Heterogeneity of carboxypeptidase activity in infantile-onset galactosialidosis.
作者： P.T. Ozand , G.G. Gascon
DOI: 10.1177/08830738920070010611
关键词: Carboxypeptidase activity 、 Carboxypeptidase 、 Pathology 、 Infantile onset 、 Galactosialidosis 、 Medicine 、 Age of onset
摘要: The clinical presentation and laboratory findings in seven patients with neonatal/infantile-onset galactosialidosis are presented. We detected no carboxypeptidase activity two of these patients, while an enzyme different apparent Km, or both Km Vm, were found five others. could not establish a correlation between the biochemical characteristics age onset, progression, other features galactosialidosis. (J Child Neurol 1992;7(Suppl):S31-S40).
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