Chiu CF, Lin JL, Lin JJ, et al. Nonketotic hyperglycinemia of infants in Taiwan[J]. Pediatr Neonatol, 2016, 57(5):420-426.
[4]
Baker PR 2nd, Friederich MW, Swanson MA, et al. Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5[J]. Brain, 2014, 137(Pt 2):366-379.
[5]
Tada K, Narisawa K, Yoshida T, et al. Hyperglycinemia:a defect in glycine cleavage reaction[J]. Tohoku J Exp Med, 1969, 98(3):289-296.
[6]
Tada K, Kure S, Takayanagi M, et al. Non-ketotic hyperglycinemia:a life-threatening disorder in the neonate[J]. Early Hum Dev, 1992, 29(1-3):75-81.
[7]
Kanno J, Hutchin T, Kamada F, et al. Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia[J]. J Med Genet, 2007, 44(3):e69.
[8]
Kure S, Kato K, Dinopoulos A, et al. Comprehensive mutation analysis of GLDC, AMT and GCSH in nonketotic hyperglycinemia[J]. Hum Mutat, 2006, 27(4):343-352.
[9]
Conter C, Rolland MO, Cheillan D, et al. Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy[J]. Inherit Metab Dis, 2006, 29(1):135-142.
[10]
Beijer P, Lichtenbelt KD, Hofstede FC, et al. A known and a novel mutation in the glycine decarboxylase gene in a newborn with classic nonketotic hyperglycinemia[J]. Neuropediatrics, 2012, 43(3):164-167.
[11]
Ohya Y, Ochi N, Mizutani N, et al. Nonketotic hyperglycinemia:treatment with NMDA antagonist and consideration of neuropathogenesis[J]. Pediatr Neurol, 1991, 7(1):65-68.
[12]
Hoover-Fong JE, Shah S, Van Hove JL, et al. Natural history of nonketotic hyperglycinemia in 65 patients[J]. Neurology, 2004, 63(10):1847-1853.
Chiong MA, Procopis P, Carpenter K, et al. Late-onset nonketotic hyperglycinemia with leukodystrophy and an unusual clinical course[J]. Pediatr Neurol, 2007, 37(4):283-286.
[15]
Menéndez Suso JJ, Del Cerro Marín MJ, Dorao Martínez-Romillo P, et al. Nonketotic hyperglycinemia presenting as pulmonary hypertensive vascular disease and fatal pulmonary edema in response to pulmonary vasodilator therapy[J]. J Pediatr, 2012, 161(3):557-559.
[16]
Perry TL, Urquhart N, MacLean J, et al. Nonketotic hyperglycinemia. Glycine accumulation due to absence of glycerine cleavage in brain[J]. N Engl J Med, 1975, 292(24):1269-1273.
[17]
Korman SH, Gutman A. Pitfalls in the diagnosis of glycine encephalopathy (non-ketotic hyperglycinemia)[J]. Dev Med Child Neurol, 2002, 44(10):712-720.
[18]
Tada K, Kure S. Non-ketotic hyperglycinaemia:molecular lesion, diagnosis and pathophysiology[J]. J Inherit Metab Dis, 1993, 16(4):691-703.
[19]
Rathnayake G, Choy KW, Doery JC. Non-ketotic hyperglycinaemia in a neonate diagnosed by multidisciplinary approach[J]. Pathology, 2016, 48(Suppl 1):S90.
[20]
Hayasaka K, Tada K, Fueki N, et al. Prenatal diagnosis of nonketotic lycinemia:enzymatic analysis of the glycine cleavage system in chorionic villi[J]. J Pediatr, 1990, 116(3):444-445.
[21]
De Groot CJ, Troelstra JA, Hommes FA. Nonketotic hyperglycinemia:an in vitro study of the glycine-serine conversion in liver of three patients and the effect of dietary methionine[J]. Pediatr Res, 1970, 4(3):238-243.
[22]
Krieger I, Hart ZH. Valine-sensitive nonketotic hyperglycinemia. Case report[J]. J Pediatr, 1974, 85(1):43-48.
[23]
Steiner RD, Sweetser DA, Rohrbaugh JR, et al. Nonketotic hyperglycinemia:atypical al and biochemical manifestations[J]. J Pediatr, 1996, 128(2):243-246.
[24]
Chien YH, Hsu CC, Huang A, et al. Poor outcome for neonatal-type nonketotic rglycinemia treated with high-dose sodium benzoate and dextromethorphan[J]. J Child Neurol, 2004, 19(1):39-42.
[25]
Wolff JA, Kulovich S, Yu AL, et al. The effectiveness of benzoate in the management of seizures in nonketotic hyperglycinemia[J]. Am J Dis Child, 1986, 140(6):596-602.
[26]
Zammarchi E, Donati MA, Ciani F, et al. Failure of early dextromethorphan and sodium benzoate therapy in an infant with nonketotic hyperglycinemia[J]. Neuropediatrics, 1994, 25(5):274-276.
[27]
Van Hove JL, Vande Kerckhove K, Hennermann JB, et al. Benzoate treatment and the glycine index in nonketotic hyperglycinaemia[J]. J Inherit Metab Dis, 2005, 28(5):651-663.
[28]
Belcastro V, Barbarini M, Barca S, et al. A novel AMT gene mutation in a newborn with nonketotic hyperglycinemia and early myoclonic encephalopathy[J]. Eur J Paediatr Neurol, 2016, 20(1):192-195.
[29]
Bjoraker KJ, Swanson MA, Coughlin CR 2nd, et al. Neurodevelopmental outcome and treatment efficacy of benzoate and dextromethorphan in siblings with attenuated nonketotic hyperglycinemia[J]. J Pediatr, 2016, 170:234-239.
[30]
Cusmai R, Martinelli D, Moavero R, et al. Ketogenic diet in early myoclonic encephalopathy due to non ketotic hyperglycinemia[J]. Eur J Paediatr Neurol, 2012, 16(5):509-513.