Enzymatic Screening and Diagnosis of Lysosomal Storage Diseases

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Mucopolysaccharidosis VII in a Cat Caused by 2 Adjacent Missense Mutations in the GUSB Gene

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Enzymatic Screening and Diagnosis of Lysosomal Storage Diseases

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2013 nî lūn-bûn

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2013年の論文

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2013年論文

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2013年論文

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2013年論文

@zh-hk

2013年論文

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2013年論文

@zh-tw

2013年论文

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2013年论文

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2013年论文

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name

Enzymatic Screening and Diagnosis of Lysosomal Storage Diseases

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Enzymatic Screening and Diagnosis of Lysosomal Storage Diseases

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Enzymatic Screening and Diagnosis of Lysosomal Storage Diseases

@en

P1476

Enzymatic Screening and Diagnosis of Lysosomal Storage Diseases

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P2093

Chunli Yu

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

Hui Zhou

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

Qin Sun

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

P2860

Tay-Sachs and Sandhoff diseases: enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards

Multiplex newborn screening for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases using a digital microfluidic platform.

Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis I

Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria.

Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).

Prevalence of lysosomal storage disorders.

Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals.

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

Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).

Pompe disease in infants: improving the prognosis by newborn screening and early treatment.

P304

186-193

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scholarly article

P356

10.7156/NAJMS.2013.0604186

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P478

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2013-01-01T00:00:00Z

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P698

27293520

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P932

4902264

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Enzymatic Screening and Diagnosis of Lysosomal Storage Diseases

about

P2860

P2860

Enzymatic Screening and Diagnosis of Lysosomal Storage Diseases

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698

P932