Nestor A Chamoles

Summary

Country: Argentina

Publications

  1. ncbi request reprint Hurler-like phenotype: enzymatic diagnosis in dried blood spots on filter paper
    N A Chamoles
    Laboratory of Neurochemistry, Uriarte 2383, 1425 Buenos Aires, Argentina
    Clin Chem 47:2098-102. 2001
  2. ncbi request reprint Gaucher and Niemann-Pick diseases--enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards
    Nestor A Chamoles
    Laboratory of Neurochemistry, Uriarte 2383, 1425, Buenos Aires, Argentina
    Clin Chim Acta 317:191-7. 2002
  3. ncbi request reprint Tay-Sachs and Sandhoff diseases: enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards
    Nestor A Chamoles
    Laboratory of Neurochemistry, Uriarte 2383, 1425, Buenos Aires, Argentina
    Clin Chim Acta 318:133-7. 2002
  4. ncbi request reprint Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper
    Nestor A Chamoles
    Laboratory of Neurochemistry, Uriarte 2383, Buenos Aires 1425, Argentina
    Clin Chim Acta 347:97-102. 2004

Detail Information

Publications4

  1. ncbi request reprint Hurler-like phenotype: enzymatic diagnosis in dried blood spots on filter paper
    N A Chamoles
    Laboratory of Neurochemistry, Uriarte 2383, 1425 Buenos Aires, Argentina
    Clin Chem 47:2098-102. 2001
    ..We describe methods for the assay of 8 lysosomal enzymes in dried blood spots on filter paper that allow screening for 12 lysosomal storage diseases that present with a Hurler-like phenotype...
  2. ncbi request reprint Gaucher and Niemann-Pick diseases--enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards
    Nestor A Chamoles
    Laboratory of Neurochemistry, Uriarte 2383, 1425, Buenos Aires, Argentina
    Clin Chim Acta 317:191-7. 2002
    ..We describe methods for the assay of acid beta-D-glucosidase, acid sphingomyelinase, chitotriosidase, and alpha-N-acetyl-galactosaminidase (NAGA) as a control enzyme in blood spots that were dried onto filter paper...
  3. ncbi request reprint Tay-Sachs and Sandhoff diseases: enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards
    Nestor A Chamoles
    Laboratory of Neurochemistry, Uriarte 2383, 1425, Buenos Aires, Argentina
    Clin Chim Acta 318:133-7. 2002
    ..For diagnosis, these enzymes are usually measured in plasma or extracts of leukocytes. We describe methods for the assay of hexosaminidase A and total hexosaminidase activities in dried blood spots (DBSs) on filter paper...
  4. ncbi request reprint Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper
    Nestor A Chamoles
    Laboratory of Neurochemistry, Uriarte 2383, Buenos Aires 1425, Argentina
    Clin Chim Acta 347:97-102. 2004
    ..However, these existing diagnostic methods are not suited for newborn screening. We developed an assay useful for newborn screening for glycogen storage disease II...