Literature DB >> 426387

[Three cases of mucolipidosis type III (author's transl)].

J Torreblanca, M C Antelo, S García García, J García Consuegra, F Collado.   

Abstract

Three cases of mucolipidosis type III in three siblins ranging in age from 4 to 10 years are reported. One of them was severely involved; the other two in a lesser degree. The enzymatic studies performed are exposed, together with a discussion and interpretation of the findings. The concepts regarding the group of metabolic diseases among which mucolipidosis is nowadays included are reviewed. Some characteristics of the enzymatic disorder, origin of the disease, are finally commented.

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Year:  1979        PMID: 426387

Source DB:  PubMed          Journal:  An Esp Pediatr        ISSN: 0302-4342


  1 in total

1.  Mucolipidosis III is genetically heterogeneous.

Authors:  N K Honey; O T Mueller; L E Little; A L Miller; T B Shows
Journal:  Proc Natl Acad Sci U S A       Date:  1982-12       Impact factor: 11.205

  1 in total

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