Literature DB >> 5360584

Pompe's disease: detection of heterozygotes by lymphocyte stimulation.

K Hirschhorn, H L Nadler, W I Waithe, B I Brown, R Hirschhorn.   

Abstract

A technique has been developed for the detection of inborn errors by multiple enzyme analysis of lymphocytes stimulated by phytohemagglutinin. Its practicality has been demonstrated in Pompe's disease in which there is a deficiency of acid alpha-1,4-glucosidase (E.C.3.2.1.20).

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Year:  1969        PMID： 5360584     DOI： 10.1126/science.166.3913.1632

Source DB:  PubMed          Journal:  Science        ISSN： 0036-8075            Impact factor:   47.728


  7 in total

1.  The nature of the residual alpha-mannosidase in plasma in bovine mannosidosis.

Authors:  B G Winchester; N S Van-de-Water; R D Jolly
Journal:  Biochem J       Date:  1976-07-01       Impact factor: 3.857

2.  Reversal of UDP-galactose 4-epimerase deficiency of human leukocytes in culture.

Authors:  B Mitchell; E Haigis; B Steinmann; R Gitzelmann
Journal:  Proc Natl Acad Sci U S A       Date:  1975-12       Impact factor: 11.205

Review 3.  Inborn errors of metabolism: principles and their applications.

Authors:  L Pinksy
Journal:  Can Med Assoc J       Date:  1972-03-18       Impact factor: 8.262

4.  Blood cells as markers for metabolic disorders.

Authors:  E Beutler
Journal:  Blut       Date:  1985-12

5.  Ultrastructural localization of a lysosomal enzyme in resin-embedded lymphocytes.

Authors:  G Bou-Gharios; J Moss; I Olsen; T Partridge
Journal:  Histochemistry       Date:  1988

6.  Acid maltase levels in muscle in heterozygous acid maltase deficiency and in non-weak and neuromuscular disease controls.

Authors:  A G Engel; M R Gomez
Journal:  J Neurol Neurosurg Psychiatry       Date:  1970-12       Impact factor: 10.154

7.  Myopathies due to enzyme deficiencies.

Authors:  F Cornelio; S Di Donato
Journal:  J Neurol       Date:  1985       Impact factor: 4.849
  7 in total

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