Newborn Screening for Lysosomal Storage Diseases
نویسندگان
چکیده
منابع مشابه
Newborn screening for lysosomal storage diseases.
BACKGROUND There is worldwide interest in newborn screening for lysosomal storage diseases because of the development of treatment options that give better results when carried out early in life. Screens with high differentiation between affected and nonaffected individuals are critical because of the large number of potential false positives. CONTENT This review summarizes 3 screening method...
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 کاملPilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry☆
BACKGROUND There is current expansion of newborn screening (NBS) programs to include lysosomal storage disorders because of the availability of treatments that produce an optimal clinical outcome when started early in life. OBJECTIVE To evaluate the performance of a multiplex-tandem mass spectrometry (MS/MS) enzymatic activity assay of 6 lysosomal enzymes in a NBS laboratory for the identific...
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ژورنال
عنوان ژورنال: Clinical Chemistry
سال: 2015
ISSN: 0009-9147,1530-8561
DOI: 10.1373/clinchem.2014.225771