Literature DB >> 5547820

Detection of Tay-Sachs disease heterozygotes by assay of hexosaminidase A in serum and leukocytes.

Y Suzuki, P H Berman, K Suzuki.   

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Year:  1971        PMID: 5547820     DOI: 10.1016/s0022-3476(71)80467-5

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


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  8 in total

Review 1.  Basic findings and current developments in sphingolipidoses.

Authors:  H Pilz; R Heipertz; D Seidel
Journal:  Hum Genet       Date:  1979-03-12       Impact factor: 4.132

2.  Chromatofocusing coupled with automated assay for beta-hexosaminidase isoenzymes in GM2 gangliosidosis.

Authors:  A Orlacchio; C Maffei; C Emiliani; G V Coppa; L Felici
Journal:  Experientia       Date:  1985-04-15

3.  Screening for carriers of Tay-Sachs disease: A community project.

Authors:  J A Lowden; S Zuker; A J Wilensky; M A Skomorowski
Journal:  Can Med Assoc J       Date:  1974-08-03       Impact factor: 8.262

4.  Apparent deficiency of hexosaminidase A in healthy members of a family with Tay-Sachs disease.

Authors:  R Navon; B Padeh; A Adam
Journal:  Am J Hum Genet       Date:  1973-05       Impact factor: 11.025

5.  Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program.

Authors:  B H Paw; P T Tieu; M M Kaback; J Lim; E F Neufeld
Journal:  Am J Hum Genet       Date:  1990-10       Impact factor: 11.025

6.  Studies on GM1-gangliosidosis, type II.

Authors:  V Patel; H H Goebel; I Watanabe; W Zeman
Journal:  Acta Neuropathol       Date:  1974       Impact factor: 17.088

7.  GM2-gangliosidosis, AB variant: clinico-pathological study of a case.

Authors:  C M de Baecque; K Suzuki; I Rapin; A B Johnson; D L Whethers
Journal:  Acta Neuropathol       Date:  1975-12-19       Impact factor: 17.088

8.  Tay-Sachs disease heterozygote detection in Brazil: comparison between tears and leukocytes as beta-hexosaminidase A source.

Authors:  M S Buchalter; C M Wannmacher; M Wajner
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

  8 in total

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