Neonatal Expanded Screening toward lysosomal storage disorders
نویسندگان
چکیده
منابع مشابه
Neonatal Expanded Screening toward lysosomal storage disorders
Newborn Screening (NBS) is a public health program aimed at identifying treatable conditions in presymptomatic newborns to avoid premature mortality, morbidity and disability. The advent of tandem mass – spectrometry (MS/MS) has enabled the interrogation of multiple disorders using a single, multianalyte assay changing the origin scenario of one screening, one disease. For example, even if a di...
متن کاملNewborn Screening for Lysosomal Storage Disorders.
Newborn screening is one of the most important public health initiatives to date, focusing on the identification of presymptomatic newborn infants with treatable conditions to reduce morbidity and mortality. The number of screening conditions continues to expand due to advances in screening technologies and the development of novel therapies. Consequently, some of the lysosomal storage disorder...
متن کاملNewborn screening of lysosomal storage disorders.
BACKGROUND Newborn screening is a state-based public health program established as a means for the early detection and treatment of certain medical conditions to minimize developmental disability and mortality. The program was initiated more than 40 years ago to detect and prevent phenylketonuria. Recent technological advances have expanded the scope of newborn screening to include more than 30...
متن کاملSimplified newborn screening protocol for lysosomal storage disorders.
BACKGROUND Interest in lysosomal storage disorders, a collection of more than 40 inherited metabolic disorders, has increased because of new therapy options such as enzyme replacement, stem cell transplantation, and substrate reduction therapy. We developed a high-throughput protocol that simplifies analytical challenges such as complex sample preparation and potential interference from excess ...
متن کاملImmunochemistry of lysosomal storage disorders.
BACKGROUND Lysosomal storage disorders are a group of genetic diseases, each with a broad spectrum of clinical presentation that ranges from attenuated to severe. The immunochemical analysis of patient samples is aimed at several key aspects of patient management, including early detection of the disorder, prediction of clinical severity, determining the most appropriate therapeutic regimen, an...
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ژورنال
عنوان ژورنال: Italian Journal of Pediatrics
سال: 2015
ISSN: 1824-7288
DOI: 10.1186/1824-7288-41-s2-a11