Publications by authors named "Hillary Vallance"
Article Synopsis
- The study aimed to clinically validate cutoff values for newborn screening using tandem mass spectrometry by collaborating globally.
- Researchers analyzed data from about 25-30 million normal newborns and over 10,700 true positive cases to establish clinically significant cutoff ranges.
- As of December 2010, data from 130 sites in 45 countries contributed to defining cutoff ranges for 114 markers, showcasing a high level of international cooperation in screening for rare metabolic disorders.
Idiopathic infantile arterial calcification (IIAC; OMIM 208000) is characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. We analyzed affected individuals from 11 unrelated kindreds and found that IIAC was associated with mutations that inactivated ecto-nucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1). This cell surface enzyme generates inorganic pyrophosphate (PP(i)), a solute that regulates cell differentiation and serves as an essential physiologic inhibitor of calcification.
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