About: Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype

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About: Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype Goto Sponge NotDistinct Permalink

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scientific article published on 01 September 2003

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована у вересні 2003 (uk) im September 2003 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu en setiembre de 2003 (ast) scientific article published on 01 September 2003 (en)
publication date	wds:Q73794454-22BC284B-7A13-41F1-BE48-E07E974F27DE
publication date	2003-09-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q73794454-F5233036-9A6B-4915-AF70-37E91C849F24
language of work or name	English
exact match	wds:Q73794454-7C7A2D36-24DD-446C-A7FB-5E308CFCBC81
exact match	https://scigraph.springernature.com/pub.10.1046/j.1523-1755.2003.00160.x
author name string	wds:Q73794454-2BBD9C30-02AF-432D-808E-F71A69C75996 wds:Q73794454-2EF6F907-0EF8-46FB-9C10-85620682ED55 wds:Q73794454-2F827378-8A7E-430B-95E7-E6CB02CEA1EC wds:Q73794454-3256381B-990F-4FE3-BD7F-96FE573EA3D8 wds:Q73794454-53653B30-BF38-44EE-BD98-F906594348A8 wds:Q73794454-7DEA9063-E664-4C7D-A222-7B16D15213D6 wds:Q73794454-86E609C4-4A99-41E6-AD7C-7528DF19A254 wds:Q73794454-8E123166-C96D-422F-B19B-DE8289BA4AFB wds:Q73794454-9C5AD4E5-73A8-4577-B2E4-8EBCC8356EBF wds:Q73794454-B0156D67-B3C6-43A8-89AF-318035AE5D06 wds:Q73794454-BBDB0057-40A6-465F-A69F-6EC859DA700C
author name string	Hiromitsu Tanaka Tamotsu Kanzaki Akihiro Tanaka Chuwa Tei Christine M Eng Aichi Yoshida Toshihiro Takenaka Shoichiro Nakao Yuichiro Yasumoto Annette L D Enriquez Chihaya Kodama
rdfs:label	Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype (en) Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype (nl)
skos:prefLabel	Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype (en) Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype (nl)
name	Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype (en) Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype (nl)
author	wds:Q73794454-AF795542-E7EA-4B9C-96E0-09D14B74D99C
author	Robert J. Desnick
title	wds:Q73794454-914D99C3-5D2E-4C42-94C8-C672193E6FAF
title	Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype (en)
page(s)	wds:Q73794454-7A9D5E72-73F0-4D7F-A19A-64A93A280247
page(s)	801-807
instance of	wds:Q73794454-AFF93272-B56D-4DC3-B019-F29612FD7FCA
instance of	scholarly article
main subject	wds:Q73794454-523B4653-34AD-4C4C-9530-904B7FF76D99 wds:Q73794454-E3030B9F-49A3-4C0F-9FBE-2E5037D1B4F9
main subject	phenotype Fabry disease
PubMed ID	wds:Q73794454-3DBDBA8A-4161-446B-92A0-7E177A632563
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/12911529
PubMed ID	12911529
published in	wds:Q73794454-42A6423B-19DB-4AE7-AC33-6CBB815034CF
published in	Kidney International
issue	wds:Q73794454-2C45A07D-868D-43A4-9132-877A8C871E0A
volume	wds:Q73794454-A1489BDB-48C6-4866-9E27-8123AC903B34
issue	3
volume	64
DOI	wds:Q73794454-E1CD1ED6-5CA5-420A-B710-4B7419800E24
DOI	http://dx.doi.org/10.1046/J.1523-1755.2003.00160.X
DOI	10.1046/J.1523-1755.2003.00160.X
Dimensions Publication ID	wds:Q73794454-08FB799D-9113-4894-BA9F-58EFE5715F91
Dimensions Publication ID	1005261423
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q73794454
is cites work of	A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations Non-invasive high-risk screening for Fabry disease hemizygotes and heterozygotes Neurological manifestations in Fabry's disease Fabry disease: recent advances in pathology, diagnosis, treatment and monitoring High incidence of later-onset fabry disease revealed by newborn screening Gastrointestinal manifestations of Fabry disease: clinical response to enzyme replacement therapy Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Clinical benefit of enzyme replacement therapy in Fabry disease The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines Fabry disease The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations Fabry disease: incidence of the common later-onset α-galactosidase A IVS4+919G→A mutation in Taiwanese newborns--superiority of DNA-based to enzyme-based newborn screening for common mutations Age at First Cardiac Symptoms in Fabry Disease: Association with a Chinese Hotspot Fabry Mutation (IVS4+919G>A), Classical Fabry Mutations, and Sex in a Taiwanese Population from the Fabry Outcome Survey (FOS). Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A). Effects of enzyme replacement therapy for cardiac-type Fabry patients with a Chinese hotspot late-onset Fabry mutation (IVS4+919G>A) Enzyme assay and clinical assessment in subjects with a Chinese hotspot late-onset Fabry mutation (IVS4 + 919G→A). A rare association between Fabry's disease and granulomatosis with polyangiitis: a potential pathogenic link Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation Screening of male dialysis patients for fabry disease by plasma globotriaosylsphingosine Fabry disease: enzymatic screening using dried blood spots on filter paper Age adjusting severity scores for Anderson-Fabry disease Fabry disease: a morphologic study of 11 cases. Fabry disease: An underrecognized cause of proteinuria Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts from patients with Fabry disease Clinical and biochemical investigation of male patients exhibiting membranous cytoplasmic bodies in biopsied kidney tissues; a pitfall in diagnosis of Fabry disease Frequency of unrecognized Fabry disease among young European-American and African-American men with first ischemic stroke Monogenic vessel diseases related to ischemic stroke: a clinical approach Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease. Fabry disease: biochemical, pathological and structural studies of the α-galactosidase A with E66Q amino acid substitution. Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns. Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele

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