Literature DB >> 5651108

Deficient hexozaminidase activity in an exceptional case of Tay-Sachs disease with additional storage of kidney globoside in visceral organs.

K Sandhoff, U Andreae, H Jatzkewitz.   

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Year:  1968        PMID: 5651108     DOI: 10.1016/0024-3205(68)90024-6

Source DB:  PubMed          Journal:  Life Sci        ISSN: 0024-3205            Impact factor:   5.037


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  43 in total

1.  N-acetyl-beta-d-glucosaminidase in marmoset kidney, serum and urine.

Authors:  R J Pierce; R G Price; J S Fowler
Journal:  Biochem J       Date:  1978-12-01       Impact factor: 3.857

Review 2.  Mouse chromosome 13.

Authors:  M J Justice; D A Stephenson
Journal:  Mamm Genome       Date:  1991       Impact factor: 2.957

Review 3.  Progress in investigations of sphingolipidoses.

Authors:  M Adachi; L Schneck; B W Volk
Journal:  Acta Neuropathol       Date:  1978-08-07       Impact factor: 17.088

4.  Purification and properties of human kidney-cortex hexosaminidases A and B.

Authors:  J E Wiktorowicz; Y C Awasthi; A Kurosky; S K Srivastava
Journal:  Biochem J       Date:  1977-07-01       Impact factor: 3.857

5.  Studies on human N-acetyl-Beta-d-hexosaminidase C separated from neonatal brain.

Authors:  G T Besley; D M Broadhead
Journal:  Biochem J       Date:  1976-04-01       Impact factor: 3.857

6.  Metabolomics profiling reveals profound metabolic impairments in mice and patients with Sandhoff disease.

Authors:  Li Ou; Michael J Przybilla; Chester B Whitley
Journal:  Mol Genet Metab       Date:  2018-09-14       Impact factor: 4.797

Review 7.  The biochemical genetics of the hexosaminidase system in man.

Authors:  E Beutler
Journal:  Am J Hum Genet       Date:  1979-03       Impact factor: 11.025

8.  Sandhoff disease heterozygote detection: a component of population screening for Tay-Sachs disease carriers. I. Statistical methods.

Authors:  R M Cantor; J S Lim; C Roy; M M Kaback
Journal:  Am J Hum Genet       Date:  1985-09       Impact factor: 11.025

9.  Independent loss of human hexosaminidases A and B in man-chinese hamster somatic cell hybrids.

Authors:  H van Someren
Journal:  Humangenetik       Date:  1973-04-16

10.  The AB-variant of GM2-gangliosidosis. Clinical, biochemical, and pathological studies of two patients.

Authors:  J E Goldman; T Yamanaka; I Rapin; M Adachi; K Suzuki; K Suzuki
Journal:  Acta Neuropathol       Date:  1980       Impact factor: 17.088

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