Intolérance aux protéines dibasiques avec lysinurie: aspect caractéristique de l'atteinte médullaire
Tài liệu tham khảo
Simell, 1989, Lysinuric protein intolerance and other cationic aminoacidurias, 2497
Di Rocco, 1993, Role of haematological, pulmonary and renal complications in the long-term prognosis of patients with lysinuric protein intolerance, Eur J Pediatr, 152, 437, 10.1007/BF01955906
Albert, 1992, Macrophage activation syndromes, Nouv Rev Fr Hématol, 34, 435
Quattrin, 1971, Una nuova malattia tesaurismosica: Mucopolisaccaridosi genotipica disemopoietica, Minerva Pediatr, 23, 672
Andria, 1981, Lysinuric protein intolerance: Possible genetic heterogeneity?, J Inher Metab Dis, 4, 151, 10.1007/BF02263635
Behbehani, 1983, Lysinurische Proteinintoleranz, Monatsschr Kinderheilkt, 131, 784
Pärenti, 1995, Lysinuric protein intolerance characterized by bone marrow abnormalities and severe clinical course, J Pediatr, 126, 246, 10.1016/S0022-3476(95)70552-X
Saudubray, 1995, Manifestations hématologiques des maladies héréditaires du métabolisme, 409
Rajantie, 1980, Changes in peripheral blood cells and serum ferritin in lysinuric protein intolerance, Acta Paediatr Scand, 69, 741, 10.1111/j.1651-2227.1980.tb07143.x
Kekomäki, 1967, Familial protein intolerance with deficient transport of basic amino acids: An analysis of 10 patients, Acta Paediatr Scand, 56, 617, 10.1111/j.1651-2227.1967.tb15988.x
Parini, 1991, A difficult diagnosis of lysinuric protein intolerance: association with glucose-6-phosphate dehydrogenase deficiency, J Inherit Metab Dis, 14, 833, 10.1007/BF01799959