There have been significant advances allowing for the integration of mucopolysaccharidosis I into newborn screening programs. Initial experiences using a single-tier approach for this disorder have highlighted shortcomings that require immediate remediation. The recent evaluation of a second-tier biomarker integrated into the MPS I newborn screening protocol has been demonstrated to greatly improve the precision and predictive value of newborn screening for this disorder. This commentary urges newborn screening programs to learn from these experiences and improve newborn screening for mucopolysaccharidosis I and future mucopolysaccharidoses newborn screening programs by implementation of a second-tier biomarker analyte.Medicine, Faculty ofN...
The US Secretary of Health and Human Services recommended in February 2016 that mucopolysaccharidosi...
Newborn screening enables the diagnosis of treatable disorders at the early stages, and because of i...
Newborn screening is the largest population-based genetic screening effort in the United States. The...
Abstract Newborn screening (NBS) methods and therapeutic options have become increasingly available ...
Mucopolysaccharidosis type I (MPS I) was added to our expanded screening panel in 2015. Since then, ...
Mucopolysaccharidoses (MPSs) are a group of lysosomal storage diseases (LSDs) caused by an inherited...
Background Mucopolysaccharidoses (MPS) are a group of inborn errors of metabolism that are progressi...
The mucopolysaccharidoses (MPS), Pompe Disease (PD), and Krabbe disease (KD) are inherited condition...
Abstract Background Mucopolysaccharidoses (MPS) are lysosomal storage diseases in which mutations of...
Abstract Objectives Mucopolysaccharidosis type I...
All newborn screening (NBS) for mucopolysaccharidosis-I and -II (MPS-I and MPS-II) is carried out vi...
Thesis (Ph.D.)--University of Washington, 2018Chapter I. Development of Newborn Screening Method for...
Purpose: The implementation of newborn screening for lysosomal disorders has uncovered overall poor ...
The increasing availability of treatments and the importance of early intervention have stimulated i...
Abstract Advances in mass spectrometry have allowed for expansion of newborn screening test panels o...
The US Secretary of Health and Human Services recommended in February 2016 that mucopolysaccharidosi...
Newborn screening enables the diagnosis of treatable disorders at the early stages, and because of i...
Newborn screening is the largest population-based genetic screening effort in the United States. The...
Abstract Newborn screening (NBS) methods and therapeutic options have become increasingly available ...
Mucopolysaccharidosis type I (MPS I) was added to our expanded screening panel in 2015. Since then, ...
Mucopolysaccharidoses (MPSs) are a group of lysosomal storage diseases (LSDs) caused by an inherited...
Background Mucopolysaccharidoses (MPS) are a group of inborn errors of metabolism that are progressi...
The mucopolysaccharidoses (MPS), Pompe Disease (PD), and Krabbe disease (KD) are inherited condition...
Abstract Background Mucopolysaccharidoses (MPS) are lysosomal storage diseases in which mutations of...
Abstract Objectives Mucopolysaccharidosis type I...
All newborn screening (NBS) for mucopolysaccharidosis-I and -II (MPS-I and MPS-II) is carried out vi...
Thesis (Ph.D.)--University of Washington, 2018Chapter I. Development of Newborn Screening Method for...
Purpose: The implementation of newborn screening for lysosomal disorders has uncovered overall poor ...
The increasing availability of treatments and the importance of early intervention have stimulated i...
Abstract Advances in mass spectrometry have allowed for expansion of newborn screening test panels o...
The US Secretary of Health and Human Services recommended in February 2016 that mucopolysaccharidosi...
Newborn screening enables the diagnosis of treatable disorders at the early stages, and because of i...
Newborn screening is the largest population-based genetic screening effort in the United States. The...