TY - JOUR
T1 - Analysis of n-acetyl-β-d-glucosaminidase in mucolipidosis II (I-cell disease)
AU - Lie, Kari Kveim
AU - Thomas, George H.
AU - Taylor, Harold A.
AU - Sensenbrenner, Judith A.
N1 - Funding Information:
This study was supported by project grant No. 917 from Maternal and Child Health Services, Department of H.E.W.
Copyright:
Copyright 2014 Elsevier B.V., All rights reserved.
PY - 1973/5/18
Y1 - 1973/5/18
N2 - Evidence is presented which indicates that the 15-fold increase in N-acetyl-β-d-glucosaminidase activity in the serum of a patient with mucolipidosis II (I-cell disease) resides in two enzyme forms having the electrophoretic characteristics of the bands normally seen in control serums. The increase, however, was most prominent (28 × normal) in the heat stable form (I2 or P) of the enzyme. In contrast, the decreased activity in the fibroblast cells from the same patient was found to be associated with multiple enzyme forms of N-acetyl-β-d-glucosaminidase clearly distinguishable from those normally seen in serum or fibroblast cells obtained from normal controls.
AB - Evidence is presented which indicates that the 15-fold increase in N-acetyl-β-d-glucosaminidase activity in the serum of a patient with mucolipidosis II (I-cell disease) resides in two enzyme forms having the electrophoretic characteristics of the bands normally seen in control serums. The increase, however, was most prominent (28 × normal) in the heat stable form (I2 or P) of the enzyme. In contrast, the decreased activity in the fibroblast cells from the same patient was found to be associated with multiple enzyme forms of N-acetyl-β-d-glucosaminidase clearly distinguishable from those normally seen in serum or fibroblast cells obtained from normal controls.
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U2 - 10.1016/0009-8981(73)90433-6
DO - 10.1016/0009-8981(73)90433-6
M3 - Article
C2 - 4708053
AN - SCOPUS:0015874368
SN - 0009-8981
VL - 45
SP - 243
EP - 248
JO - Clinica Chimica Acta
JF - Clinica Chimica Acta
IS - 3
ER -