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Nonketotic hyperglycinemia.

作者信息

Baumgartner R, Ando T, Nyhan W L

出版信息

J Pediatr. 1969 Dec;75(6):1022-30. doi: 10.1016/s0022-3476(69)80341-0.

DOI:10.1016/s0022-3476(69)80341-0
PMID:5352828
Abstract
摘要

相似文献

1
Nonketotic hyperglycinemia.
J Pediatr. 1969 Dec;75(6):1022-30. doi: 10.1016/s0022-3476(69)80341-0.
2
Nonketotic hyperglycinemia: an in vitro study of the glycine-serine conversion in liver of three patients and the effect of dietary methionine.非酮症高甘氨酸血症：三名患者肝脏中甘氨酸-丝氨酸转化的体外研究及膳食蛋氨酸的影响。
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3
Valine-sensitive nonketotic hyperglycinemia. Case report.
J Pediatr. 1974 Jul;85(1):43-8. doi: 10.1016/s0022-3476(74)80283-0.
4
Treatment of hyperglycinemia.
Am J Dis Child. 1967 Jan;113(1):129-33. doi: 10.1001/archpedi.1967.02090160179028.
5
A patient with nonketotic hyperglycinemia: biochemical findings and therapeutic approaches.一名非酮症高甘氨酸血症患者：生化检查结果及治疗方法
Pediatr Res. 1974 May;8(5):598-605. doi: 10.1203/00006450-197405000-00009.
6
The clinical findings in a patient with nonketotic hyperglycinemia.一名非酮症高甘氨酸血症患者的临床检查结果。
Z Kinderheilkd. 1973;114(3):191-204. doi: 10.1007/BF00497423.
7
[Clinical findings and therapeutic problems in nonketotic hyperglycinemia].
Monatsschr Kinderheilkd (1902). 1973 Jul;121(7):401-3.
8
Nonketotic hyperglycinaemia. Clinical findings and amino acid analyses on the plasma of a new case.
Clin Chim Acta. 1970 Dec;30(3):745-9. doi: 10.1016/0009-8981(70)90270-6.
9
Early treatment of severe infantile glycine encephalopathy (nonketotic hyperglycinemia) with strychnine and sodium benzoate.
Prog Clin Biol Res. 1979;34:217-29.
10
The clinical findings in a patient with nonketotic hyperglycinemia.
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引用本文的文献

1
Cerebrospinal fluid amino acids glycine, serine, and threonine in nonketotic hyperglycinemia.非酮症性高甘氨酸血症患者脑脊液中的氨基酸：甘氨酸、丝氨酸和苏氨酸。
J Inherit Metab Dis. 2022 Jul;45(4):734-747. doi: 10.1002/jimd.12500. Epub 2022 Apr 6.
2
Regulation of glycine metabolism by the glycine cleavage system and conjugation pathway in mouse models of non-ketotic hyperglycinemia.甘氨酸分解系统和结合途径对非酮性高甘氨酸血症小鼠模型中甘氨酸代谢的调控。
J Inherit Metab Dis. 2020 Nov;43(6):1186-1198. doi: 10.1002/jimd.12295. Epub 2020 Aug 11.
3
Glycine cleavage system: reaction mechanism, physiological significance, and hyperglycinemia.
甘氨酸裂解系统：反应机制、生理意义及高甘氨酸血症
Proc Jpn Acad Ser B Phys Biol Sci. 2008;84(7):246-63. doi: 10.2183/pjab.84.246.
4
Hypoglycinaemia and psychomotor delay in a child with xeroderma pigmentosum.一名着色性干皮病患儿的低血糖症与精神运动发育迟缓
J Inherit Metab Dis. 1999 Dec;22(8):915-24. doi: 10.1023/a:1005691424004.
5
The effect of hyperphenylalaninaemia on glycine metabolism in developing rat brain.高苯丙氨酸血症对发育中大鼠脑内甘氨酸代谢的影响。
Biochem J. 1980 Nov 15;192(2):441-8. doi: 10.1042/bj1920441.
6
Non-ketotic hyperglycinaemia: clinical and biochemical aspects.
Eur J Pediatr. 1987 May;146(3):221-7. doi: 10.1007/BF00716464.
7
Aminoacidopathies: a review of 3 years experience of investigations in a Kuwait hospital.氨基酸病：科威特一家医院三年调查经验综述
J Inherit Metab Dis. 1988;11(3):277-84. doi: 10.1007/BF01800370.
8
Clinical effects of serine medication in non-ketotic hyperglycinaemia due to deficiency of P-protein of the glycine cleavage complex.丝氨酸药物治疗甘氨酸裂解复合物P蛋白缺乏所致非酮症高甘氨酸血症的临床疗效。
J Inherit Metab Dis. 1988;11 Suppl 2:218-20. doi: 10.1007/BF01804240.
9
Excretion of hippuric acid during sodium benzoate therapy in patients with hyperglycinaemia or hyperammonaemia.高甘氨酸血症或高氨血症患者在苯甲酸钠治疗期间马尿酸的排泄情况。
J Inherit Metab Dis. 1989;12(1):72-9. doi: 10.1007/BF01805533.
10
The glycine cleavage system: structure of a cDNA encoding human H-protein, and partial characterization of its gene in patients with hyperglycinemias.甘氨酸裂解系统：编码人H蛋白的cDNA结构及其在高甘氨酸血症患者中的基因部分特征
Am J Hum Genet. 1991 Feb;48(2):351-61.