Literature DB >> 4275378

Mucolipidosis II (I-cell disease). A clinical and biochemical study.

U N Wiesmann, F Vassella, N N Herschkowitz.   

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Year:  1974        PMID： 4275378     DOI： 10.1111/j.1651-2227.1974.tb04343.x

Source DB:  PubMed          Journal:  Acta Paediatr Scand        ISSN： 0001-656X


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  5 in total

1.  I-cell disease.

Authors:  P J Milla
Journal:  Arch Dis Child       Date:  1978-06       Impact factor: 3.791

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.  Demonstration of altered acidic hydrolases in fibroblasts from patients with mucolipidosis II by lectin titration.

Authors:  R Rousson; Y Ben-Yoseph; M B Fiddler; H L Nadler
Journal:  Biochem J       Date:  1979-06-15       Impact factor: 3.857

4.  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

5.  Late infantile metachromatic leucodystrophy (MLD). Clinical and diagnostic evaluation in a typical case.

Authors:  L N Rossi; F Vassella; A Bischoff; U N Wiesmann; N Herschkowitz
Journal:  J Neurol       Date:  1975-10-24       Impact factor: 4.849
  5 in total

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