非酮症高甘氨酸血症产前诊断的可行性：胎盘甘氨酸裂解系统的存在 - Suppr

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超能文献

Feasibility of prenatal diagnosis of nonketotic hyperglycinemia: existence of the glycine cleavage system in placenta.

作者信息

Hayasaka K, Tada K, Fueki N, Takahashi I, Igarashi A, Takabayashi T, Baumgartner R

出版信息

J Pediatr. 1987 Jan;110(1):124-6. doi: 10.1016/s0022-3476(87)80305-0.

DOI:10.1016/s0022-3476(87)80305-0

PMID:3794872

Abstract

摘要

相似文献

Feasibility of prenatal diagnosis of nonketotic hyperglycinemia: existence of the glycine cleavage system in placenta.非酮症高甘氨酸血症产前诊断的可行性：胎盘甘氨酸裂解系统的存在

J Pediatr. 1987 Jan;110(1):124-6. doi: 10.1016/s0022-3476(87)80305-0.

Prenatal diagnosis of nonketotic hyperglycinemia: enzymatic analysis of the glycine cleavage system in chorionic villi.非酮症高甘氨酸血症的产前诊断：绒毛膜绒毛中甘氨酸裂解系统的酶学分析。

J Pediatr. 1990 Mar;116(3):444-5. doi: 10.1016/s0022-3476(05)82841-0.

[Initial experiences with the prenatal diagnosis of congenital disorders in the 8th-9th pregnancy week by analysis of the chorionic villi].[孕8-9周通过绒毛膜绒毛分析进行先天性疾病产前诊断的初步经验]

Ned Tijdschr Geneeskd. 1984 Mar 10;128(10):436-42.

Nonketotic hyperglycinemia: clinical and metabolic aspects.非酮症高甘氨酸血症：临床与代谢方面

Enzyme. 1987;38(1-4):27-35. doi: 10.1159/000469187.

[Prenatal diagnosis in the first trimester of pregnancy].[妊娠早期的产前诊断]

Ned Tijdschr Geneeskd. 1984 Mar 10;128(10):460-2.

[Chromosome analysis from uncultured chorionic villi obtained by transcervical aspiration during the 1st trimester of pregnancy].

Orv Hetil. 1984 Mar 4;125(10):567-8, 571.

Nonketotic hyperglycinemia. Glycine accumulation due to absence of glycerine cleavage in brain.非酮症高甘氨酸血症。由于大脑中缺乏甘油裂解导致甘氨酸蓄积。

N Engl J Med. 1975 Jun 12;292(24):1269-73. doi: 10.1056/NEJM197506122922404.

Prenatal diagnosis of nonketotic hyperglycinemia.非酮症高甘氨酸血症的产前诊断

N Engl J Med. 1982 Jan 14;306(2):79-81. doi: 10.1056/NEJM198201143060205.

Ferritin in chorionic villi of the sheep placenta.绵羊胎盘绒毛膜中的铁蛋白。

Bibl Anat. 1982(22):117-22.

Glycine/serine ratios in amniotic fluid: an unreliable indicator for the prenatal diagnosis of nonketotic hyperglycinemia.羊水甘氨酸/丝氨酸比值：非酮症高甘氨酸血症产前诊断的不可靠指标。

Clin Genet. 1983 May;23(5):354-8. doi: 10.1111/j.1399-0004.1983.tb00445.x.

引用本文的文献

Partitioning of glutamine synthesised by the isolated perfused human placenta between the maternal and fetal circulations.离体灌流人胎盘内合成的谷氨酰胺在母血和胎血循环之间的分配。

Placenta. 2013 Dec;34(12):1223-31. doi: 10.1016/j.placenta.2013.10.003. Epub 2013 Oct 23.

Non-ketotic hyperglycinaemia: molecular lesion, diagnosis and pathophysiology.非酮症高甘氨酸血症：分子病变、诊断与病理生理学

J Inherit Metab Dis. 1993;16(4):691-703. doi: 10.1007/BF00711901.

Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia.导致典型和非典型非酮症高甘氨酸血症的T蛋白基因突变的鉴定。

Hum Genet. 1994 Jun;93(6):655-8. doi: 10.1007/BF00201565.

Use of placental enzyme analysis in assessment of the newborn at risk for non-ketotic hyperglycinaemia (NKH).胎盘酶分析在评估有非酮症高甘氨酸血症（NKH）风险的新生儿中的应用。

J Inherit Metab Dis. 1989;12(3):281-5. doi: 10.1007/BF01799218.

A survey on prenatal diagnosis of inherited metabolic diseases in Japan.日本遗传性代谢疾病产前诊断调查。

J Inherit Metab Dis. 1989;12 Suppl 2:260-2. doi: 10.1007/BF03335392.

Prenatal diagnosis of non-ketotic hyperglycinaemia.

J Inherit Metab Dis. 1992;15(5):713-9. doi: 10.1007/BF01800011.

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