(Q40418233)

20 September 2017

Fabry disease: correlation between structural changes in alpha-galactosidase, and clinical and biochemical phenotypes (English)

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20 September 2017

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Fumiko Matsuzawa

1

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20 September 2017

Sei-ichi Aikawa

2

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20 September 2017

Hirofumi Doi

3

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20 September 2017

Toshika Okumiya

4

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20 September 2017

Hitoshi Sakuraba

5

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20 September 2017

28 May 2005

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20 September 2017

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20 September 2017

117

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20 September 2017

4

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20 September 2017

317-328

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https://scigraph.springernature.com/pub.10.1007/s00439-005-1300-5

20 September 2017

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cites work

Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease.

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00439-005-1300-5

Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease

21 January 2018

1 reference

12 December 2020

An Atypical Variant of Fabry's Disease in Men with Left Ventricular Hypertrophy

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12 December 2020

Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey

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12 December 2020

A female heterozygous patient with Fabry's disease with renal accumulation of trihexosylceramide detected with a monoclonal antibody

1 reference

12 December 2020

Molecular and structural studies of the GM2 gangliosidosis 0 variant.

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12 December 2020

Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.

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12 December 2020

Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease

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12 December 2020

Point mutation in the alpha-galactosidase A gene of atypical Fabry disease with only nephropathy

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12 December 2020

Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease

1 reference

12 December 2020

Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy

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12 December 2020

An Atypical Variant of Fabry's Disease with Manifestations Confined to the Myocardium

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12 December 2020

Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease

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12 December 2020

The molecular defect leading to Fabry disease: structure of human alpha-galactosidase

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12 December 2020

Structural basis of the GM2 gangliosidosis B variant

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12 December 2020

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

1 reference

12 December 2020

Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease

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12 December 2020

Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.

1 reference

12 December 2020

Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins

1 reference

12 December 2020

Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy

1 reference

12 December 2020

Cardiovascular manifestations in Fabry's disease. A high incidence of mitral valve prolapse in hemizygotes and heterozygotes

1 reference

12 December 2020

Point mutations in the upstream region of the ?-galactosidase A gene exon 6 in an atypical variant of Fabry disease

1 reference

12 December 2020

Immunofluorescence analysis of trihexosylceramide accumulated in the hearts of variant hemizygotes and heterozygotes with Fabry disease

1 reference

12 December 2020

Immunofluorescence imaging diagnosis of Fabry heterozygotes using confocal laser scanning microscopy.

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12 December 2020

Novel missense mutation (M72V) of alpha-galactosidase gene and its expression product in an atypical Fabry hemizygote

1 reference

12 December 2020

Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy

1 reference

12 December 2020

Cardiovascular manifestations in Fabry's disease--age-related changes in hemizygotes and heterozygotes

1 reference

12 December 2020

Characterization of a mutant alpha-galactosidase gene product for the late-onset cardiac form of Fabry disease

1 reference

12 December 2020

10.1007/S00439-005-1300-5

Identifiers

DOI

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Dimensions Publication ID

20 September 2017

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1 reference