Optimization of enzymatic diagnosis for mucopolysaccharidosis I in dried blood spots on filter paper
Author:
Publisher
Elsevier BV
Subject
Clinical Biochemistry,General Medicine
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2. Lysosomal disorders: from storage to cellular damage;Ballabio;Biochim Biophys Acta,2009
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4. Guidelines for the management of mucopolysaccharidosis type I;Martins;J Pediatr,2009
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1. A Biochemical Platform to Define the Relative Specific Activity of IDUA Variants Identified by Newborn Screening;International Journal of Neonatal Screening;2020-11-12
2. Newborn screening in mucopolysaccharidoses;Italian Journal of Pediatrics;2018-11
3. International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome;Acta Paediatrica;2018-10-23
4. Alpha- l -iduronidase and arylsulfatase B in dried blood spots on filter paper: Biochemical parameters and time stability;Clinical Biochemistry;2017-05
5. Diagnosis, classification and treatment of mucopolysaccharidosis type I;Expert Opinion on Orphan Drugs;2015-02-20
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