(Q46893339)

26 December 2017

title

Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease (English)

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26 December 2017

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9

Serge B Melançon

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26 December 2017

Josanne Cox-Brinkman

5

object named as

Josanne Cox-Brinkman

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26 December 2017

author name string

Christiane Auray-Blais

1

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26 December 2017

Denis Cyr

2

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26 December 2017

Aimé Ntwari

3

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26 December 2017

Michael L West

4

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26 December 2017

Daniel G Bichet

6

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26 December 2017

Dominique P Germain

7

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26 December 2017

Rachel Laframboise

8

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26 December 2017

Tracy Stockley

10

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26 December 2017

Joe T R Clarke

11

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26 December 2017

Régen Drouin

12

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26 December 2017

publication date

26 November 2007

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26 December 2017

Molecular Genetics and Metabolism

published in

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26 December 2017

volume

93

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26 December 2017

issue

3

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26 December 2017

page(s)

331-340

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26 December 2017

Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy

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Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease

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

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Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting

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

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

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

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Novel trinucleotide deletion in Fabry's disease.

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Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene

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Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations

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Fabry disease: comparison of enzymatic, linkage, and mutation analysis for carrier detection in a family with a novel mutation (30delG)

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Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene

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Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course

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

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Enzyme replacement in Fabry disease: the essence is in the kidney

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Cellular and tissue distribution of intravenously administered agalsidase alfa

7 January 2021

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Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease.

7 January 2021

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Non-invasive screening method for Fabry disease by measuring globotriaosylceramide in whole urine samples using tandem mass spectrometry

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Rapid quantitation of globotriaosylceramide in human plasma and urine: a potential application for monitoring enzyme replacement therapy in Anderson-Fabry disease

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Rapid determination of urinary globotriaosylceramide isoform profiles by electrospray ionization mass spectrometry using stearoyl-d35-globotriaosylceramide as internal standard.

7 January 2021

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Urinary Lipid Profiling for the Identification of Fabry Hemizygotes and Heterozygotes

7 January 2021

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Synthesis of novel internal standards for the quantitative determination of plasma ceramide trihexoside in Fabry disease by tandem mass spectrometry

7 January 2021

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Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease

7 January 2021

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Liquid chromatography-tandem mass spectrometry quantification of globotriaosylceramide in plasma for long-term monitoring of Fabry patients treated with enzyme replacement therapy

7 January 2021

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Development of a filter paper method potentially applicable to mass and high-risk urinary screenings for Fabry disease

7 January 2021

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A biobank management model applicable to biomedical research

7 January 2021

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Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene

7 January 2021

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The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels.

7 January 2021

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Enzyme replacement therapy for Fabry disease: morphologic and histochemical changes in the urinary sediments

7 January 2021

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Validation of a liquid chromatography tandem mass spectrometry assay for serum creatinine and comparison with enzymatic and Jaffe methods

7 January 2021

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Simultaneous and rapid analysis of cyclosporin A and creatinine in finger prick blood samples using liquid chromatography tandem mass spectrometry and its application in C2 monitoring

7 January 2021

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Quantitative determination of guanidinoacetate and creatine in dried blood spot by flow injection analysis-electrospray tandem mass spectrometry

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.10.001

Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease

7 January 2021

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10.1016/J.YMGME.2007.10.001

7 January 2021

Identifiers

DOI

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26 December 2017

PubMed ID

18023222

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26 December 2017