Literature DB >> 2733734

Neuroaxonal dystrophy due to lysosomal alpha-N-acetylgalactosaminidase deficiency.

D Schindler1, D F Bishop, D E Wolfe, A M Wang, H Egge, R U Lemieux, R J Desnick.   

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Year:  1989        PMID： 2733734     DOI： 10.1056/NEJM198906293202606

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  16 in total

1.  Feline sphingolipidosis resembling Niemann-Pick disease type C.

Authors:  A C Lowenthal; J F Cummings; D A Wenger; M A Thrall; P A Wood; A de Lahunta
Journal:  Acta Neuropathol       Date:  1990       Impact factor: 17.088

2.  Mutations in PLA2G6 and the riddle of Schindler disease.

Authors:  S K Westaway; A Gregory; S J Hayflick
Journal:  J Med Genet       Date:  2007-01       Impact factor: 6.318

3.  Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy.

Authors:  A M Wang; D Schindler; R Desnick
Journal:  J Clin Invest       Date:  1990-11       Impact factor: 14.808

4.  PLA2G6 mutation underlies infantile neuroaxonal dystrophy.

Authors:  Shareef Khateeb; Hagit Flusser; Rivka Ofir; Ilan Shelef; Ginat Narkis; Gideon Vardi; Zamir Shorer; Rachel Levy; Aharon Galil; Khalil Elbedour; Ohad S Birk
Journal:  Am J Hum Genet       Date:  2006-09-19       Impact factor: 11.025

5.  Amyloid precursor protein and ubiquitin immunoreactivity in dystrophic axons is not unique to Alzheimer's disease.

Authors:  E Cochran; B Bacci; Y Chen; A Patton; P Gambetti; L Autilio-Gambetti
Journal:  Am J Pathol       Date:  1991-09       Impact factor: 4.307

6.  Structural and immunocytochemical studies on alpha-N-acetylgalactosaminidase deficiency (Schindler/Kanzaki disease).

Authors:  Hitoshi Sakuraba; Fumiko Matsuzawa; Sei-Ichi Aikawa; Hirofumi Doi; Masaharu Kotani; Hiroshi Nakada; Tomoko Fukushige; Tamotsu Kanzaki
Journal:  J Hum Genet       Date:  2003-12-19       Impact factor: 3.172

7.  Mild phenotypic expression of alpha-N-acetylgalactosaminidase deficiency in two adult siblings.

Authors:  A Chabás; M J Coll; M Aparicio; E Rodriguez Diaz
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

8.  The molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes angiokeratoma corporis diffusum with glycopeptiduria.

Authors:  A M Wang; T Kanzaki; R J Desnick
Journal:  J Clin Invest       Date:  1994-08       Impact factor: 14.808

9.  Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype.

Authors:  J L Keulemans; A J Reuser; M A Kroos; R Willemsen; M M Hermans; A M van den Ouweland; J G de Jong; R A Wevers; W O Renier; D Schindler; M J Coll; A Chabas; H Sakuraba; Y Suzuki; O P van Diggelen
Journal:  J Med Genet       Date:  1996-06       Impact factor: 6.318

10.  Lysosomal alpha-N-acetylgalactosaminidase deficiency, the enzymatic defect in angiokeratoma corporis diffusum with glycopeptiduria.

Authors:  T Kanzaki; A M Wang; R J Desnick
Journal:  J Clin Invest       Date:  1991-08       Impact factor: 14.808
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