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Description
2017 doi: 10.1182/blood-2017-06-740944
Of these rare syndromes, THMD3 (also called Amish-type microcephaly or Amish lethal microcephaly) has the more severe phenotype, resulting in a congenital microcephaly, elevated concentrations of -ketoglutarate in urine, and usually death in infancy (121)
L.Pearson-SmithJ.DayB
Youve probably heard the word antioxidant before, but how much do you really know about these important nutrients
