Literature DB >> 2145759

Hexosaminidase--pseudodeficiency?

J Kappler, V Gieselmann, P Propping.   

Abstract

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Year:  1990        PMID： 2145759      PMCID： PMC1683685     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  4 in total

1.  Ashkenazi-Jewish and non-Jewish adult GM2 gangliosidosis patients share a common genetic defect.

Authors:  R Navon; E H Kolodny; H Mitsumoto; G H Thomas; R L Proia
Journal:  Am J Hum Genet       Date:  1990-04       Impact factor: 11.025

2.  Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase.

Authors:  B H Paw; M M Kaback; E F Neufeld
Journal:  Proc Natl Acad Sci U S A       Date:  1989-04       Impact factor: 11.205

3.  The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease.

Authors:  R Navon; R L Proia
Journal:  Science       Date:  1989-03-17       Impact factor: 47.728
  4 in total
  2 in total

1.  Cloning and sequence analysis of a cDNA encoding the alpha-subunit of mouse beta-N-acetylhexosaminidase and comparison with the human enzyme.

Authors:  T Beccari; J Hoade; A Orlacchio; J L Stirling
Journal:  Biochem J       Date:  1992-07-15       Impact factor: 3.857

2.  A Biochemical Platform to Define the Relative Specific Activity of IDUA Variants Identified by Newborn Screening.

Authors:  Seok-Ho Yu; Laura Pollard; Tim Wood; Heather Flanagan-Steet; Richard Steet
Journal:  Int J Neonatal Screen       Date:  2020-11-12
  2 in total

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