[Lethal familial neonatal ketotic hyperammonemia].
作者信息
Pauli A, Huguet J, Rollet M, Cousin J, Farriaux J P, Fournier A, Navarro J, Cathelineau L, Aymard P, Saudubray J M, Polonovski C, Laplane R
出版信息
Arch Fr Pediatr. 1972 Aug-Sep;29(7):699-712.
PMID:4644460
Abstract
摘要
相似文献
1
[Lethal familial neonatal ketotic hyperammonemia].[致死性家族性新生儿酮症高氨血症]
Arch Fr Pediatr. 1972 Aug-Sep;29(7):699-712.
2
3
Ornithine transcarbamylase deficiency: a cause of lethal neonatal hyperammonemia in males.鸟氨酸转氨甲酰酶缺乏症：男性致死性新生儿高氨血症的一个病因。
N Engl J Med. 1973 Jan 4;288(1):1-6. doi: 10.1056/NEJM197301042880101.
4
Hyperglycinemia with ketoacidosis and leukopenia. Metabolic studies on the nature of the defect.高甘氨酸血症伴酮症酸中毒和白细胞减少症。关于缺陷本质的代谢研究。
Pediatrics. 1967 Jun;39(6):818-28.
5
A block in glycine cleavage reaction as a common mechanism in ketotic and nonketotic hyperglycinemia.甘氨酸裂解反应受阻作为酮症和非酮症高甘氨酸血症的共同机制。
Pediatr Res. 1974 Jul;8(7):721-3. doi: 10.1203/00006450-197407000-00007.
6
Hyperglycinemia with ketosis due to a defect in isoleucine metabolism: a preliminary report.由于异亮氨酸代谢缺陷导致的高甘氨酸血症伴酮症：初步报告。
Pediatrics. 1972 Dec;50(6):890-5.
7
[Hereditary hyperammonemia due to qualitative abnormality of hepatic and intestinal ornithine carbamoyl-transferase].[由于肝脏和肠道鸟氨酸氨基甲酰转移酶的质量异常导致的遗传性高氨血症]
Arch Fr Pediatr. 1972 Aug-Sep;29(7):713-36.
8
The implications of hyperammonemia in rare and common disorders, including migraine.高氨血症在包括偏头痛在内的罕见和常见疾病中的影响。
Mt Sinai J Med. 1973 Sep-Oct;40(5):609-30.
9
Lethal neonatal argininosuccinate lyase deficiency in four children from one sibship.来自一个同胞家族的四名儿童患有致死性新生儿精氨琥珀酸裂解酶缺乏症。
Helv Paediatr Acta. 1976 Dec;31(4-5):407-17.
10
Lysinuric protein intolerance.赖氨酸尿性蛋白不耐受症
Birth Defects Orig Artic Ser. 1974;10(4):201-7.
Zotero 插件