Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis.
about
Analysis of mucolipidosis II/III GNPTAB missense mutations identifies domains of UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase involved in catalytic function and lysosomal enzyme recognitionInherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of Lysosomal Storage Disorders.Novel frameshift variant in the IDUA gene underlies Mucopolysaccharidoses type I in a consanguineous Yemeni pedigree.Cardiovascular Abnormalities in Egyptian Children with Mucopolysaccharidoses.Prevalence of Mucopolysaccharidosis Types I, II, and VI in the Pediatric and Adult Population with Carpal Tunnel Syndrome (CTS). Retrospective and Prospective Analysis of Patients Treated for CTS.
P2860
Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis.
description
2014 nî lūn-bûn
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2014年の論文
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2014年学术文章
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2014年学术文章
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2014年学术文章
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2014年学术文章
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2014年学术文章
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name
Dried blood spots allow target ...... ccharidosis and mucolipidosis.
@en
Dried blood spots allow target ...... ccharidosis and mucolipidosis.
@nl
type
label
Dried blood spots allow target ...... ccharidosis and mucolipidosis.
@en
Dried blood spots allow target ...... ccharidosis and mucolipidosis.
@nl
prefLabel
Dried blood spots allow target ...... ccharidosis and mucolipidosis.
@en
Dried blood spots allow target ...... ccharidosis and mucolipidosis.
@nl
P2093
P2860
P356
P1476
Dried blood spots allow target ...... ccharidosis and mucolipidosis.
@en
P2093
Andreas Gal
Cordula Steglich
Paulina Nieves Cobos
René Santer
Zoltan Lukacs
P2860
P304
P356
10.1007/8904_2014_308
P577
2014-05-06T00:00:00Z