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Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria.
Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.
Liver transplantation for treatment of severe S-adenosylhomocysteine hydrolase deficiency.
Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier.