Literature DB >> 484551

Apparent hexosaminidase B deficiency in two healthy members of a pedigree.

P Hechtman, A Rowlands.   

Abstract

A family is described in which all members have decreased serum and leukocyte hexosaminidase activity. Two individuals, the mother and the younger daughter, have a normal ratio of hexosaminidase B (HEX B) to total hexosaminidase, but their serum enzymes display respectively partial or complete lability to heat. It is proposed that the proband is a double heterozygote for the Sandhoff allele and for an allele producing thermolabile beta subunits.

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Year:  1979        PMID： 484551      PMCID： PMC1685885     

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


  22 in total

1.  DISC ELECTROPHORESIS. II. METHOD AND APPLICATION TO HUMAN SERUM PROTEINS.

Authors:  B J DAVIS
Journal:  Ann N Y Acad Sci       Date:  1964-12-28       Impact factor: 5.691

2.  HISTOCHEMICAL DEMONSTRATION OF N-ACETYL-BETA-GLUCOSAMINIDASE EMPLOYING NAPHTHOL AS-BI N-ACETYL-BETA -GLUCOSAMINIDE AS SUBSTRATE.

Authors:  M HAYASHI
Journal:  J Histochem Cytochem       Date:  1965 May-Jun       Impact factor: 2.479

3.  Studies on glucosaminidase. 4. The fluorimetric assay of N-acetyl-beta-glucosaminidase.

Authors:  D H LEABACK; P G WALKER
Journal:  Biochem J       Date:  1961-01       Impact factor: 3.857

4.  Disk electrophoresis of basic proteins and peptides on polyacrylamide gels.

Authors:  R A REISFELD; U J LEWIS; D E WILLIAMS
Journal:  Nature       Date:  1962-07-21       Impact factor: 49.962

5.  Protein measurement with the Folin phenol reagent.

Authors:  O H LOWRY; N J ROSEBROUGH; A L FARR; R J RANDALL
Journal:  J Biol Chem       Date:  1951-11       Impact factor: 5.157

6.  Tay-Sachs disease with altered beta-hexosaminidase B: a new variant?

Authors:  T Momoi; M Sudo; K Tanioka; Y Nakao
Journal:  Pediatr Res       Date:  1978-02       Impact factor: 3.756

7.  Absence of -N-acetyl-D-hexosaminidase A activity in a healthy woman.

Authors:  J Vidgoff; N R Buist; J S O'Brien
Journal:  Am J Hum Genet       Date:  1973-07       Impact factor: 11.025

8.  The use of biochemical data in screening for mutant alleles and in genetic counselling.

Authors:  R J Gold; U R Maag; J L Neal; C R Scriver
Journal:  Ann Hum Genet       Date:  1974-01       Impact factor: 1.670

9.  Carrier detection in Sandhoff disease.

Authors:  J A Lowden; E J Ives; D L Keene; A L Burton; M A Skomorowski; F Howard
Journal:  Am J Hum Genet       Date:  1978-01       Impact factor: 11.025

10.  Human hexosaminidase isozymes: chromatographic separation as an aid to heterozygote identification.

Authors:  S Nakagawa; S Kumin; H M Nitowsky
Journal:  Clin Chim Acta       Date:  1977-03-01       Impact factor: 3.786
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  3 in total

1.  Hereditary heat-labile hexosaminidase B: a variant whose homozygotes synthesize a functional HEX A.

Authors:  R Navon; R Kopel; J Nutman; A Frisch; E Conzelmann; K Sandhoff; A Adam
Journal:  Am J Hum Genet       Date:  1985-01       Impact factor: 11.025

2.  Maple syrup urine disease: two different forms within a single family.

Authors:  J Frézal; O Amédée-Manesme; G Mitchell; S Heuertz; F Rey; J Rey; J M Saudubray
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

3.  Hereditary heat-labile hexosaminidase B: its implication for recognizing Tay-Sachs genotypes.

Authors:  R Navon; J Nutman; R Kopel; L Gaber; N Gadoth; B Goldman; M Nitzan
Journal:  Am J Hum Genet       Date:  1981-11       Impact factor: 11.025
  3 in total

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