Newborn screening for Fabry disease in the north-west of Spain.

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Fabry disease in the Spanish population: observational study with detection of 77 patients.

P2860

Q52327737-581C6BB0-337A-4662-81E7-EA5C3B613BB9

P2860

Newborn screening for Fabry disease in the north-west of Spain.

Item

http://www.wikidata.org/entity/Q41020446

description

2017 nî lūn-bûn

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2017年の論文

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2017年論文

@yue

2017年論文

@zh-hant

2017年論文

@zh-hk

2017年論文

@zh-mo

2017年論文

@zh-tw

2017年论文

@wuu

2017年论文

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2017年论文

@zh-cn

name

Newborn screening for Fabry disease in the north-west of Spain.

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type

Item

label

Newborn screening for Fabry disease in the north-west of Spain.

@en

prefLabel

Newborn screening for Fabry disease in the north-west of Spain.

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P1476

Newborn screening for Fabry disease in the north-west of Spain

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P2093

Cristina Melcon-Crespo

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Jose V Alvarez

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

Olalla E Lopez-Suarez

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

Saida Ortolano

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P2860

Prevalence of lysosomal storage disorders.

High incidence of later-onset fabry disease revealed by newborn screening

Enzyme replacement therapy for Fabry disease: some answers but more questions

Newborn screening for lysosomal storage diseases

Increased glycolipid storage produced by the inheritance of a complex intronic haplotype in the α-galactosidase A (GLA) gene.

Evaluation of the efficacy and safety of three dosing regimens of agalsidase alfa enzyme replacement therapy in adults with 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.

Questioning the Pathogenic Role of the GLA p.Ala143Thr "Mutation" in Fabry Disease: Implications for Screening Studies and ERT

Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders.

Identification of infants at risk for developing Fabry, Pompe, or mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry.

P2888

s00431-017-2950-8

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1075-1081

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scholarly article

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10.1007/S00431-017-2950-8

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P433

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P478

176

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José Ramón Fernández-Lorenzo

María L Couce

Cristóbal Colón

P577

2017-06-23T00:00:00Z

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28646478

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P932

5511307

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Newborn screening for Fabry disease in the north-west of Spain.

about

P2860

P2860

Newborn screening for Fabry disease in the north-west of Spain.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P698

P932