Aromatic L-amino acid decarboxylase deficiency: A new case with a mild clinical presentation and unexpected laboratory findings

被引:32
作者
Abeling, NGGM
van Gennip, AH
Barth, PG
van Cruchten, A
Westra, M
Wijburg, FA
机构
[1] Univ Amsterdam, Acad Med Ctr, Dept Clin Chem, Lab Genet Metab Dis, NL-1100 DE Amsterdam, Netherlands
[2] Emma Childrens Hosp, Amsterdam, Netherlands
[3] Ziekenhuis De Heel, Zaandam, Netherlands
关键词
D O I
10.1023/A:1005307919767
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:240 / 242
页数:3
相关论文
共 4 条
[1]   SIMULTANEOUS DETERMINATION OF CATECHOLAMINES AND METANEPHRINES IN URINE BY HPLC WITH FLUOROMETRIC DETECTION [J].
ABELING, NG ;
VANGENNIP, AH ;
OVERMARS, H ;
VOUTE, PA .
CLINICA CHIMICA ACTA, 1984, 137 (02) :211-226
[2]  
HYLAND K, 1992, CLIN CHEM, V38, P2405
[3]   AROMATIC AMINO-ACID DECARBOXYLASE DEFICIENCY IN TWINS [J].
HYLAND, K ;
CLAYTON, PT .
JOURNAL OF INHERITED METABOLIC DISEASE, 1990, 13 (03) :301-304
[4]  
STROOMER AEM, 1990, CLIN CHEM, V36, P1834