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N-acetylaspartic aciduria: report of three new cases in children with a neurological syndrome associating macrocephaly and leukodystrophy.

作者信息

Divry P, Vianey-Liaud C, Gay C, Macabeo V, Rapin F, Echenne B

机构信息

Laboratoire de Biochimie, Hôpital Debrousse, Lyon, France.

出版信息

J Inherit Metab Dis. 1988;11(3):307-8. doi: 10.1007/BF01800378.

DOI:10.1007/BF01800378
PMID:3148075
Abstract
摘要

相似文献

1
N-acetylaspartic aciduria: report of three new cases in children with a neurological syndrome associating macrocephaly and leukodystrophy.
J Inherit Metab Dis. 1988;11(3):307-8. doi: 10.1007/BF01800378.
2
[N-acetylaspartic aciduria. Clinical, biological and physiopathological study].[N-乙酰天门冬氨酸尿症。临床、生物学及生理病理学研究]
Arch Fr Pediatr. 1991 Jun-Jul;48(6):409-13.
3
N-acetylaspartic aciduria in a child with a progressive cerebral atrophy.一名患有进行性脑萎缩儿童的N-乙酰天门冬氨酸尿症
Clin Chim Acta. 1986 Aug 15;158(3):217-27. doi: 10.1016/0009-8981(86)90285-8.
4
N-acetylaspartic aciduria due to aspartoacylase deficiency--a new aetiology of childhood leukodystrophy.天冬氨酸酰基转移酶缺乏所致的N-乙酰天冬氨酸尿症——儿童脑白质营养不良的一种新病因。
J Inherit Metab Dis. 1987;10(2):135-41. doi: 10.1007/BF01800038.
5
Canavan disease: value of N-acetylaspartic aciduria?卡纳万病：N-乙酰天门冬氨酸尿症的价值？
Neuropediatrics. 1991 May;22(2):III.
6
Mild elevation of N-acetylaspartic acid and macrocephaly: diagnostic problem.N-乙酰天门冬氨酸轻度升高与巨头症：诊断难题
J Child Neurol. 2003 Nov;18(11):809-12. doi: 10.1177/08830738030180111601.
7
N-acetylaspartic aciduria in Canavan disease: another proof in two infants.卡纳万病中的N-乙酰天门冬氨酸尿症：两名婴儿的又一病例证明
Neuropediatrics. 1990 Aug;21(3):140-2. doi: 10.1055/s-2008-1071481.
8
N-acetylaspartic aciduria in young age.幼年型N-乙酰天门冬氨酸尿症
Neuropediatrics. 1992 Apr;23(2):112. doi: 10.1055/s-2008-1071324.
9
Protracted course of N-acetylaspartic aciduria in two non-Jewish siblings: identical clinical and magnetic resonance imaging findings.两名非犹太裔兄弟姐妹的N-乙酰天门冬氨酸尿症病程迁延：相同的临床和磁共振成像表现
Brain Dev. 1999 Apr;21(3):205-8.
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Spongy degeneration of the neuraxis (Canavan-van Bogaert disease) and N-acetylaspartic aciduria.神经轴索海绵状变性（卡纳万-范博加特病）和N-乙酰天门冬氨酸尿症
Neuropediatrics. 1989 May;20(2):79-81. doi: 10.1055/s-2008-1071269.

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Cellular and molecular mechanisms of aspartoacylase and its role in Canavan disease.天冬氨酸酰基转移酶的细胞和分子机制及其在卡纳万病中的作用。
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Canavan Disease: Clinical and Laboratory Profile from Southern Part of India.卡纳万病：来自印度南部的临床和实验室资料
Ann Indian Acad Neurol. 2021 May-Jun;24(3):347-350. doi: 10.4103/aian.AIAN_386_20. Epub 2020 Dec 1.
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The Clinical Features and Diagnosis of Canavan's Disease: A Case Series of Iranian Patients.卡纳万病的临床特征与诊断：一组伊朗患者病例系列

本文引用的文献

1
N-acetylaspartic aciduria in a child with a progressive cerebral atrophy.一名患有进行性脑萎缩儿童的N-乙酰天门冬氨酸尿症
Clin Chim Acta. 1986 Aug 15;158(3):217-27. doi: 10.1016/0009-8981(86)90285-8.
2
N-acetylaspartic aciduria due to aspartoacylase deficiency--a new aetiology of childhood leukodystrophy.天冬氨酸酰基转移酶缺乏所致的N-乙酰天冬氨酸尿症——儿童脑白质营养不良的一种新病因。
J Inherit Metab Dis. 1987;10(2):135-41. doi: 10.1007/BF01800038.
Iran J Child Neurol. 2014 Fall;8(4):66-71.
4
Carboxypeptidases in disease: insights from peptidomic studies.疾病中的羧肽酶：肽组学研究的新视角。
Proteomics Clin Appl. 2014 Jun;8(5-6):327-37. doi: 10.1002/prca.201300090. Epub 2014 Mar 24.
5
N-acetylaspartic acid (NAA) and N-acetylaspartylglutamic acid (NAAG) in human ventricular, subarachnoid, and lumbar cerebrospinal fluid.人心室、蛛网膜下腔和腰椎脑脊液中的N-乙酰天门冬氨酸（NAA）和N-乙酰天门冬氨酰谷氨酸（NAAG）
Neurochem Res. 1999 Oct;24(10):1249-61. doi: 10.1023/a:1020973023059.
6
Physiology and pathophysiology of organic acids in cerebrospinal fluid.脑脊液中有机酸的生理学与病理生理学
J Inherit Metab Dis. 1993;16(4):648-69. doi: 10.1007/BF00711898.
7
Reliable prenatal diagnosis of Canavan disease (aspartoacylase deficiency): comparison of enzymatic and metabolite analysis.Canavan病（天冬氨酸酰基转移酶缺乏症）的可靠产前诊断：酶学分析与代谢物分析的比较
J Inherit Metab Dis. 1993;16(5):831-6. doi: 10.1007/BF00714274.
8
Magnetic resonance imaging in juvenile Canavan disease.青少年型卡纳万病的磁共振成像
Eur J Pediatr. 1993 Sep;152(9):750-3. doi: 10.1007/BF01953994.
9
The frequency of the C854 mutation in the aspartoacylase gene in Ashkenazi Jews in Israel.以色列德系犹太人中天冬氨酸酰基转移酶基因C854突变的频率。
Am J Hum Genet. 1994 Aug;55(2):287-8.
10
Prenatal detection of Canavan disease (aspartoacylase deficiency) by DNA analysis.通过DNA分析对卡纳万病（天冬氨酸酰基转移酶缺乏症）进行产前检测。
J Inherit Metab Dis. 1994;17(6):664-6. doi: 10.1007/BF00712008.