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Literature DB >> 852874

Serum hexosaminidase activity in I-cell disease carriers.

Abstract

Serum heat stable hexosaminidase activities are used to identify 47-I-cell disease heterozygotes in a large kindred. Serum beta-hexosaminidase isozyme patterns in normal individuals, Tay-Sachs disease carriers, I-cell disease carriers and in cord blood samples are compared.

Entities: Disease Gene

Mesh：

Substances：

Year: 1977 PMID： 852874 DOI： 10.1007/BF00446281

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

36 in total

1. "I-cell" disease: leakage of lysosomal enzymes into extracellular fluids.

Authors: U Wiesmann; F Vassella; N Herschkowitz
Journal: N Engl J Med Date: 1971-11-04 Impact factor: 91.245

2. Clinical, biochemical, and ultrastructural studies in a case of chondrodystrophy presenting the I-cell phenotype in tissue culture.

Authors: M Tondeur; E Vamos-Hurwitz; S Mockel-Pohl; J P Dereume; N Cremer; H Loeb
Journal: J Pediatr Date: 1971-09 Impact factor: 4.406

1. Five related Lebanese individuals with high plasma lysosomal hydrolases: a new defect in mannose-6-phosphate receptor recognition?

Authors: D Alexander; G Dudin; F Talj; F Bitar; M Deeb; A Khudr; M Abboud; V M Der Kaloustian
Journal: Am J Hum Genet Date: 1984-09 Impact factor: 11.025

1 in total

Serum hexosaminidase activity in I-cell disease carriers.

1. "I-cell" disease: leakage of lysosomal enzymes into extracellular fluids.

2. Clinical, biochemical, and ultrastructural studies in a case of chondrodystrophy presenting the I-cell phenotype in tissue culture.

3. X-chromosome linked inheritance of elevated thyroxine-binding globulin.

4. Cultured skin fibroblasts in disorders of glycoprotein catabolism and I-cell disease.

5. Letter: Screening for mucolipidosis.

6. Acid hydrolases in the serum and liver in mucopolysaccharidoses types I and 3.

7. Multiple lysosomal enzyme deficiency due to enzyme leakage?

8. Family with a high activity of serum diamine oxidase.

9. Mucolipidosis II and III: different residual activity of beta-galactosidase in cultured fibroblasts.

10. I-cell disease (mucolipidosis type II). Serum hydrolases in obligate heterozygotes.

1. Five related Lebanese individuals with high plasma lysosomal hydrolases: a new defect in mannose-6-phosphate receptor recognition?