新生児マススクリーニングガイド対象疾患等診療ガイドライン
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8) Hayasaka K, et al.:Nonketotic hyperglycinemia:two patients with primary defects of P■protein and T■protein, respectively, in the glycine cleavage system. Pediatr Res1983;17:967■970.9) Kure S, et al.:Rapid diagnosis of glycine encephalopa-thy by 13 C■glycine breath test. Ann Neurol 2006;59:862■867. 10) Hoover■Fong JE, et al.:Natural history of nonketotichyperglycinemia in 65 patients. Neurology 2004;63:1847■1853. 11) Mohammad SA, et al.:Nonketotic hyperglycinemia:spectrum of imaging findings with emphasis on diffu-sion■weighted imaging. Neuroradiology 2017;59:1155■1163. 12) Stence NV, et al.:Brain imaging in classic nonketotichyperglycinemia:Quantitative analysis and relation tophenotype. J Inherit Metabol Dis 2019;42:438■450. 13) Scalais E, et al.:X■Linked Cobalamin Disorder(HCFC1)Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methyl-malonic Acid. Pediatric neurology 2017;71:65■69. 14) Baker PR 2nd, et al.:Variant non ketotic hyperglycin-emia is caused by mutations in LIAS, BOLA3 and thenovel gene GLRX5. Brain 2014;137:366■379. 15) Habarou F, et al.:Biallelic Mutations in LIPT2 Cause aMitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy. Am J Hum Genet 2017;101:283■290. 16) Chien YH, et al.:Poor outcome for neonatal■type nonke-totic hyperglycinemia treated with high■dose sodiumbenzoate and dextromethorphan. J Child Neurol 2004;19:39■42. 17) Bjoraker KJ, et al.:Neurodevelopmental Outcome andTreatment Efficacy of Benzoate and Dextromethorphanin Siblings with Attenuated Nonketotic Hyperglycinemia. J Pediatr 2016;170:234■239. 18) Finsterer J, et al.:Effects of antiepileptic drugs on mito-chondrial functions, morphology, kinetics, biogenesis,and survival. Epilepsy Res 2017;136:5■11. 19) Tsuyusaki Y, et al.:Paradoxical increase in seizure fre-quency with valproate in nonketotic hyperglycinemia.Brain Dev 2012;34:72■75. 20) Cusmai R, et al.:Ketogenic diet in early myoclonicencephalopathy due to nonketotic hyperglycinemia. Eur J Paediatr Neurol 2012;16:509■513. 21) Kava MP, et al.:Ketogenic diet, a potentially valuabletherapeutic option for the management of refractory epi-lepsy in classical neonatal nonketotic hyperglycinemia:a case report. Eur J Clin Nutr 2019;73:961■965. 22) Hoek JB, et al.:Alcohol and mitochondria:a dysfunc-tional relationship. Gastroenterology 2002;122:2049■2063.6

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