Literature DB >> 2889023

Lysosomal alpha-N-acetylgalactosaminidase deficiency: a new inherited metabolic disease.

O P van Diggelen, D Schindler, W J Kleijer, J M Huijmans, H Galjaard, H U Linden, J Peter-Katalinic, H Egge, U Dabrowski, M Cantz.   

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Year:  1987        PMID： 2889023     DOI： 10.1016/s0140-6736(87)92542-6

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  15 in total

Review 1.  Schindler disease: an inherited neuroaxonal dystrophy due to alpha-N-acetylgalactosaminidase deficiency.

Authors:  R J Desnick; A M Wang
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

2.  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

3.  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

4.  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

5.  Pharmacological chaperones for human α-N-acetylgalactosaminidase.

Authors:  Nathaniel E Clark; Matthew C Metcalf; Daniel Best; George W J Fleet; Scott C Garman
Journal:  Proc Natl Acad Sci U S A       Date:  2012-10-08       Impact factor: 11.205

6.  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

7.  alpha-N-acetylgalactosaminidase deficiency, a new lysosomal storage disorder.

Authors:  O P van Diggelen; D Schindler; R Willemsen; M Boer; W J Kleijer; J G Huijmans; W Blom; H Galjaard
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

Review 8.  Lysosomal storage diseases.

Authors:  Carlos R Ferreira; William A Gahl
Journal:  Transl Sci Rare Dis       Date:  2017-05-25

9.  The 1.9 a structure of human alpha-N-acetylgalactosaminidase: The molecular basis of Schindler and Kanzaki diseases.

Authors:  Nathaniel E Clark; Scott C Garman
Journal:  J Mol Biol       Date:  2009-08-14       Impact factor: 5.469

10.  Effects of Sponge-Derived Alkaloids on Activities of the Bacterial α-D-Galactosidase and Human Cancer Cell α-N-Acetylgalactosaminidase.

Authors:  Natalia Utkina; Galina Likhatskaya; Olesya Malyarenko; Svetlana Ermakova; Larisa Balabanova; Lubov Slepchenko; Irina Bakunina
Journal:  Biomedicines       Date:  2021-05-05
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