Rare diseases in Croatia--lesson learned from Anderson-Fabry disease

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Rare diseases in Croatia--lesson learned from Anderson-Fabry disease

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2008 nî lūn-bûn

@nan

2008年の論文

@ja

2008年論文

@yue

2008年論文

@zh-hant

2008年論文

@zh-hk

2008年論文

@zh-mo

2008年論文

@zh-tw

2008年论文

@wuu

2008年论文

@zh

2008年论文

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name

Rare diseases in Croatia--lesson learned from Anderson-Fabry disease

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type

Item

label

Rare diseases in Croatia--lesson learned from Anderson-Fabry disease

@en

prefLabel

Rare diseases in Croatia--lesson learned from Anderson-Fabry disease

@en

P1476

Rare diseases in Croatia--lesson learned from Anderson-Fabry disease

@en

P2093

Marin Nola

http://www.w3.org/2001/XMLSchema#string

Mirando Mrsić

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P2860

Genotype and phenotype in Fabry disease: analysis of the Fabry Outcome Survey

Management of Gaucher disease in a post-communist transitional health care system: Croatian experience.

Inborn errors of metabolism at the turn of the millennium.

Prenatal diagnosis of Fabry disease.

The expanding clinical spectrum of Anderson-Fabry disease: a challenge to diagnosis in the novel era of enzyme replacement therapy.

Agalsidase Beta: a review of its use in the management of Fabry disease.

Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone.

The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy.

Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life.

P304

579-581

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P31

scholarly article

P356

10.3325/CMJ.2008.5.579

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P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P577

2008-10-01T00:00:00Z

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P5875

23390470

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P698

18925690

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P921

rare disease

P932

2582349

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