Screening for Methylmalonic and Propionic Acidemia: Clinical Outcomes and Follow-Up Recommendations

• Main Authors: Patrice K. Held (Author), Emily Singh (Author), Jessica Scott Schwoerer (Author)
• Format: Bog
• Udgivet: MDPI AG, 2022-02-01T00:00:00Z.
• Fag: article
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Wisconsin's newborn screening program implemented second-tier testing on specimens with elevated propionylcarnitine (C3) to aid in the identification of newborns with propionic and methylmalonic acidemias. The differential diagnosis for elevated C3 also includes acquired vitamin B12 deficiency,...