What are inborn errors of metabolism? Inborn errors of metabolism are primarily associated with the improper digestion of food items and defects in the storage of carbohydrates, fatty acids, and ...
The objective of this study was to evaluate the effect of birth center (inborn versus outborn) on morbidity and mortality for preterm neonates (23 to 32 weeks) using data collected prospectively ...
Behind every unexplained medical condition is a patient hoping for clarity and understanding. For people with suspected inborn errors of immunity (IEIs), genetic testing can facilitate individually ...
Inborn errors of metabolism (IEM), although individually rare, occur in 1 out of every 1,500 births. The first opportunity to detect IEM occurs during preconception counseling, when pregnant women and ...
The recent development of electrospray tandem mass spectrometry makes it possible to screen newborns for many rare inborn errors of metabolism, but the efficacy and outcomes of screening remain ...
Recent innovations in medical technology have changed newborn screening programs in the United States. The widespread use of tandem mass spectrometry is helping to identify more inborn errors of ...
In a study of seven children with profound immunodeficiency, an international consortium of researchers has discovered a T95R mutation in the gene for interferon regulatory factor 4. IRF4 is a ...
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