AQUEOUS-HUMOR, A POSSIBLE MATERIAL FOR POSTMORTEM METHYLMALONIC ACIDEMIA DIAGNOSIS

被引:6
作者
COUDE, M [1 ]
BONNEFONT, JP [1 ]
CHARPENTIER, C [1 ]
CHADEFAUX, B [1 ]
SAUDUBRAY, JM [1 ]
KAMOUN, P [1 ]
机构
[1] HOP NECKER ENFANTS MALAD,GENET MED CLIN,F-75743 PARIS 15,FRANCE
关键词
D O I
10.1007/BF01805538
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:95 / 96
页数:2
相关论文
共 3 条
[1]   LETHAL MULTIPLE ACYL-COA DEHYDROGENATION DEFICIENCY WITH DYSMORPHIC FEATURES [J].
BENNETT, MJ ;
POLLITT, RJ ;
LAND, JM ;
TURNER, MJ ;
CHEETHAM, CH .
JOURNAL OF INHERITED METABOLIC DISEASE, 1987, 10 (01) :95-96
[2]   STUDIES ON URINARY ACIDIC METABOLITES EXCRETED BY PATIENTS WITH BETA-METHYLCROTONYLGLYCINURIA, PROPIONIC ACIDEMIA AND METHYLMALONIC ACIDEMIA, USING GAS-LIQUID-CHROMATOGRAPHY AND MASS-SPECTROMETRY [J].
CHALMERS, RA ;
LAWSON, AM ;
WATTS, RWE .
CLINICA CHIMICA ACTA, 1974, 52 (01) :43-51
[3]   RAPID PRENATAL AND POSTNATAL DETECTION OF INBORN-ERRORS OF PROPIONATE, METHYLMALONATE, AND COBALAMIN METABOLISM - SENSITIVE ASSAY USING CULTURED-CELLS [J].
WILLARD, HF ;
AMBANI, LM ;
HART, AC ;
MAHONEY, MJ ;
ROSENBERG, LE .
HUMAN GENETICS, 1976, 34 (03) :277-283