Literature DB >> 5030173

Generalized accumulation of neutral glycosphingolipids with GM2 ganglioside accumulation in the brain. Sandhoff's disease (variant of Tay-Sachs disease).

W Krivit, R J Desnick, J Lee, J Moller, F Wright, C C Sweeley, P D Snyder, H L Sharp.   

Abstract

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Year:  1972        PMID： 5030173     DOI： 10.1016/0002-9343(72)90082-4

Source DB:  PubMed          Journal:  Am J Med        ISSN： 0002-9343            Impact factor:   4.965


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  9 in total

Review 1.  Biochemistry and genetics of gangliosidoses.

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

2.  Characterization of Hex S, the major residual beta hexosaminidase activity in type O Gm2 gangliosidosis (Sandhoff-Jatzkewitz disease).

Authors:  J U Ikonne; M C Rattazzi; R J Desnick
Journal:  Am J Hum Genet       Date:  1975-09       Impact factor: 11.025

3.  High-sensitivity analysis of glycosphingolipids by matrix-assisted laser desorption/ionization quadrupole ion trap time-of-flight imaging mass spectrometry on transfer membranes.

Authors:  Naoko Goto-Inoue; Takahiro Hayasaka; Yuki Sugiura; Takao Taki; Yu-Teh Li; Mineo Matsumoto; Mitsutoshi Setou
Journal:  J Chromatogr B Analyt Technol Biomed Life Sci       Date:  2008-06-06       Impact factor: 3.205

4.  Sandhoff disease: a prevalent form of infantile GM2 gangliosidosis in Lebanon.

Authors:  V M Der Kaloustian; M J Khoury; R Hallal; Z H Idriss; M E Deeb; N W Wakid; F S Haddad
Journal:  Am J Hum Genet       Date:  1981-01       Impact factor: 11.025

5.  [Juvenile GM2 gangliosidosis with altered substrate specificity of hexosaminidase A (author's transl)].

Authors:  J Zerfowski; K Sandhoff
Journal:  Acta Neuropathol       Date:  1974-03-26       Impact factor: 17.088

6.  Sphingolipidoses.

Authors:  K Sandhoff
Journal:  J Clin Pathol Suppl (R Coll Pathol)       Date:  1974

7.  Natural history of infantile G(M2) gangliosidosis.

Authors:  Annette E Bley; Ourania A Giannikopoulos; Doug Hayden; Kim Kubilus; Cynthia J Tifft; Florian S Eichler
Journal:  Pediatrics       Date:  2011-10-24       Impact factor: 7.124

Review 8.  A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment.

Authors:  Piero Pavone; Andrea Domenico Praticò; Renata Rizzo; Giovanni Corsello; Martino Ruggieri; Enrico Parano; Raffaele Falsaperla
Journal:  Medicine (Baltimore)       Date:  2017-06       Impact factor: 1.889

9.  The GM2 gangliosidoses: Unlocking the mysteries of pathogenesis and treatment.

Authors:  Camilo Toro; Mosufa Zainab; Cynthia J Tifft
Journal:  Neurosci Lett       Date:  2021-08-25       Impact factor: 3.046
  9 in total

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