Literature DB >> 4708053

Analysis of N-acetyl- -D-glucosaminidase in mucolipidosis II (I-cell disease).

K K Lie, G H Thomas, H A Taylor, J A Sensenbrenner.   

Abstract

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Year:  1973        PMID： 4708053     DOI： 10.1016/0009-8981(73)90433-6

Source DB:  PubMed          Journal:  Clin Chim Acta        ISSN： 0009-8981            Impact factor:   3.786


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  11 in total

1.  Accumulation of [3H]sialyl-conjugates in sialidosis (sialidase-deficient) fibroblasts cultured in the presence of [3H]-N-acetylmannosamine.

Authors:  J Scocca; G H Thomas; L Reynolds; C S Miller
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

2.  Serum hexosaminidase activity in I-cell disease carriers.

Authors:  J Vidgoff; N R Buist
Journal:  Hum Genet       Date:  1977-05-10       Impact factor: 4.132

3.  The effects of sucrose loading on lysosomal hydrolases.

Authors:  T Kato; S Okada; T Yutaka; H Yabuuchi
Journal:  Mol Cell Biochem       Date:  1984       Impact factor: 3.396

4.  Characterization of beta-D-galactosidase isolated from I-cell disease liver.

Authors:  E W Holmes; A L Miller; R G Frost; J S O'Brien
Journal:  Am J Hum Genet       Date:  1975-11       Impact factor: 11.025

5.  Compartmental distribution of beta-hexosaminidase isoenzymes in I-cell fibroblasts.

Authors:  G D Vladutiu; M C Rattazzi
Journal:  Biochem J       Date:  1981-06-15       Impact factor: 3.857

6.  I-cell disease. A hypothesis for the structure of the carbohydrate recognition site on beta-D-N-acetylhexosaminidase.

Authors:  G D Vladutiu
Journal:  Biochem J       Date:  1978-05-01       Impact factor: 3.857

7.  Isoenzymes of serum N-acetyl-beta-D-glucosaminidase in the I cell disease heterozygote.

Authors:  A F Van Elsen; J G Leroy; A L Vercruyssen
Journal:  Hum Genet       Date:  1976-01-28       Impact factor: 4.132

8.  Two clonal cell populations (mosaicism) in a 46,XY male with mucolipidosis II (I-cell disease)--an autosomal recessive disorder.

Authors:  G H Thomas; C S Miller; K E Toomey; L W Reynolds; M L Reitman; A Varki; A Vannier; K N Rosebaum; W B Bias; B H Schofield
Journal:  Am J Hum Genet       Date:  1982-07       Impact factor: 11.025

9.  I-cell disease.

Authors:  Z M Patel; L M Ambani
Journal:  J Inherit Metab Dis       Date:  1980       Impact factor: 4.982

10.  Electrophoretic abnormalities of lysosomal enzymes in mucolipidosis fibroblast lines.

Authors:  M J Champion; T B Shows
Journal:  Am J Hum Genet       Date:  1977-03       Impact factor: 11.025
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