Literature DB >> 7306091

A new variant of type-AB GM2-gangliosidosis.

S C Li, Y Hirabayashi, Y T Li.   

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Year:  1981        PMID： 7306091     DOI： 10.1016/0006-291x(81)91285-7

Source DB:  PubMed          Journal:  Biochem Biophys Res Commun        ISSN： 0006-291X            Impact factor:   3.575


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  19 in total

1.  Role of beta Arg211 in the active site of human beta-hexosaminidase B.

Authors:  Y Hou; D Vocadlo; S Withers; D Mahuran
Journal:  Biochemistry       Date:  2000-05-23       Impact factor: 3.162

2.  A double mutation in exon 6 of the beta-hexosaminidase alpha subunit in a patient with the B1 variant of Tay-Sachs disease.

Authors:  P J Ainsworth; M B Coulter-Mackie
Journal:  Am J Hum Genet       Date:  1992-10       Impact factor: 11.025

Review 3.  On the structural elucidation of GalNAc-GD1a.

Authors:  Yu-Teh Li
Journal:  Neurochem Res       Date:  2012-01-17       Impact factor: 3.996

4.  A case of the B1 variant of GM2-gangliosidosis.

Authors:  R G Gray; A Green; L Rabb; D M Broadhead; G T Besley
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

5.  Genetic complementation in somatic cell hybrids of four variants of infantile GM2 gangliosidosis.

Authors:  S Sonderfeld; S Brendler; K Sandhoff; H Galjaard; A T Hoogeveen
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

6.  Hexosaminidase A activity in skin fibroblasts from various types of GM2 gangliosidosis using a fluorogenic sulphated substrate.

Authors:  K Inui; T Yutaka; S Okada; H Yabuuchi; D A Wenger; R J Desnick
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

7.  Preliminary evidence for a processing error in the biosynthesis of Gaucher activator in mucolipidosis disease types II and III.

Authors:  E Ranieri; B Paton; A Poulos
Journal:  Biochem J       Date:  1986-02-01       Impact factor: 3.857

8.  Diagnosis of infantile and juvenile forms of GM2 gangliosidosis variant 0. Residual activities toward natural and different synthetic substrates.

Authors:  H J Kytzia; U Hinrichs; K Sandhoff
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

9.  Ganglioside GM2 N-acetyl-beta-D-galactosaminidase activity in cultured fibroblasts of late-infantile and adult GM2 gangliosidosis patients and of healthy probands with low hexosaminidase level.

Authors:  E Conzelmann; H J Kytzia; R Navon; K Sandhoff
Journal:  Am J Hum Genet       Date:  1983-09       Impact factor: 11.025

10.  Concentrations of an activator protein for sphingolipid hydrolysis in liver and brain samples from patients with lysosomal storage diseases.

Authors:  K Inui; D A Wenger
Journal:  J Clin Invest       Date:  1983-11       Impact factor: 14.808
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