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Glutaric aciduria type II, an unusual cause of prenatal polycystic kidneys: report of prenatal diagnosis and confirmation of autosomal recessive inheritance.

作者信息

Hockey A, Knowles S, Davies D, Carey W, Hurst J, Goldblatt J

机构信息

Department of Genetics, King Edward Memorial Hospital for Women, Subiaco, Perth, Western Australia.

出版信息

Birth Defects Orig Artic Ser. 1993;29(1):373-82.

PMID:8280889
Abstract
摘要

相似文献

1
Glutaric aciduria type II, an unusual cause of prenatal polycystic kidneys: report of prenatal diagnosis and confirmation of autosomal recessive inheritance.
Birth Defects Orig Artic Ser. 1993;29(1):373-82.
2
Fetal polycystic kidney disease associated with glutaric aciduria type II: an inborn error of energy metabolism.与II型戊二酸尿症相关的胎儿多囊肾病：一种能量代谢的先天性疾病。
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Prenatal diagnosis of autosomal recessive polycystic kidney disease. A case report.常染色体隐性多囊肾病的产前诊断。病例报告。
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Magnetic resonance imaging findings of adult-onset glutaric aciduria type I.成人型I型戊二酸血症的磁共振成像表现
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Meckel-Gruber syndrome: ultrasonographic and fetal autopsy correlation.梅克尔-格鲁伯综合征：超声检查与胎儿尸检的相关性
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[Glutaric aciduria type I: report of a case].[I型戊二酸血症：一例报告]
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[Echographic screening for autosomal dominant polycystic kidney disease from intrauterine life to adult life].[从宫内期至成年期对常染色体显性多囊肾病进行超声筛查]
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10
Recurrent fetal polycystic kidneys associated with glutaric aciduria type II.复发性胎儿多囊肾合并II型戊二酸尿症
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引用本文的文献

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Disorders of fatty acid oxidation and autosomal recessive polycystic kidney disease-different clinical entities and comparable perinatal renal abnormalities.脂肪酸氧化紊乱与常染色体隐性多囊肾病——不同的临床实体及相似的围产期肾脏异常
Pediatr Nephrol. 2017 May;32(5):791-800. doi: 10.1007/s00467-016-3556-5. Epub 2017 Jan 12.
2
A novel ETFB mutation in a patient with glutaric aciduria type II.一名II型戊二酸尿症患者中的一种新型ETFB突变。
Hum Genome Var. 2015 Jun 18;1:15016. doi: 10.1038/hgv.2015.16. eCollection 2015.
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