Familial dysautonomia: A 47-year perspective how technology confirms clinical acumen

被引:6
作者
Axelrod, FB
机构
[1] NYU Med Ctr, Dept Pediat, New York, NY 10016 USA
[2] NYU Med Ctr, Dept Neurol, New York, NY 10016 USA
关键词
D O I
10.1016/S0022-3476(98)70521-9
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
A historical perspective of familial dysautonomia is presented, highlighting the early contributions of Dr. Joseph Dancis, hs further investigations proceeded, his original observations have withstood the test of time and may contribute to determining the molecular abnormality in this rare genetic disorder. Dr. Dancis's work in this area serves as a model of hens observations based on clinical acumen and critical thinking can be verified by future technological advances.
引用
收藏
页码:S2 / S5
页数:4
相关论文
共 41 条
[1]   PERIPHERAL NERVE ABNORMALITIES IN RILEY-DAY SYNDROME - FINDINGS IN ASURAL NERVE BIOPSY [J].
AGUAYO, AJ ;
NAIR, CPV ;
BRAY, GM .
ARCHIVES OF NEUROLOGY, 1971, 24 (02) :106-&
[2]  
Axelrod F B, 1974, Adv Pediatr, V21, P75
[3]   Pattern of plasma levels of catecholamines in familial dysautonomia [J].
Axelrod, FB ;
Goldstein, DS ;
Holmes, C ;
Berlin, D ;
Kopin, IJ .
CLINICAL AUTONOMIC RESEARCH, 1996, 6 (04) :205-209
[4]  
AXELROD FB, 1981, PEDIATRICS, V67, P517
[5]   Electrocardiographic measures and heart rate variability in patients with familial dysautonomia [J].
Axelrod, FB ;
Putman, D ;
Berlin, D ;
Rutkowski, M .
CARDIOLOGY, 1997, 88 (02) :133-140
[6]   FAMILIAL DYSAUTONOMIA - A PROSPECTIVE-STUDY OF SURVIVAL [J].
AXELROD, FB ;
ABULARRAGE, JJ .
JOURNAL OF PEDIATRICS, 1982, 101 (02) :234-236
[7]  
AXELROD FB, 1996, CURRENT PEDIAT THERA, P91
[8]   LOCALIZATION OF THE GENE FOR FAMILIAL DYSAUTONOMIA ON CHROMOSOME-9 AND DEFINITION OF DNA MARKERS FOR GENETIC DIAGNOSIS [J].
BLUMENFELD, A ;
SLAUGENHAUPT, SA ;
AXELROD, FB ;
LUCENTE, DE ;
MAAYAN, C ;
LIEBERT, CB ;
OZELIUS, LJ ;
TROFATTER, JA ;
HAINES, JL ;
BREAKEFIELD, XO ;
GUSELLA, JF .
NATURE GENETICS, 1993, 4 (02) :160-164
[9]   PERSONALITY-DEVELOPMENT AND FAMILIAL DYSAUTONOMIA [J].
CLAYSON, D ;
WELTON, W ;
AXELROD, FB .
PEDIATRICS, 1980, 65 (02) :269-274
[10]   FAMILIAL DYSAUTONOMIA - CASE REPORT WITH AUTOPSY [J].
COHEN, P ;
SOLOMON, NH .
JOURNAL OF PEDIATRICS, 1955, 46 (06) :663-670