一名患有9p-综合征患者的非酮症高甘氨酸血症
Nonketotic hyperglycinemia in a patient with the 9p- syndrome.
作者信息
Burton B K, Pettenati M J, Block S M, Bensen J, Roach E S
机构信息
Department of Pediatrics, Bowman Gray School of Medicine, Winston-Salem, North Carolina 27103.
出版信息
Am J Med Genet. 1989 Apr;32(4):504-5. doi: 10.1002/ajmg.1320320416.
PMID:2773994
Abstract
We describe a newborn infant with 9p- syndrome and nonketotic hyperglycinemia. This unusual occurrence may not have been coincidental and suggests that there may be a gene for nonketotic hyperglycinemia located on the short arm of chromosome 9.
摘要
我们描述了一名患有9p-综合征和非酮症高甘氨酸血症的新生儿。这种不寻常的情况可能并非巧合，提示9号染色体短臂上可能存在非酮症高甘氨酸血症相关基因。
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