Výsledky vyhledávání - "J. -M. Saudubray"

[New insights in inborn errors of metabolism are leading to new paradigms in child neurology]

Autor: A, Garcia-Cazorla, J M, Saudubray

Publikováno v: Revista de neurologia. 66(s02)

In the last recent years, the -omics era has already transformed child neurology. Next generation sequencing (NGS) has identified many novel disease causing genes and phenotypes. While genetics is of great importance as a diagnostic tool, it is less

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::2b4e7b769d10d24e1fff9d717924649b
https://pubmed.ncbi.nlm.nih.gov/29876911

Zobrazit plný text záznamu

Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein

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

Zobrazit plný text záznamu

Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency

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

Zobrazit plný text záznamu

Les maladies héréditaires du métabolisme à l’âge adulte

Autor: J M Saudubray, F Sedel

Publikováno v: Annales d'Endocrinologie. 70:14-24

We present a simplified classification of treatable inborn errors of metabolism (IEM) in three groups with a special focus on those disorders observed at adult age. Group 1 includes inborn errors (IE) of intermediary metabolism which give rise to an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0e6d59c7c996906a560b94b0c9dd4ffe
https://doi.org/10.1016/j.ando.2008.12.004

Zobrazit plný text záznamu

Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults

Autor: J.-M. Saudubray, David Cohen, Olivier Lyon-Caen, J.-C. Turpin, N. Baumann, Frédéric Sedel

Publikováno v: Journal of Inherited Metabolic Disease. 30:631-641

Inborn errors of metabolism (IEMs) may present in adolescence or adulthood as a psychiatric disorder. In some instances, an IEM is suspected because of informative family history or because psychiatric symptoms form part of a more diffuse clinical pi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::42249f434b3000596af93696ffa659a0
https://doi.org/10.1007/s10545-007-0661-4

Zobrazit plný text záznamu

Methylmalonic and propionic acidurias: Management without or with a few supplements of specific amino acid mixture

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

Zobrazit plný text záznamu

L'hyperinsulinisme congénital du nouveau-né et du nourrisson

Autor: Francis Jaubert, Irina Giurgea, P. de Lonlay, Francis Brunelle, J-M. Saudubray, Claire Nihoul-Fékété, M-J. Ribeiro, Guy Touati, C. Bellanné-Chantelot, Nathalie Boddaert, J.-J. Robert

Publikováno v: Archives de Pédiatrie. 12:1628-1635

Congenital hyperinsulinism (HI) is the most important cause of hypoglycaemia in early infancy. The inappropriate oversecretion of insulin is responsible for profound hypoglycaemias requiring aggressive treatment to prevent severe and irreversible bra

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e7455787dde8fd4f785af22a9b3fc45e
https://doi.org/10.1016/j.arcped.2005.07.016

Zobrazit plný text záznamu

Methylmalonic and propionic acidaemias: Management and outcome

Autor: H. Ogier de Baulny, Guy Touati, J.-F. Benoist, Odile Rigal, Daniel Rabier, J. M. Saudubray

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

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání