Zobrazeno 1 - 10
of 69
pro vyhledávání: '"Aline Cano"'
Autor:
Wladimir Mauhin, Nathalie Guffon, Marie T. Vanier, Roseline Froissart, Aline Cano, Claire Douillard, Christian Lavigne, Bénédicte Héron, Nadia Belmatoug, Yurdagül Uzunhan, Didier Lacombe, Thierry Levade, Aymeric Duvivier, Ruth Pulikottil-Jacob, Fernando Laredo, Samia Pichard, Olivier Lidove, ASSUR Study Group
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-12 (2024)
Abstract Background Acid sphingomyelinase deficiency (ASMD) or Niemann–Pick disease types A, A/B, and B is a progressive, life-limiting, autosomal recessive disorder caused by sphingomyelin phosphodiesterase 1 (SMPD1) gene mutations. There is a nee
Externí odkaz:
https://doaj.org/article/ab41a96d0cef4ab491a951b59def6bd6
Autor:
Camille Wicker, Aline Cano, Valérie Decostre, Roseline Froissart, François Maillot, Ariane Perry, François Petit, Catherine Voillot, Karim Wahbi, Joëlle Wenz, Pascal Laforêt, Philippe Labrune
Publikováno v:
European Journal of Medical Research, Vol 28, Iss 1, Pp 1-22 (2023)
Abstract The aim of the Protocole National De Diagnostic et de Soins/French National Protocol for Diagnosis and Healthcare (PNDS) is to provide advice for health professionals on the optimum care provision and pathway for patients with glycogen stora
Externí odkaz:
https://doaj.org/article/389673521e5446818b8401fbd43ceced
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-13 (2023)
Abstract Background The risk of neuropsychological disorders appears to be high in hyperphenylalaninemia (HPA). The hypothesis of executive function impairment is prominent in accounting for the neuropsychological phenotype in phenylketonuria (PKU) a
Externí odkaz:
https://doaj.org/article/cd4e466912f84e0bbc13c5e7ab285aeb
Autor:
R. Justine Perrin, Caroline Rousset‐Rouvière, Florentine Garaix, Aline Cano, John Conrath, Olivia Boyer, Michel Tsimaratos
Publikováno v:
JIMD Reports, Vol 54, Iss 1, Pp 37-44 (2020)
Abstract Introduction Primary coenzyme Q10 (CoQ10) deficiencies are a group of mitochondrial disorders that has proven responsiveness to replacement therapy. Mutations in enzymes involved in the biosynthesis of CoQ10 genes are associated with these d
Externí odkaz:
https://doaj.org/article/b66af3c43b9a49789b4b8c57f87b08f7
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:
Vassili Valayannopoulos, Manuel Schiff, Nathalie Guffon, Yann Nadjar, Angels García-Cazorla, Mercedes Martinez-Pardo Casanova, Aline Cano, Maria L. Couce, Jaime Dalmau, Luis Peña-Quintana, Vincent Rigalleau, Guy Touati, Luis Aldamiz-Echevarria, Pascal Cathebras, Didier Eyer, Dominique Brunet, Léna Damaj, Dries Dobbelaere, Claire Gay, Sylvie Hiéronimus, Virginie Levrat, François Maillot
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)
Abstract 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 anhydr
Externí odkaz:
https://doaj.org/article/05d49c6bc6994b81a7acb386a29e24b7
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 9, p 5205 (2022)
Left Ventricular Non-Compaction (LVNC) is defined by the triad prominent myocardial trabecular meshwork, thin compacted layer, and deep intertrabecular recesses. LVNC associated with dilation is characterized by the coexistence of left ventricular di
Externí odkaz:
https://doaj.org/article/3830aafd778345728e8a603f0a8b306b
Autor:
Abderrahim Oussalah, Elise Jeannesson-Thivisol, Céline Chéry, Pascal Perrin, Pierre Rouyer, Thomas Josse, Aline Cano, Magalie Barth, Alain Fouilhoux, Karine Mention, François Labarthe, Jean-Baptiste Arnoux, François Maillot, Catherine Lenaerts, Cécile Dumesnil, Kathy Wagner, Daniel Terral, Pierre Broué, Loic De Parscau, Claire Gay, Alice Kuster, Antoine Bédu, Gérard Besson, Delphine Lamireau, Sylvie Odent, Alice Masurel, Rosa-Maria Rodriguez-Guéant, François Feillet, Jean-Louis Guéant, Fares Namour
Publikováno v:
EBioMedicine, Vol 51, Iss , Pp - (2020)
Background: Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism in Europe. The reasons underlying the high prevalence of heterozygous carriers are not clearly understood. We aimed to look for pathogenic PAH variant enrichme
Externí odkaz:
https://doaj.org/article/f4615d7cffba4666a72a02f624b5ba23
Publikováno v:
IDCases, Vol 7, Iss C, Pp 25-26 (2017)
Brevibacterium massiliense infection in man is rare. We report here the second case with isolation of B. massiliense in human. This micro-organism requires specific laboratory investigations such as 16S rRNA gene sequencing for accurate species ident
Externí odkaz:
https://doaj.org/article/1bd9d7fe5f5e4da6b2f4e8d5790cc4b9
Autor:
Antoine Gardin, Martin Castelle, Samia Pichard, Aline Cano, Brigitte Chabrol, Julie Piarroux, Agathe Roubertie, Yann Nadjar, Anne-Sophie Guemann, Marine Tardieu, Didier Lacombe, Matthieu P. Robert, Catherine Caillaud, Roseline Froissart, Virginie Leboeuf, Valérie Barbier, Juliette Bouchereau, Manuel Schiff, Brigitte Fauroux, Briac Thierry, Romain Luscan, Syril James, Timothée de Saint-Denis, Stéphanie Pannier, Cyril Gitiaux, Estelle Vergnaud, Nathalie Boddaert, Claire Lascourreges, Michel Lemoine, Damien Bonnet, Stéphane Blanche, Jean-Hugues Dalle, Bénédicte Neven, Pascale de Lonlay, Anaïs Brassier
Publikováno v:
Bone Marrow Transplantation. 58:295-302
Mucopolysaccharidosis type I-H (MPS I-H) is a rare lysosomal storage disorder caused by α-L-Iduronidase deficiency. Early haematopoietic stem cell transplantation (HSCT) is the sole available therapeutic option to preserve neurocognitive functions.