Carnitine-acylcarnitine translocase deficiency is a treatable disease

被引:10
作者
Al Aqeel, AI
Rashed, MS
Wanders, RJA
机构
[1] Riyadh Armed Forces Hosp, Dept Paediat, Riyadh 11159, Saudi Arabia
[2] King Faisal Specialist Hosp & Res Ctr, Riyadh 11211, Saudi Arabia
[3] Univ Amsterdam, Lab Genet Metab Dis, Amsterdam, Netherlands
关键词
D O I
10.1023/A:1005546408659
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:271 / 275
页数:5
相关论文
共 6 条
[1]   Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents [J].
Brivet, M ;
Slama, A ;
Millington, DS ;
Roe, CR ;
Demaugre, F ;
Legrand, A ;
Boutron, A ;
Poggi, F ;
Saudubray, JM .
JOURNAL OF INHERITED METABOLIC DISEASE, 1996, 19 (02) :181-184
[2]   Mitochondrial carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal death [J].
Chalmers, RA ;
Stanley, CA ;
English, N ;
Wigglesworth, JS .
JOURNAL OF PEDIATRICS, 1997, 131 (02) :220-225
[3]   NEONATAL HYPERAMMONEMIA CAUSED BY A DEFECT OF CARNITINE-ACYLCARNITINE TRANSLOCASE [J].
DEBAULNY, HO ;
SLAMA, A ;
TOUATI, G ;
TURNBULL, DM ;
POURFARZAM, M ;
BRIVET, M .
JOURNAL OF PEDIATRICS, 1995, 127 (05) :723-728
[4]   CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY WITH SEVERE HYPOGLYCEMIA AND ATRIOVENTRICULAR-BLOCK - TRANSLOCASE ASSAY IN PERMEABILIZED FIBROBLASTS [J].
PANDE, SV ;
BRIVET, M ;
SLAMA, A ;
DEMAUGRE, F ;
AUFRANT, C ;
SAUDUBRAY, JM .
JOURNAL OF CLINICAL INVESTIGATION, 1993, 91 (03) :1247-1252
[5]   DIAGNOSIS OF INBORN-ERRORS OF METABOLISM FROM BLOOD SPOTS BY ACYLCARNITINES AND AMINO-ACIDS PROFILING USING AUTOMATED ELECTROSPRAY TANDEM MASS-SPECTROMETRY [J].
RASHED, MS ;
OZAND, PT ;
BUCKNALL, MP ;
LITTLE, D .
PEDIATRIC RESEARCH, 1995, 38 (03) :324-331
[6]  
Rashed MS, 1997, CLIN CHEM, V43, P1129