Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Fensom, Anthony H."'
Autor:
Santos Cláudia Maria Carvalho dos, Correia Patrícia Santana, Rosa Antônio Abílio Santa, Vaniazzi Elde, Coelho Janice Carneiro, Burin Maira Graeff, Giugliani Roberto, Fensom Anthony H., Oliveira Cesário Paulo Honório de, Oliveira Maria Lúcia Costa de, Llerena Jr. Juan Clinton
Publikováno v:
Genetics and Molecular Biology, Vol 21, Iss 4 (1998)
We present the first case of an early infantile form of galactosialidosis among Brazilians. This very rare and severe lysosomal storage disease has only a dozen patients clearly diagnosed worldwide. Clinical, pathological and biochemical features wer
Externí odkaz:
https://doaj.org/article/37d536d2271b47bda24eefe7d60daac7
Autor:
Millat, Gilles, Chikh, Karim, Naureckiene, Saule, Sleat, David E., Fensom, Anthony H., Higaki, Katsumi, Elleder, Milan, Lobel, Peter, Vanier, Marie T.
Publikováno v:
In The American Journal of Human Genetics 2001 69(5):1013-1021
Autor:
Millat, Gilles, Marçais, Christophe, Tomasetto, Catherine, Chikh, Karim, Fensom, Anthony H., Harzer, Klaus, Wenger, David A., Ohno, K., Vanier, Marie T.
Publikováno v:
In The American Journal of Human Genetics 2001 68(6):1373-1385
Autor:
Drousiotou, Anthi, Stylianidou, Goula, Anastasiadou, Violetta, Christopoulos, George, Mavrikiou, Eleni, Georgiou, Theodoros, Kalakoutis, Gabriel, Oladimeji, Adebayo, Hara, Yoji, Suzuki, Kunihiko, Furihata, Kenichi, Ueno, Ichiro, Ioannou, Panayiotis A., Fensom, Anthony H.
Publikováno v:
Human Genetics; Jul2000, Vol. 107 Issue 1, p12-17, 6p
Autor:
Robinson, Richard O., Fensom, Anthony H., Lake, Brian D., Robinson, R O, Fensom, A H, Lake, B D
Publikováno v:
Developmental Medicine & Child Neurology; 1997, Vol. 39 Issue 3, p153-157, 5p
Autor:
Mayer, Fabiana Quoos, Pereira, Fernanda dos Santos, Fensom, Anthony H., Slade, Christina, Matte, Ursula, Giugliani, Roberto
Publikováno v:
In Molecular Genetics and Metabolism 2009 96(3):148-148
Publikováno v:
Genetic Testing; December 19, 2000, Vol. 4 Issue: 4 p351-358, 8p
Autor:
Steinberg, Steven J., Elçioglu, Nursel, Slade, Christina M., Sankaralingam, Arun, Dennis, Nicholas, Mohammed, Shehla N., Fensom, Anthony H.
Publikováno v:
American Journal of Medical Genetics. Part A; 27 August 1999, Vol. 85 Issue: 5 p502-510, 9p
Autor:
Adinolfi, Matteo, Mccoll, Ian, Chase, Dinae, Fensom, Anthony H., Welsh, Ken, Brown, Susan, Marsh, Jane, Thick, Michael, Dean, Michael
Publikováno v:
Transplantation; Sep1986, Vol. 42 Issue 3, p271-273, 3p
Autor:
Fensom, Anthony H.
Publikováno v:
Developmental Medicine & Child Neurology; 1975, Vol. 17 Issue 2, p253-254, 2p