Recent progress in our knowledge of cystinosis.
作者信息
Kroll W, Schneider J A
出版信息
Clin Endocrinol Metab. 1974 Mar;3(1):57-69. doi: 10.1016/s0300-595x(74)80025-3.
PMID:4609649
Abstract
摘要
相似文献
1
Recent progress in our knowledge of cystinosis.
Clin Endocrinol Metab. 1974 Mar;3(1):57-69. doi: 10.1016/s0300-595x(74)80025-3.
2
Biochemical comparisons of the adult and childhood forms of cystinosis.胱氨酸病成人型与儿童型的生化比较。
N Engl J Med. 1968 Dec 5;279(23):1253-7. doi: 10.1056/NEJM196812052792303.
3
Cystinosis and its therapy.
N Engl J Med. 1979 Apr 5;300(14):789-90. doi: 10.1056/NEJM197904053001410.
4
Adolescent cystinosis: comparisons with infantile and adult forms.
Pediatrics. 1971 Jun;47(6):979-88.
5
Prenatal diagnosis of nephropathic cystinosis. Pregnancy at risk ascertained through heterozygote diagnosis of parents.肾病型胱氨酸病的产前诊断。通过对父母进行杂合子诊断确定有风险的妊娠。
Acta Paediatr Scand. 1981;70(3):389-93. doi: 10.1111/j.1651-2227.1981.tb16569.x.
6
Cystinosis: a review.
Metabolism. 1977 Jul;26(7):817-39. doi: 10.1016/0026-0495(77)90070-1.
7
Lysosomal cystine counter-transport in heterozygotes for cystinosis.胱氨酸病杂合子中的溶酶体胱氨酸逆向转运
Am J Hum Genet. 1984 Mar;36(2):277-82.
8
Cystinosis phenotypes have identical defective cystine clearance pattern.胱氨酸病的表型具有相同的缺陷性胱氨酸清除模式。
Biomed Pharmacother. 1987;41(9-10):473-7.
9
The early diagnosis of cystinosis.胱氨酸病的早期诊断。
J Pediatr. 1969 Jan;74(1):114-6. doi: 10.1016/s0022-3476(69)80017-x.
10
The pathogenesis of cystinosis: mechanisms beyond cystine accumulation.胱氨酸病的发病机制：胱氨酸蓄积以外的机制。
Am J Physiol Renal Physiol. 2010 Nov;299(5):F905-16. doi: 10.1152/ajprenal.00318.2010. Epub 2010 Sep 8.
Zotero 插件