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pro vyhledávání: '"Kurt Hirschorn"'
Autor:
Boris G. Kousseff, Paula W. Brill, Kurt Hirschorn, Beatrice Kaplan, Lotte Strauss, Richard E. Rosenfield, Nicholas G. Beratis
Publikováno v:
Pediatrics. 57:205-213
Two siblings, 9 and 4½ years old, had α-L-fucosidase deficiency, angiokeratoma, progressive psychomotor retardation, neurologic signs, coarse facial features, and dysostosis multiplex. It appears that genetic heterogeneity is present in fucosidosis