Laboratory Diagnosis of Lysosomal Storage Diseases
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Publisher
John Wiley & Sons, Ltd
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/9781118514672.ch3/fullpdf
Reference17 articles.
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2. Lysosomal storage disorders: molecular basis and laboratory testing;Filocamo;Hum Genom,2011
3. Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders;Gelb;J Inherit Metab Dis,2006
4. Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease;Mills;J Inherit Metab Dis,2005
5. Multiplex lysosomal enzyme activity assay on dried blood spots using tandem mass spectrometry;Zhang;Methods Mol Biol,2010
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1. Laboratory Diagnosis and Monitoring of Lysosomal Storage Diseases;Lysosomal Storage Disorders;2022-07-21
2. Prenatal Diagnosis of Disorders of Lipid Metabolism;Genetic Disorders and the Fetus;2015-11-23
3. Lysosomal diseases: diagnostic update;Journal of Inherited Metabolic Disease;2014-04-08
4. Signes d’appel anténataux des maladies héréditaires du métabolisme;Revue de médecine périnatale;2012-12
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