These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: [Hereditary lysosomal diseases in Mexico. II. Laboratory diagnosis of mucopolysaccharidosis and mucolipidosis].
    Author: Zetina ME, Gonzalez-Noriega A.
    Journal: Rev Invest Clin; 1990; 42(3):165-73. PubMed ID: 2125355.
    Abstract:
    Methods suitable for the diagnosis of the mucopolysaccharidoses and mucolipidosis using urine, serum and leucocytes are presented. The methodology includes a screening technique for the mucopolysaccharidoses, a determination of glycosaminoglycans excreted in urine, serum and leucocyte enzymatic determinations for deficient lysosomal enzymes in lysosomal storage diseases. Their use is validated in the diagnosis of 19 patient with mucopolysaccharidoses and 5 with mucolipidoses, and to establish a carrier state in 10 close relatives.
    [Abstract] [Full Text] [Related] [New Search]