Literature DB >> 99090

I-cell disease.

P J Milla.   

Abstract

A boy with fatal I-cell disease is reported. Defective ganglioside and glycoprotein metabolism is due to deficient neuraminidase activity.

Entities:  

Mesh：

Year:  1978        PMID： 99090      PMCID： PMC1544962          DOI： 10.1136/adc.53.6.513

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


  7 in total

1.  Prenatal diagnosis and fetal pathology of I-cell disease (mucolipidosis type II).

Authors:  P Aula; J Rapola; S Autio; K Raivio; O Karjalainen
Journal:  J Pediatr       Date:  1975-08       Impact factor: 4.406

2.  A hypothesis for I-cell disease: defective hydrolases that do not enter lysosomes.

Authors:  S Hickman; E F Neufeld
Journal:  Biochem Biophys Res Commun       Date:  1972-11-15       Impact factor: 3.575

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.  Deficit in neuraminidase associated with mucolipidosis II (I-cell disease).

Authors:  G Strecker; J C Michalski; J Montreuil; J P Farriaux
Journal:  Biomedicine       Date:  1976-09-30

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

Authors:  U N Wiesmann; F Vassella; N N Herschkowitz
Journal:  Acta Paediatr Scand       Date:  1974-01
  7 in total

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