Results 141 to 150 of about 2,289,814 (238)

Sweet syndrome in patients with Fanconi anaemia: association with extracutaneous manifestations and progression of haematological disease [PDF]

, 2011
Lisa Giulino, Eva C. Guinan, Alfred P. Gillio, Richard A. Drachtman, Julie Teruya‐Feldstein, Farid Boulad   +5 more
openalex   +1 more source

Fanconi Anemia in Portugal: retrospective study of 34 years of investigation at National Health Institute (1980-2014) [PDF]

, 2016
A Anemia de Fanconi (AF) é uma doença recessiva rara, com uma frequência estimada de 4 a 7 por 1 000 000 de nascimentos. Caraterizase por malformações congénitas, falência medular e hipersensibilidade a agentes clastogénicos de DNA.
Ambrósio, Ana Paula, Correia, Hildeberto, Furtado, José Manuel, Silva, Maria do Céu, Silva, Neuza, Ventura, Catarina, Viegas, Mónica   +6 more
core  

der(1)t(1;1)(p36;q10) as a Rare Variant of 1q Gain in Fanconi Anemia-Associated Myelodysplastic Syndrome

, 2020
Moeinadin Safavi, Mohammad Vasei
openalex   +1 more source

Interaction between galectin-3 and cystinosin uncovers a pathogenic role of inflammation in kidney involvement of cystinosis. [PDF]

, 2019
Inflammation is involved in the pathogenesis of many disorders. However, the underlying mechanisms are often unknown. Here, we test whether cystinosin, the protein involved in cystinosis, is a critical regulator of galectin-3, a member of the β ...
Antignac, Corinne, Bailleux, Anne, Catz, Sergio D, Cherqui, Stephanie, Cheung, Wai W, Gubler, Marie-Claire, Guerrera, Ida Chiara, Lobry, Tatiana, Mak, Robert H, Miller, Roy, Montier, Tristan, Moore, Fiona, Nevo, Nathalie, Pouly, Daniel, Rocca, Celine J, Thomas, Lucie, Zhang, Jinzhong   +16 more
core  

Mechanism of valproic acid‐induced Fanconi syndrome involves mitochondrial dysfunction and oxidative stress in rat kidney

Nephrology, 2018
R. Heidari, Faezeh Jafari, Forouzan Khodaei, Babak Shirazi Yeganeh, H. Niknahad   +4 more
semanticscholar   +1 more source

Successful treatment of proximal renal tubular acidosis and Fanconi syndrome with vitamin D replacement

, 2016
Syed Ahsan Ali, Muhammad Usman Tariq
openalex   +1 more source

New ideas for the diagnosis and treatment of Fanconi syndrome: a pilot study

, 2013
Shaofang Tang, Hongtao Li, Mei Zhu, Zhongshu Ma, Ming-cai Qiu   +4 more
openalex   +1 more source

Understanding the Role of GLUT2 in Dysglycemia Associated with Fanconi–Bickel Syndrome [PDF]

, 2022
Sanaa Sharari, Basirudeen Syed Ahamed Kabeer, Idris Mohammed, Basma Haris, Igor Pavlovski, Iman Hawari, Ajaz A. Bhat, Mohammed Toufiq, Sara Tomei, Rebecca Mathew, Najeeb Syed, Sabah Nisar, Selma Maacha, Jean-Charles Grivel, Damien Chaussabel, Johan Ericsson, Khalid Hussain   +16 more
openalex   +1 more source

Hyperamino-aciduria in Lignac-Fanconi Disease, in Galactosaemia and in an Obscure Syndrome [PDF]

, 1954
Horst Bickel, D. C. Thursby-Pelham
openalex   +1 more source

Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.

Journal of the American Society of Nephrology, 2018
M. Reichold, E. Klootwijk, J. Reinders, E. Otto, M. Milani, Carsten Broeker, C. Laing, J. Wiesner, S. Devi, Weibin Zhou, R. Schmitt, I. Tegtmeier, C. Sterner, Hannes Doellerer, K. Renner, P. Oefner, K. Dettmer, Johann M B Simbürger, R. Witzgall, H. Stanescu, Simona Dumitriu, D. Iancu, Vaksha Patel, M. Mozere, M. Tekman, G. Jaureguiberry, N. Issler, Anne Kesselheim, S. Walsh, D. Gale, A. Howie, J. Martins, A. Hall, Michael Kasgharian, Kevin O'Brien, C. Ferreira, P. Atwal, Mahim Jain, A. Hammers, G. Charles-Edwards, C. Choe, D. Isbrandt, A. Cebrian-Serrano, B. Davies, R. Sandford, C. Pugh, D. Konecki, S. Povey, D. Bockenhauer, U. Lichter-Konecki, W. Gahl, R. Unwin, R. Warth, R. Kleta   +53 more
semanticscholar   +1 more source