Nonuniform deficiency of hexosaminidase A in tissues and fluids of two unrelated individuals

Serum samples from two unrelated, clinically normal individuals lacked detectable hexosaminidase A by heat inactivation and electrophoretic analysis. In contrast, 15 and 17% of the hexosaminidase in their leukocytes and 23 and 26% of the hexosaminidase of their cultured fibroblasts had the heat stab...

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Veröffentlicht in:	Pediatric research 1982-03, Vol.16 (3), p.232-237
Hauptverfasser:	Thomas, G H, Raghavan, S, Kolodny, E H, Frisch, A, Neufeld, E F, O'Brien, J S, Reynolds, L W, Miller, C S, Shapiro, J, Kazazian, Jr, H H, Heller, R H
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Amniotic Fluid - analysis Cells, Cultured Electrophoresis Female Fibroblasts - analysis Fibroblasts - enzymology G(M2) Ganglioside - analysis G(M2) Ganglioside - metabolism Hexosaminidases - analysis Hexosaminidases - blood Hexosaminidases - deficiency Humans In Vitro Techniques Infant Leukocytes - enzymology Male Skin - enzymology
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