Amish microcephaly: Long-term survival and biochemical characterization.


Amish microcephaly (MCPHA, OMIM #607196) is a metabolic disorder that has been previously characterized by severe infantile lethal congenital microcephaly and alpha-ketoglutaric aciduria. All reported patients have been from the Pennsylvania Amish community and homozygous for a p.Gly177Ala mutation in SLC25A19. We present a further male patient with MCPHA… (More)
DOI: 10.1002/ajmg.a.33373


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@article{Siu2010AmishML, title={Amish microcephaly: Long-term survival and biochemical characterization.}, author={Victoria Mok Siu and Suzanne Ratko and Asuri Narayan Prasad and Chitra Prasad and C. Anthony Rupar}, journal={American journal of medical genetics. Part A}, year={2010}, volume={152A 7}, pages={1747-51} }