Literature DB >> 25409

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

T Momoi, M Sudo, K Tanioka, Y Nakao.   

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Year:  1978        PMID: 25409     DOI: 10.1203/00006450-197802000-00001

Source DB:  PubMed          Journal:  Pediatr Res        ISSN: 0031-3998            Impact factor:   3.756


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  7 in total

Review 1.  Biochemistry and genetics of gangliosidoses.

Authors:  K Sandhoff; H Christomanou
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132

2.  Diagnosis and carrier detection of Tay-Sachs disease: direct determination of hexosaminidase A using 4-methylumbelliferyl derivatives of beta-N-acetylglucosamine-6-sulfate and beta-N-acetylgalactosamine-6-sulfate.

Authors:  Y Ben-Yoseph; J E Reid; B Shapiro; H L Nadler
Journal:  Am J Hum Genet       Date:  1985-07       Impact factor: 11.025

3.  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

4.  Presence of an atypical thermolabile species of beta-hexosaminidase B in metastatic-tumour tissue of human liver.

Authors:  J A Alhadeff; R T Holzinger
Journal:  Biochem J       Date:  1982-01-01       Impact factor: 3.857

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

Authors:  P Hechtman; A Rowlands
Journal:  Am J Hum Genet       Date:  1979-07       Impact factor: 11.025

6.  Thermal activation of hexosaminidase A in a genetic compound with Tay-Sachs disease.

Authors:  Y Ben-Yoseph; M S Baylerian; T Momoi; H L Nadler
Journal:  J Inherit Metab Dis       Date:  1983       Impact factor: 4.982

7.  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

  7 in total

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