What is it about?
As several neuromuscular disorders become treatable NBS use is popular in several countries a newborn screening has been started.This applies to SMA,pompe disease,fattyacid oxidation disorders.
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Why is it important?
To early treat such disorders since a treatment is available.
Perspectives
More neuromuscular disorders will become treatable with widespread use of NBS This will avoid economic trouble and family suffering.
Prof Corrado Angelini
Universita degli Studi di Padova Polo Bibliotecario di Scienze Farmacologia e Scienze Farmaceutiche
Read the Original
This page is a summary of: Newborn Screening for Neuromuscular Disorders, Disorders of Glycogen Metabolism, and Fatty Acid Oxidation, OBM Genetics, April 2024, Open BioMedical Publishing Corporation,
DOI: 10.21926/obm.genet.2402228.
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