一名患有酮症高甘氨酸血症患者的白细胞丙酰辅酶A羧化酶缺乏症 - Suppr

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Leukocyte propionyl-CoA carboxylase deficiency in a patient with ketotic hyperglycinaemia.

作者信息

Del Valle J A, Merinero B, Garciá M J, Ugarte M, Omeñaca F, Neustadt G

出版信息

J Inherit Metab Dis. 1980;3(3):93. doi: 10.1007/BF02312537.

DOI:10.1007/BF02312537

PMID:6775147

Abstract

摘要

相似文献

Leukocyte propionyl-CoA carboxylase deficiency in a patient with ketotic hyperglycinaemia.一名患有酮症高甘氨酸血症患者的白细胞丙酰辅酶A羧化酶缺乏症

J Inherit Metab Dis. 1980;3(3):93. doi: 10.1007/BF02312537.

Hyperglycinemia and propionyl coA carboxylase deficiency and episodic severe illness without consistent ketosis.

J Pediatr. 1975 May;86(5):707-12. doi: 10.1016/s0022-3476(75)80354-4.

Late onset type of propionic acidaemia: case report and biochemical studies.

J Inherit Metab Dis. 1981;4(2):71-2. doi: 10.1007/BF02263596.

Reassessment of biotin-responsiveness in "unresponsive" propionyl CoA carboxylase deficiency.

J Pediatr. 1980 Dec;97(6):964-6. doi: 10.1016/s0022-3476(80)80437-9.

Dysautonomia in an infant with secondary hyperammonemia due to propionyl coenzyme A carboxylase deficiency.

Pediatrics. 1980 Jan;65(1):107-10.

Clinical and biochemical findings on a child with multiple biotin-responsive carboxylase deficiencies.一名患有多种生物素反应性羧化酶缺乏症儿童的临床和生化检查结果。

J Inherit Metab Dis. 1982;5(2):67-8. doi: 10.1007/BF01799990.

Propionyl coenzyme A carboxylase deficiency presenting as non-ketotic hyperglycinaemia.表现为非酮症高甘氨酸血症的丙酰辅酶A羧化酶缺乏症

J Med Genet. 1981 Apr;18(2):156-7. doi: 10.1136/jmg.18.2.156.

Mutations affecting the beta-beta homomeric interaction in propionic acidaemia: an approach to the determination of the beta-propionyl-CoA carboxylase functional domains.

J Inherit Metab Dis. 2000 Jun;23(4):300-4. doi: 10.1023/a:1005617420460.

Acute neonatal nonketotic hyperglycinemia: normal propionate and methylmalonate metabolism.急性新生儿非酮症高甘氨酸血症：丙酸盐和甲基丙二酸代谢正常。

Pediatr Res. 1975 Jul;9(7):559-64. doi: 10.1203/00006450-197507000-00001.

Treatment of a neonate with propionic acidaemia and severe hyperammonaemia by peritoneal dialysis.通过腹膜透析治疗患有丙酸血症和严重高氨血症的新生儿。

Arch Dis Child. 1979 Dec;54(12):962-5. doi: 10.1136/adc.54.12.962.

引用本文的文献

Dietary treatment and biochemical studies on a neonatal case of propionyl-CoA carboxylase deficiency.

J Inherit Metab Dis. 1982;5(2):121-4. doi: 10.1007/BF01800005.

本文引用的文献

Inherited propionyl-Coa carboxylase deficiency in "ketotic hyperglycinemia".“酮症性高甘氨酸血症”中的遗传性丙酰辅酶A羧化酶缺乏症。

J Clin Invest. 1971 Jan;50(1):127-30. doi: 10.1172/JCI106466.

Propionicacidemia (ketotic hyperglycinemia): dietary treatment resulting in normal growth and development.丙酸血症（酮症性高甘氨酸血症）：饮食治疗使生长发育正常。

Pediatrics. 1974 Mar;53(3):391-5.

Localisation of enzymic defect in propionicacidaemia.丙酸血症中酶缺陷的定位

Lancet. 1970 May 30;1(7657):1140-3. doi: 10.1016/s0140-6736(70)91216-x.

Deficiency of propionyl-Co A carboxylase and methylcrotonyl-Co A carboxylase in a patient with methylcrotonylglycinuria.一名患有甲基巴豆酰甘氨酸尿症患者体内丙酰辅酶A羧化酶和甲基巴豆酰辅酶A羧化酶缺乏。

Clin Chim Acta. 1977 May 2;76(3):321-8. doi: 10.1016/0009-8981(77)90158-9.

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