fe7eb0da4659982a
https://doi.org/10.1016/s1637-5017(06)74488-x
https://doi.org/10.1016/s1637-5017(06)74488-x
Publikováno v:
Journal of Inherited Metabolic Disease. 28:415-423
Organic acidurias comprise many various disorders. Methylmalonic aciduria (MMA) and propionic aciduria (PA) are the most frequent diseases and the two organic acidurias for which we have better knowledge of the long-term outcome. Comparing the outcom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51d615c2afeaf5a88311ae0f1b0bc152
https://doi.org/10.1007/s10545-005-7056-1
https://doi.org/10.1007/s10545-005-7056-1
Autor:
N Maurin, L de Parscau, H. Ogier de Baulny, Véronique Abadie, A Mercier, François Feillet, Jacques Berthelot
Publikováno v:
Archives de Pédiatrie. 12:594-601
Phenylketonuria (PKU) is an inherited metabolic disease affecting about one birth out of 15 000. From 1978, a national systematic neonatal screening was set up in France with a regional organisation. French rational and guidelines have been establish
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2d884e40709b2dc166d6b3994435ae1b
https://doi.org/10.1016/j.arcped.2005.02.004
https://doi.org/10.1016/j.arcped.2005.02.004