Výsledky vyhledávání - "de Baulny Hélène Ogier"

Akademický článek

Recommendations for the management of tyrosinaemia type 1

Autor: de Laet Corinne, Dionisi-Vici Carlo, Leonard James V, McKiernan Patrick, Mitchell Grant, Monti Lidia, de Baulny Hélène Ogier, Pintos-Morell Guillem, Spiekerkötter Ute

Publikováno v: Orphanet Journal of Rare Diseases, Vol 8, Iss 1, p 8 (2013)

Abstract The management of tyrosinaemia type 1 (HT1, fumarylacetoacetase deficiency) has been revolutionised by the introduction of nitisinone but dietary treatment remains essential and the management is not easy. In this review detailed recommendat

Externí odkaz: https://doaj.org/article/945b18b2a4014520995d34da3bd9dcc6

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The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

Autor: Kölker, Stefan, Valayannopoulos, Vassili, Burlina, Alberto B, Sykut-Cegielska, Jolanta, Wijburg, Frits A, Teles, Elisa Leão, Zeman, Jiří, Dionisi-Vici, Carlo, Barić, Ivo, Karall, Daniela, Arnoux, Jean-Baptiste, Avram, Paula, Baumgartner, Matthias R, Blasco-Alonso, Javier, Boy, S P Nikolas, Rasmussen, Marlene Bøgehus, Burgard, Peter, Chabrol, Brigitte, Chakrapani, Anupam, Chapman, Kimberly, Cortès I Saladelafont, Elisenda, Couce, Maria L, De Meirleir, Linda, Dobbelaere, Dries, Furlan, Francesca, Gleich, Florian, González, Maria Julieta, Gradowska, Wanda, Grünewald, Stephanie, Honzík, Tomáš, Hörster, Friederike, Ioannou, Hariklea, Jalan, Anil, Häberle, Johannes, Haege, Gisela, Langereis, Eveline, De Lonlay, Pascale, Martinelli, Diego, Matsumoto, Shirou, Mühlhausen, Chris, Murphy, Elaine, de Baulny, Hélène Ogier, Ortez, Carlos, Pedrón, Consuelo C, Pintos-Morell, Guillem, Pena-Quintana, Luis, Ramadža, Danijela Petković, Rodrigues, Esmeralda, Scholl-Bürgi, Sabine, Sokal, Etienne, Summar, Marshall L, Thompson, Nicholas, Vara, Roshni, Pinera, Inmaculada Vives, Walter, John H, Williams, Monique, Lund, Allan M, Garcia-Cazorla, Angeles, Garcia Cazorla, Angeles

Publikováno v: Journal of inherited metabolic disease
JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Journal of inherited metabolic disease, 38(6), 1059-1074. Springer Netherlands
Journal of Inherited Metabolic Disease, 38(6), 1059-1074. Springer Netherlands

BACKGROUND: The disease course and long-term outcome of patients with organic acidurias (OAD) and urea cycle disorders (UCD) are incompletely understood. AIMS: To evaluate the complex clinical phenotype of OAD and UCD patients at different ages. RESU

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2a51bce13d144218341e97b7e2e3d86

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