Compound heterozygous mutation of SLC25A1 gene in glutaric aciduria type 2

• Main Authors: Karthikeyan Kadirvel (Author), Adarsh Bagali (Author), Sumathisri Ramachandran (Author)
• פורמט: ספר
• יצא לאור: Wolters Kluwer Medknow Publications, 2021-01-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

Background: Sudden unexplained postnatal collapse (SUPC) is a condition in which a newborn born at term or near term, and an Apgar score >8 at 5 min and deemed healthy, presents with sudden unexpected cardiorespiratory collapse within the 1st week of life. This can be due to multiple, heterogeneo...