Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins)

Authors: H. Mosbah, B. Donadille, C. Vatier, S. Janmaat, M. Atlan, C. Badens, P. Barat, S. Béliard, J. Beltrand, R. Ben Yaou, E. Bismuth, F. Boccara, B. Cariou, M. Chaouat, G. Charriot, S. Christin-Maitre, M. De Kerdanet, B. Delemer, E. Disse, N. Dubois, B. Eymard, B. Fève, O. Lascols, P. Mathurin, E. Nobécourt, A. Poujol-Robert, G. Prevost, P. Richard, J. Sellam, I. Tauveron, D. Treboz, B. Vergès, V. Vermot-Desroches, K. Wahbi, I. Jéru, M. C. Vantyghem, C. Vigouroux

Source: Orphanet Journal of Rare Diseases, Vol 17, Iss S1, Pp 1-23 (2022)

Subject Terms: Type 2 familial partial lipodystrophy, Dunnigan syndrome, Dunnigan disease, Insulin-resistant diabetes, Diagnosis, Recommendation, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/c3278822ae464ece9712cedafbbea00f

New KCNN4 Variants Associated With Anemia: Stomatocytosis Without Erythrocyte Dehydration

Authors: B. Allegrini, S. Jedele, L. David Nguyen, M. Mignotet, R. Rapetti-Mauss, C. Etchebest, O. Fenneteau, A. Loubat, A. Boutet, C. Thomas, J. Durin, A. Petit, C. Badens, L. Garçon, L. Da Costa, H. Guizouarn

Source: Frontiers in Physiology, Vol 13 (2022)

Subject Terms: Hereditary Xerocytosis, Stomatocytosis, red blood cell, Gardos, KCNN4, Physiology, QP1-981

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fphys.2022.918620/full; https://doaj.org/toc/1664-042X

Access URL: https://doaj.org/article/9f96cb3683b14fe284caf57a0a28f560

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