Reference values for lysosomal enzymes activities using dried blood spots samples - a Brazilian experience
about
Diagnosis of Morquio Syndrome in Dried Blood Spots Based on a New MRM-MS AssayAdvantages and Challenges of Dried Blood Spot Analysis by Mass Spectrometry Across the Total Testing ProcessRevised recommendations for the management of Gaucher disease in children.Inherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of Lysosomal Storage Disorders.Determination of Biological Variance and Validation of a Fluorometric Assay for Measurement of α-l-Iduronidase Activity in Dried Blood Spots Samples: The First Experience in IranSelective screening for lysosomal storage diseases with dried blood spots collected on filter paper in 4,700 high-risk colombian subjects.Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease.Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis.Reference intervals of α-glycosidase, β-glycosidase, and α-galactosidase in dried blood spot in a Turkish newborn population.Cytogenetic biomonitoring in mucopolyssacharosis I, II and IV patients treated with enzyme replacement therapy.New mutations in the GLA gene in Brazilian families with Fabry disease.Multicentric study on the diagnosis of Fabry's disease using angiokeratoma biopsy registries
P2860
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P2860
Reference values for lysosomal enzymes activities using dried blood spots samples - a Brazilian experience
description
2010 nî lūn-bûn
@nan
2010 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Reference values for lysosomal ...... mples - a Brazilian experience
@ast
Reference values for lysosomal ...... mples - a Brazilian experience
@en
Reference values for lysosomal ...... mples - a Brazilian experience
@nl
type
label
Reference values for lysosomal ...... mples - a Brazilian experience
@ast
Reference values for lysosomal ...... mples - a Brazilian experience
@en
Reference values for lysosomal ...... mples - a Brazilian experience
@nl
prefLabel
Reference values for lysosomal ...... mples - a Brazilian experience
@ast
Reference values for lysosomal ...... mples - a Brazilian experience
@en
Reference values for lysosomal ...... mples - a Brazilian experience
@nl
P2093
P2860
P356
P1433
P1476
Reference values for lysosomal ...... mples - a Brazilian experience
@en
P2093
Ana M Martins
Karen B Müller
Mayra Db Rodrigues
Vanessa G Pereira
P2860
P2888
P356
10.1186/1746-1596-5-65
P577
2010-09-29T00:00:00Z
P5875
P6179
1050953395