Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Lena, Damaj"'
Autor:
Berna Seker Yilmaz, Julien Baruteau, Nur Arslan, Halil Ibrahim Aydin, Magalie Barth, Ayse Ergul Bozaci, Anais Brassier, Ebru Canda, Aline Cano, Efstathia Chronopoulou, Grainne M. Connolly, Lena Damaj, Charlotte Dawson, Dries Dobbelaere, Claire Douillard, Fatma Tuba Eminoglu, Sahin Erdol, Melike Ersoy, Sherry Fang, François Feillet, Gulden Gokcay, Emine Goksoy, Magali Gorce, Asli Inci, Banu Kadioglu, Fatih Kardas, Cigdem Seher Kasapkara, Gonca Kilic Yildirim, Deniz Kor, Melis Kose, Cecilia Marelli, Helen Mundy, Siobhan O’Sullivan, Burcu Ozturk Hismi, Radha Ramachandran, Agathe Roubertie, Mehtap Sanlilar, Manuel Schiff, Srividya Sreekantam, Karolina M. Stepien, Ozlem Uzun Unal, Yilmaz Yildiz, Tanyel Zubarioglu, Paul Gissen
Publikováno v:
Life, Vol 12, Iss 11, p 1721 (2022)
X-linked ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle defect. The disease severity ranges from asymptomatic carrier state to severe neonatal presentation with hyperammonaemic encephalopathy. We audited the diagnosis and
Externí odkaz:
https://doaj.org/article/800ce92a6de9427e948d1938b211e04c
Autor:
Auriane Cospain, Christèle Dubourg, Swellen Gastineau, Samia Pichard, Virginie Gandemer, Jacinthe Bonneau, Marie de Tayrac, Caroline Moreau, Sylvie Odent, Laurent Pasquier, Lena Damaj, Alinoë Lavillaureix
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100621- (2020)
Chronic intestinal pseudoobstruction (CIPO) is a severe form of intestinal dysmotility, and patients often undergo iterative abdominal surgeries and require parenteral nutrition. Several genes are known to be responsible for this pathology, including
Externí odkaz:
https://doaj.org/article/01d981b45edc49e59f73a5858b0b787c
Autor:
Manoëlle, Kossorotoff, Basile, Kerleroux, Grégoire, Boulouis, Béatrice, Husson, Kim, Tran Dong, François, Eugene, Lena, Damaj, Augustin, Ozanne, Céline, Bellesme, Anne, Rolland, Romain, Bourcier, Aude, Triquenot-Bagan, Gaultier, Marnat, Jean-Philippe, Neau, Sylvie, Joriot, Alexandra, Perez, Maud, Guillen, Maximilien, Perivier, Frederique, Audic, Jean François, Hak, Christian, Denier, Olivier, Naggara, Denis, Herbreteaux
Publikováno v:
JAMA network open. 5(9)
ImportanceThere is to date limited evidence that revascularization strategies are associated with improved functional outcome in children with acute ischemic stroke (AIS).ObjectivesTo report clinical outcomes and provide estimates of revascularizatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d16e9e4c1218495d7a82f7a54c8f4b5
https://pubmed.ncbi.nlm.nih.gov/36107427
https://pubmed.ncbi.nlm.nih.gov/36107427
Autor:
Abdoulaye Ouattara, Noemie Resseguier, Aline Cano, Pascale De Lonlay, Jean-Baptiste Arnoux, Anais Brassier, Manuel Schiff, Samia Pichard, Alexandre Fabre, Celia Hoebeke, Nathalie Guffon, Alain Fouilhoux, Pierre Broué, Guy Touati, Dries Dobbelaere, Karine Mention, Francois Labarthe, Marine Tardieu, Loïc De Parscau, Francois Feillet, Chrystèle Bonnemains, Alice Kuster, Philippe Labrune, Magalie Barth, Lena Damaj, Delphine Lamireau, Julie Berbis, Pascal Auquier, Brigitte Chabrol
Publikováno v:
The Journal of Pediatrics
The Journal of Pediatrics, 2022, ⟨10.1016/j.jpeds.2022.08.060⟩
The Journal of Pediatrics, 2022, ⟨10.1016/j.jpeds.2022.08.060⟩
The objective of this study was to compare the quality of life (QoL) for parents of children with inborn errors of metabolism (IEMs) requiring a restricted diet with French population norms and investigate parental QoL determinants.This cross-section
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce7a23396a273909ff5c0688956b9df7
https://doi.org/10.1016/j.jpeds.2022.08.060
https://doi.org/10.1016/j.jpeds.2022.08.060
Autor:
Marie‐Céline François‐Heude, Elise Lebigot, Emmanuel Roze, Marie Thérèse Abi Warde, Claude Cances, Lena Damaj, Caroline Espil, Joel Fluss, Pascale de Lonlay, Ilse Kern, Guy Lenaers, Arnold Munnich, Pierre Meyer, Marie‐Aude Spitz, Stéphanie Torre, Diane Doummar, Guy Touati, Nicolas Leboucq, Agathe Roubertie
Publikováno v:
European Journal of Neurology
European Journal of Neurology, 2022, 29 (11), pp.3229-3242. ⟨10.1111/ene.15515⟩
European Journal of Neurology, 2022, 29 (11), pp.3229-3242. ⟨10.1111/ene.15515⟩
International audience; Background and purpose: HIBCH and ECHS1 genes encode two enzymes implicated in the critical steps of valine catabolism, 3-hydroxyisobutyryl-coenzyme A (CoA) hydrolase (HIBCH) and short-chainenoyl-CoA hydratase (ECHS1), respect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::730db116c938a17a8e9f30594c868b00
https://pubmed.ncbi.nlm.nih.gov/36200804
https://pubmed.ncbi.nlm.nih.gov/36200804
Autor:
Claire-Marine Bérat, Athanasia Stoupa, Henri Bruel, Lena Damaj, Marine Madrange, Perrine Renard, Celia Hoebeke, Magalie Barth, Alice Maltret, Arnaud Wiedemann, Nathalie Boddaert, Chris Ottolenghi, Sebastian Montealegre, Arnaud Hubas, Laure Caccavelli, Peter van Endert, Amélie Blondel, Alexandra Afenjar, Marie-Thérèse Abi-Wardé, Aline Cano, Stéphanie Gobin, Jean-François Benoist, François Feillet, Malou Le Corronc Nuzum, Stéphanie Torre, Patrick Nusbaum, Clément Pontoizeau, Brigitte Chabrol, Hugo Debruge, Michel Polak, Pascale de Lonlay
Publikováno v:
Journal of Inherited Metabolic Disease. 44:415-425
TANGO2 disease is a severe inherited disorder associating multiple symptoms such as metabolic crises, encephalopathy, cardiac arrhythmias, and hypothyroidism. The mechanism of action of TANGO2 is currently unknown. Here, we describe a cohort of 20 Fr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5933aad9a6e49d0275c79c323de06dbb
https://doi.org/10.1002/jimd.12314
https://doi.org/10.1002/jimd.12314
Autor:
Laurence, Pacot, Dominique, Vidaud, Audrey, Sabbagh, Ingrid, Laurendeau, Audrey, Briand-Suleau, Audrey, Coustier, Théodora, Maillard, Cécile, Barbance, Fanny, Morice-Picard, Sabine, Sigaudy, Olga O, Glazunova, Lena, Damaj, Valérie, Layet, Chloé, Quelin, Brigitte, Gilbert-Dussardier, Frédérique, Audic, Hélène, Dollfus, Anne-Marie, Guerrot, James, Lespinasse, Sophie, Julia, Marie-Christine, Vantyghem, Magali, Drouard, Marilyn, Lackmy, Bruno, Leheup, Yves, Alembik, Alexia, Lemaire, Patrick, Nitschké, Florence, Petit, Anne, Dieux Coeslier, Eugénie, Mutez, Alain, Taieb, Mélanie, Fradin, Yline, Capri, Hala, Nasser, Lyse, Ruaud, Benjamin, Dauriat, Sylvie, Bourthoumieu, David, Geneviève, Séverine, Audebert-Bellanger, Mathilde, Nizon, Radka, Stoeva, Geoffroy, Hickman, Gaël, Nicolas, Juliette, Mazereeuw-Hautier, Arnaud, Jannic, Salah, Ferkal, Béatrice, Parfait, Michel, Vidaud, Members Of The Nf France Network, Pierre, Wolkenstein, Eric, Pasmant
Publikováno v:
Cancers
Cancers, MDPI, 2021, 13 (12), pp.2963. ⟨10.3390/cancers13122963⟩
Cancers, 2021, 13 (12), pp.2963. ⟨10.3390/cancers13122963⟩
Cancers, MDPI, 2021, 13 (12), pp.2963. ⟨10.3390/cancers13122963⟩
Cancers, 2021, 13 (12), pp.2963. ⟨10.3390/cancers13122963⟩
Simple Summary Neurofibromatosis type 1 (NF1) is a genetic disorder caused by pathogenic variants in the NF1 tumor suppressor gene. In 5–10% of NF1 patients, a large heterozygous deletion of the whole NF1 gene is identified, leading to the commonly
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::904586f03251716813bda943b300a3db
http://hdl.handle.net/20.500.12278/112882
http://hdl.handle.net/20.500.12278/112882
Autor:
Yann Nadjar, Luis Aldámiz-Echevarría, Vassili Valayannopoulos, Vincent Rigalleau, María L. Couce, Pascal Cathebras, Dries Dobbelaere, Aline Cano, Nathalie Guffon, Lena Damaj, Manuel Schiff, Angeles Garcia-Cazorla, Virginie Levrat, Didier Eyer, Mercedes Martinez-Pardo Casanova, François Maillot, Guy Touati, Dominique Brunet, Luis Peña-Quintana, Jaime Dalmau, Sylvie Hieronimus
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, BioMed Central, 2019, 14 (1), pp.66. ⟨10.1186/s13023-019-1036-2⟩
Orphanet Journal of Rare Diseases, 2019, 14 (1), pp.66. ⟨10.1186/s13023-019-1036-2⟩
ORPHANET JOURNAL OF RARE DISEASES
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, BioMed Central, 2019, 14 (1), pp.66. ⟨10.1186/s13023-019-1036-2⟩
Orphanet Journal of Rare Diseases, 2019, 14 (1), pp.66. ⟨10.1186/s13023-019-1036-2⟩
ORPHANET JOURNAL OF RARE DISEASES
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Background The Registry of Adult and Paediatric Patients Treated with Cystadane® – Homocystinuria (RoCH) is a non-interventional, observational, multi-centre, post-authorization safety study that aimed to identify safety of betaine anhydrous (Cyst
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2559e6302252923d39e37b2f7e04fe41
http://link.springer.com/article/10.1186/s13023-019-1036-2
http://link.springer.com/article/10.1186/s13023-019-1036-2
Autor:
Christian Lavigne, Lena Damaj, Esther Noel, François Maillot, Sybill Charriere, Adrien Bigot, Vincent Rigalleau, Claire Douillard, Fanny Mochel, Elsa Kaphan, Ségolène Toquet, Amélie Servettaz, Samir Mesli, Gérard Besson, Roselyne Garnotel, Caroline Moreau, Agathe Roubertie, Sylvie Odent, Isabelle Redonnet-Vernhet, Jean Baptiste Arnoux, Marta Spodenkiewicz, Aude Servais
Publikováno v:
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, Springer Verlag, 2021, ⟨10.1002/jimd.12403⟩
Journal of Inherited Metabolic Disease, Springer Verlag, 2021, ⟨10.1002/jimd.12403⟩
BACKGROUND: Urea cycle disorders (UCD) are rare diseases that usually affect neonates or young children. During decompensations, hyperammonemia is neurotoxic, leading to severe symptoms and even coma and death if not treated rapidly. AIMS: Descriptio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88826c8496ec65eeeef85daf47f752f6
https://pubmed.ncbi.nlm.nih.gov/34014557
https://pubmed.ncbi.nlm.nih.gov/34014557
Autor:
Claire Forde, Emma Burkitt-Wright, Peter D. Turnpenny, Eric Haan, John Ealing, Sahar Mansour, Muriel Holder, Nayana Lahiri, Abhijit Dixit, Annie Procter, Laurence Pacot, Dominique Vidaud, Yline Capri, Marion Gerard, Hélène Dollfus, Elise Schaefer, Chloé Quelin, Sabine Sigaudy, Tiffany Busa, Gabriella Vera, Lena Damaj, Ludwine Messiaen, David A. Stevenson, Peter Davies, Sheila Palmer-Smith, Alison Callaway, Pierre Wolkenstein, Eric Pasmant, Meena Upadhyaya
Publikováno v:
European journal of human genetics : EJHG. 30(3)
Individuals with the three base pair deletion NM_000267.3(NF1):c.2970_2972del p.(Met992del) have been recognised to present with a milder neurofibromatosis type 1 (NF1) phenotype characterised by café-au-lait macules (CALs) and intertriginous freckl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2b550528e5e38bea66da11ccd388727
https://pubmed.ncbi.nlm.nih.gov/34897289
https://pubmed.ncbi.nlm.nih.gov/34897289