Literature DB >> 4361810

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

J G Leroy, A F Van Elsen.   

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Year:  1973        PMID： 4361810     DOI： 10.1007/bf00284846

Source DB:  PubMed          Journal:  Humangenetik        ISSN： 0018-7348


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  13 in total

1.  GOLGI APPARATUS AND LYSOSOMES.

Authors:  A B NOVIKOFF; E ESSNER; N QUINTANA
Journal:  Fed Proc       Date:  1964 Sep-Oct

2.  The assay of arylsulphatases A and B in human urine.

Authors:  H BAUM; K S DODGSON; B SPENCER
Journal:  Clin Chim Acta       Date:  1959-05       Impact factor: 3.786

3.  "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

4.  I-cell disease: a clinical picture.

Authors:  J G Leroy; J W Spranger; M Feingold; J M Opitz; A C Crocker
Journal:  J Pediatr       Date:  1971-09       Impact factor: 4.406

5.  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

6.  Multiple lysosomal enzyme deficiency due to enzyme leakage?

Authors:  U N Wiesmann; J Lightbody; F Vassella; N N Herschkowitz
Journal:  N Engl J Med       Date:  1971-01-14       Impact factor: 91.245

Review 7.  Functions of lysosomes.

Authors:  C De Duve; R Wattiaux
Journal:  Annu Rev Physiol       Date:  1966       Impact factor: 19.318

8.  Stimulation of acid beta-galactosidase activity by chloride ions.

Authors:  M W Ho; J S O'Brien
Journal:  Clin Chim Acta       Date:  1970-11       Impact factor: 3.786

9.  Tay-sachs disease. Detection of heterozygotes and homozygotes by serum hexosaminidase assay.

Authors:  J S O'Brien; S Okada; A Chen; D L Fillerup
Journal:  N Engl J Med       Date:  1970-07-02       Impact factor: 91.245

10.  Mutant enzymatic and cytological phenotypes in cultured human fibroblasts.

Authors:  J G Leroy; R I Demars
Journal:  Science       Date:  1967-08-18       Impact factor: 47.728
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  6 in total

1.  I-cell disease (mucolipidosis II):a report on its pathology.

Authors:  J J Martin; J G Leroy; J P Farriaux; G Fontaine; R J Desnick; A Cabello
Journal:  Acta Neuropathol       Date:  1975-12-30       Impact factor: 17.088

Review 2.  Mucopolysaccharidoses and mucolipidoses.

Authors:  F Van Hoof
Journal:  J Clin Pathol Suppl (R Coll Pathol)       Date:  1974

3.  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

4.  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

5.  Chromatographic components of beta-hexosaminidase in I-cell disease (mucolipidosis II).

Authors:  A F Van Elsen; J G Leroy
Journal:  Hum Genet       Date:  1979-04-05       Impact factor: 4.132

6.  Demonstration of the heterozygous state for I-cell disease and pseudo-Hurler polydystrophy by assay of N-acetylglucosaminylphosphotransferase in white blood cells and fibroblasts.

Authors:  A Varki; M L Reitman; A Vannier; S Kornfeld; J H Grubb; W S Sly
Journal:  Am J Hum Genet       Date:  1982-09       Impact factor: 11.025
  6 in total

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