(Q53063211)

11 May 2018

title

Baseline characteristics of patients enrolled in the Canadian Fabry Disease Initiative. (English)

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11 May 2018

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S Sirrs

1

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J T R Clarke

2

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D G Bichet

3

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R Casey

4

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K Lemoine

5

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G Flowerdew

6

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D S Sinasac

7

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M L West

8

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publication date

16 November 2009

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11 May 2018

Molecular Genetics and Metabolism

published in

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11 May 2018

volume

99

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issue

4

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11 May 2018

page(s)

367-373

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11 May 2018

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

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

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Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry.

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Enzyme replacement therapy of Fabry disease

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Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males

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Agalsidase alfa and kidney dysfunction in Fabry disease.

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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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Antiproteinuric Therapy and Fabry Nephropathy: Sustained Reduction of Proteinuria in Patients Receiving Enzyme Replacement Therapy with Agalsidase-beta

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Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease

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Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype

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Fabry disease: 20 novel GLA mutations in 35 families

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

7 January 2021

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Mutation analysis in 11 French patients with Fabry 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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Molecular analysis in Fabry disease in Spain: fifteen novel GLA mutations and identification of a homozygous female

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Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.

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Two novel mutations in the alpha-galactosidase gene in Japanese classical hemizygotes with Fabry disease

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

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Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes

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Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype

7 January 2021

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A 3′ splice site consensus sequence mutation in the intron 3 of the α-galactosidase a gene in a patient with Fabry disease

7 January 2021

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Mutation analysis in patients with the typical form of Anderson-Fabry disease

7 January 2021

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A nonsense mutation (R220X) in the alpha-galactosidase A gene detected in a female carrier of Fabry disease

7 January 2021

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Remarkable variability in renal disease in a large Slovenian family with Fabry disease

7 January 2021

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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

7 January 2021

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Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.

7 January 2021

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Six novel mutations in the alpha-galactosidase A gene in families with Fabry disease.

7 January 2021

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

7 January 2021

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Fabry disease: overall effects of agalsidase alfa treatment

7 January 2021

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Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome survey.

7 January 2021

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Nature and prevalence of pain in Fabry disease and its response to enzyme replacement therapy--a retrospective analysis from the Fabry Outcome Survey.

7 January 2021

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Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.11.001

Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry Registry

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.11.001

Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy

7 January 2021

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Angiokeratoma corporis diffusum (Anderson-Fabry disease) in a single large family in Nova Scotia

7 January 2021

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inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/J.YMGME.2009.11.001

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11 May 2018

PubMed ID

20022777

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11 May 2018