Sequential magnetic resonance spectroscopic changes in a patient with nonketotic hyperglycinemia

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...

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Hlavní autoři: Shin, Ji Hun, Ahn, So Yoon, Shin, Jeong Hee, Sung, Se In, Jung, Ji Mi, Kim, Jin Kyu, Kim, Eun Sun, Park, Hyung Doo, Kim, Ji Hye, Chang, Yun Sil, Park, Won Soon
Médium: Artigo
Jazyk:Inglês
Vydáno: The Korean Pediatric Society 2012
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3433568/
https://ncbi.nlm.nih.gov/pubmed/22977444
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3345/kjp.2012.55.8.301
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