CEREBRO-HEPATO-RENAL SYNDROME OF ZELLWEGER - CLINICAL SYMPTOMS AND RELEVANT LABORATORY FINDINGS IN 16 PATIENTS
CEREBRO-HEPATO-RENAL SYNDROME OF ZELLWEGER - CLINICAL SYMPTOMS AND RELEVANT LABORATORY FINDINGS IN 16 PATIENTS
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DOI：
10.1007/bf00441495
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发表时间：
1982-01-01
影响因子：
3.6
通讯作者：
VANRAAYSELTEN, A
中科院分区：
文献类型：
--
作者：
GOVAERTS, L;MONNENS, L;VANRAAYSELTEN, A
本文报告16例小儿肝肾综合征的临床特点。这些孩子中有5个活了2年以上;其中4个还活着。血清和脑脊液中哌可酸升高、胆汁酸异常和乳酸对羟基苯酯排泄增加是一致的结果。尿中哌可酸浓度并不总是明显升高。DL-哌啶酸负荷试验始终异常。
Clinical features of 16 children with cerebro-hepato-renal syndrome are presented. Five of these children lived over 2 yr; 4 of them are still alive. The increase of pipecolic acid in serum and CSF, the abnormality of the bile acids and the increased excretion of p-hydroxyphenyl lactate were consistent findings. The concentration of pipecolic acid in urine was not always distinctly elevated. A loading test with DL-pipecolic acid was always abnormal.