A Roadmap for Potential Improvement of Newborn Screening for Inherited Metabolic Diseases Following Recent Developments and Successful Applications of Bivariate Normal Limits for Pre-Symptomatic Detection of MPS I, Pompe Disease, and Krabbe Disease

The mucopolysaccharidoses (MPS), Pompe Disease (PD), and Krabbe disease (KD) are inherited conditions known as lysosomal storage disorders (LSDs) The resulting enzyme deficiencies give rise to progressive symptoms. The United States Department of Health and Human Services' Recommended Uniform S...

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Main Authors: Kabir Jalal (Author), Randy L. Carter (Author), Amy Barczykowski (Author), Shunji Tomatsu (Author), Thomas J. Langan (Author)
Format: Book
Published: MDPI AG, 2022-11-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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