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Publikováno v:
In Archives de pédiatrie 1999 6(4):427-429
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
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
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
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
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
Publikováno v:
Archives de Pédiatrie. 17:S45-S49
Resume La maladie de Niemann-Pick type C (NPC) est une maladie de surcharge lysosomale neuroviscerale, rare, autosomique recessive, liee a une anomalie du trafic intracellulaire de lipides conduisant a leur accumulation dans le cerveau, le foie, la r
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.
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