3-methylglutaconic aciduria: A common biochemical marker in various syndromes with diverse clinical features

被引:22
作者
Gunay-Aygun, M [1 ]
机构
[1] NHGRI, Med Genet Branch, Sect Human Biochem Genet, Bethesda, MD 20892 USA
[2] NIH, Off Director, Off Rare Dis, Intramural Program, Bethesda, MD 20892 USA
关键词
D O I
10.1016/j.ymgme.2004.12.003
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:1 / 3
页数:3
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共 9 条
[1]   Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome):: Identification of the OPA3 gene and its founder mutation in Iraqi Jews [J].
Anikster, Y ;
Kleta, R ;
Shaag, A ;
Gahl, WA ;
Elpeleg, O .
AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (06) :1218-1224
[2]   X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): An update [J].
Barth, PG ;
Valianpour, F ;
Bowen, VM ;
Lam, J ;
Duran, M ;
Vaz, FM ;
Wanders, RJA .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2004, 126A (04) :349-354
[3]  
ELPELEG ON, 1994, DEV MED CHILD NEUROL, V36, P167
[4]   MULTIPLE SYNDROMES OF 3-METHYLGLUTACONIC ACIDURIA [J].
GIBSON, KM ;
ELPELEG, ON ;
JAKOBS, C ;
COSTEFF, H ;
KELLEY, RI .
PEDIATRIC NEUROLOGY, 1993, 9 (02) :120-123
[5]  
ILJST L, 2002, AM J HUM GENET, V71, P1463
[6]   3-METHYLGLUTACONIC ACIDEMIA IN SMITH-LEMLI-OPITZ SYNDROME [J].
KELLEY, RI ;
KRATZ, L .
PEDIATRIC RESEARCH, 1995, 37 (05) :671-674
[7]   X-LINKED DILATED CARDIOMYOPATHY WITH NEUTROPENIA, GROWTH-RETARDATION, AND 3-METHYLGLUTACONIC ACIDURIA [J].
KELLEY, RI ;
CHEATHAM, JP ;
CLARK, BJ ;
NIGRO, MA ;
POWELL, BR ;
SHERWOOD, GW ;
SLADKY, JT ;
SWISHER, WP .
JOURNAL OF PEDIATRICS, 1991, 119 (05) :738-747
[8]  
SWEETMAN L, 2001, METABOLIC MOL BASIS, V2, P2137
[9]   What is the origin of 3-methylglutaconic acid? [J].
Walsh, R ;
Conway, H ;
Roche, G ;
Mayne, PD .
JOURNAL OF INHERITED METABOLIC DISEASE, 1999, 22 (03) :251-255