Newborn Screening for Lysosomal Storage Disorders
Open Access
- 1 May 2005
- journal article
- Published by Oxford University Press (OUP) in Clinical Chemistry
- Vol. 51 (5) , 808-809
- https://doi.org/10.1373/clinchem.2005.048553
Abstract
No abstract availableKeywords
This publication has 27 references indexed in Scilit:
- Tandem Mass Spectrometric Analysis of Dried Blood Spots for Screening of Mucopolysaccharidosis I in NewbornsClinical Chemistry, 2005
- Newborn Screening for Lysosomal Storage Disorders: Clinical Evaluation of a Two-Tier StrategyPublished by American Academy of Pediatrics (AAP) ,2004
- Direct Multiplex Assay of Lysosomal Enzymes in Dried Blood Spots for Newborn ScreeningClinical Chemistry, 2004
- Enzyme replacement and enhancement therapies for lysosomal diseasesJournal of Inherited Metabolic Disease, 2004
- Tandem Mass Spectrometry for the Direct Assay of Enzymes in Dried Blood Spots: Application to Newborn Screening for Krabbe DiseaseClinical Chemistry, 2004
- Tay-Sachs and Sandhoff diseases: enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cardsClinica Chimica Acta; International Journal of Clinical Chemistry, 2002
- Determination of Acid α-Glucosidase Activity in Blood Spots as a Diagnostic Test for Pompe DiseaseClinical Chemistry, 2001
- Fabry disease: enzymatic diagnosis in dried blood spots on filter paperClinica Chimica Acta; International Journal of Clinical Chemistry, 2001
- Tandem mass spectrometry: A new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolismJournal of Inherited Metabolic Disease, 1990
- Newborn Phenylketonuria Detection Program in MassachusettsAmerican Journal of Public Health and the Nations Health, 1964