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Cerebro-hepato-renal syndrome. A newly recognized hereditary disorder of multiple congenital defects, including sudanophilic leukodystrophy, cirrhosis of the liver, and polycystic kidneys.

作者信息

Passarge E, McAdams A J

出版信息

J Pediatr. 1967 Nov;71(5):691-702. doi: 10.1016/s0022-3476(67)80205-1.

DOI:10.1016/s0022-3476(67)80205-1
PMID:4383264
Abstract
摘要

相似文献

1
Cerebro-hepato-renal syndrome. A newly recognized hereditary disorder of multiple congenital defects, including sudanophilic leukodystrophy, cirrhosis of the liver, and polycystic kidneys.脑肝肾综合征。一种新发现的遗传性疾病,伴有多种先天性缺陷,包括嗜苏丹性脑白质营养不良、肝硬化和多囊肾。
J Pediatr. 1967 Nov;71(5):691-702. doi: 10.1016/s0022-3476(67)80205-1.
2
Cerebro-hepato-renal syndrome. Report of a case.脑肝肾综合征。一例报告。
Helv Paediatr Acta. 1969 Aug;24(4):352-60.
3
A syndrome of multiple developmental defects including polycystic kidneys and intrahepatic biliary dysgenesis in 2 siblings.
J Pediatr. 1965 Oct;67(4):617-24. doi: 10.1016/s0022-3476(65)80433-4.
4
[A child with Zellweger's cerebrohepatorenal syndrome].
Tijdschr Kindergeneeskd. 1983 Apr;51(2):65-7.
5
Syndrome of retardation with urogenital and skeletal anomalies (Smith-Lemli-Opitz syndrome): clinical features and mode of inheritance.伴有泌尿生殖系统和骨骼异常的发育迟缓综合征(史密斯-勒米-奥皮茨综合征):临床特征及遗传方式
J Med Genet. 1969 Jun;6(2):113-20. doi: 10.1136/jmg.6.2.113.
6
Postnatal sudanophilic leukodystrophy in two siblings.两名兄弟姐妹的产后嗜苏丹性脑白质营养不良
Acta Neuropathol. 1985;67(1-2):103-13. doi: 10.1007/BF00688130.
7
Arteriohepatic dysplasia: familial pulmonary arterial stenosis with neonatal liver disease.动脉肝发育不良:伴有新生儿肝病的家族性肺动脉狭窄。
Arch Dis Child. 1973 Jun;48(6):459-66. doi: 10.1136/adc.48.6.459.
8
Genetics of the Meckel syndrome (dysencephalia splanchnocystica).梅克尔综合征(内脏囊肿性脑发育不全)的遗传学
Pediatrics. 1971 Aug;48(2):237-47.
9
SUBCAPSULAR HEMORRHAGE OF THE LIVER IN THE NEWBORN. AN INQUIRY INTO ITS CAUSES.新生儿肝脏被膜下出血。病因探究。
Clin Pediatr (Phila). 1964 Jul;3:428-31. doi: 10.1177/000992286400300709.
10
The roentgenographic manifestations of the rubella syndrome in newborn infants.新生儿风疹综合征的X线表现。
Am J Roentgenol Radium Ther Nucl Med. 1966 May;97(1):82-91. doi: 10.2214/ajr.97.1.82.

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Macrocephaly and Finger Changes: A Narrative Review.大头畸形和手指改变:一篇叙述性综述。
Int J Mol Sci. 2024 May 20;25(10):5567. doi: 10.3390/ijms25105567.
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Ribosomal readthrough at a short UGA stop codon context triggers dual localization of metabolic enzymes in Fungi and animals.在短UGA终止密码子背景下的核糖体通读触发真菌和动物中代谢酶的双重定位。
PLoS Genet. 2014 Oct 23;10(10):e1004685. doi: 10.1371/journal.pgen.1004685. eCollection 2014 Oct.
3
Contribution of fetal MR imaging in the prenatal diagnosis of Zellweger syndrome.
胎儿磁共振成像在脑肝肾综合征产前诊断中的作用
AJNR Am J Neuroradiol. 2006 Feb;27(2):333-6.
4
Peroxisomal disorders: clinical, biochemical, and molecular aspects.过氧化物酶体疾病:临床、生化及分子层面
Neurochem Res. 1999 Apr;24(4):565-80. doi: 10.1023/a:1022592014988.
5
Zellweger syndrome and associated phenotypes.泽尔韦格综合征及相关表型。
J Med Genet. 1996 Oct;33(10):863-8. doi: 10.1136/jmg.33.10.863.
6
Cerebrohepatorenal (Zellweger) syndrome: clinical, neuropathological, and biochemical findings.脑肝肾(泽尔韦格)综合征:临床、神经病理学及生化检查结果
Childs Nerv Syst. 1995 Nov;11(11):639-42. doi: 10.1007/BF00300721.
7
Glomerulocystic kidney disease--nosological considerations.肾小球囊性肾病——疾病分类学考量
Pediatr Nephrol. 1993 Aug;7(4):464-70. doi: 10.1007/BF00857576.
8
A Golgi study of the brain malformation in Zellweger's cerebro-hepato-renal disease.关于齐尔韦格脑肝肾综合征中脑畸形的高尔基体研究。
Acta Neuropathol. 1981;55(1):23-8. doi: 10.1007/BF00691526.
9
[Morphology and diagnosis of Zellweger syndrome. A contribution to combined cytochemical-finestructural identification of peroxisomes in autopsy material and frozen liver tissue with case report].[脑肝肾综合征的形态学与诊断。对尸检材料和冰冻肝组织中过氧化物酶体进行细胞化学-超微结构联合鉴定并附病例报告]
Virchows Arch A Pathol Anat Histol. 1981;393(1):103-14. doi: 10.1007/BF00430874.
10
The kidney and liver diseases.肾脏和肝脏疾病。
J Clin Pathol. 1981 Nov;34(11):1241-4. doi: 10.1136/jcp.34.11.1241.