Literature DB >> 2564952

Novel lysosomal glycoaminoacid storage disease with angiokeratoma corporis diffusum.

T Kanzaki1, M Yokota, N Mizuno, Y Matsumoto, Y Hirabayashi.   

Abstract

A 46-year-old Japanese woman had disseminated angiokeratoma, confirmed by electron microscopy which showed numerous cytoplasmic vacuoles in cells of the kidney and skin. Enzyme activities against synthetic and natural substrates in leucocytes and fibroblasts were normal. Her urine contained a large amount of sialylglycoaminoacids, with predominant excretion of an O-glycoside-linked glycoaminoacid.

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Year:  1989        PMID： 2564952     DOI： 10.1016/s0140-6736(89)92867-5

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


  14 in total

1.  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

2.  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

3.  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

4.  The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents.

Authors:  Markus Ries; Uma Ramaswami; Rossella Parini; Bengt Lindblad; Catharina Whybra; Ingrid Willers; Andreas Gal; Michael Beck
Journal:  Eur J Pediatr       Date:  2003-09-20       Impact factor: 3.183

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.  Establishment of immortalized Schwann cells from Fabry mice and their low uptake of recombinant alpha-galactosidase.

Authors:  Ikuo Kawashima; Kazuhiko Watabe; Youichi Tajima; Tomoko Fukushige; Tamotsu Kanzaki; Takuro Kanekura; Kanako Sugawara; Naho Ohyanagi; Toshihiro Suzuki; Tadayasu Togawa; Hitoshi Sakuraba
Journal:  J Hum Genet       Date:  2007-10-27       Impact factor: 3.172

8.  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

Review 9.  Lysosomal storage diseases.

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

10.  Characterization of four monosialo and a novel disialo Asn N-glycosides from the urine of a patient with aspartylglycosaminuria.

Authors:  F Irie; H Murakoshi; T Suzuki; Y Suzuki; K Kon; S Ando; K Yoshida; Y Hirabayashi
Journal:  Glycoconj J       Date:  1995-06       Impact factor: 2.916
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