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Sequential magnetic resonance spectroscopic changes in a patient with nonketotic hyperglycinemia

Ji Hun Shin, So Yoon Ahn, Jeong Hee Shin, Se In Sung, Ji Mi Jung, Jin Kyu Kim, Eun Sun Kim, Hyung Doo Park, Ji Hye Kim, Yun Sil Chang, Won Soon Park

Clin Exp Pediatr. 2012;55(8):301-305. Published online August 23, 2012

Crossref 6

Nonketotic hyperglycinemia (NKH) is a rare inborn error of amino acid metabolism. A defect in the glycine cleavage enzyme system results in highly elevated concentrations of glycine in the plasma, urine, cerebrospinal fluid, and brain, resulting in glycine-induced encephalopathy and neuropathy. The prevalence of NKH in Korea is very low, and no reports of surviving patients are available, given the...

DOI: https://doi.org/10.3345/kjp.2012.55.8.301

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