NTBC and alkaptonuria

被引:37
作者
Anikster, Y
Nyhan, WL
Gahl, WA
机构
[1] NICHHD, Sect Human Biochem Genet, Heritable Disorders Branch, NIH, Bethesda, MD 20892 USA
[2] NICHHD, Med Genet Branch, Natl Human Genome Res Inst, NIH, Bethesda, MD 20892 USA
[3] Univ Calif San Diego, Dept Pediat, San Diego, CA 92103 USA
关键词
D O I
10.1086/302027
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:920 / 921
页数:2
相关论文
共 10 条
[1]  
Gahl WA, 1995, METABOLIC MOL BASIS, V7th, P3763
[2]   PERIPHERAL NEUROPATHY AS THE PRESENTING FEATURE OF TYROSINEMIA TYPE-I AND EFFECTIVELY TREATED WITH AN INHIBITOR OF 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE [J].
GIBBS, TC ;
PAYAN, J ;
BRETT, EM ;
LINDSTEDT, S ;
HOLME, E ;
CLAYTON, PT .
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1993, 56 (10) :1129-1132
[3]   PHARMACOLOGICAL CORRECTION OF NEONATAL LETHAL HEPATIC-DYSFUNCTION IN A MURINE MODEL OF HEREDITARY TYROSINEMIA TYPE-I [J].
GROMPE, M ;
LINDSTEDT, S ;
ALDHALIMY, M ;
KENNAWAY, NG ;
PAPACONSTANTINOU, J ;
TORRESRAMOS, CA ;
OU, CN ;
FINEGOLD, M .
NATURE GENETICS, 1995, 10 (04) :453-460
[4]   EFFECTS OF EARLY CYSTEAMINE THERAPY ON THYROID-FUNCTION AND GROWTH IN NEPHROPATHIC CYSTINOSIS [J].
KIMONIS, VE ;
TROENDLE, J ;
ROSE, SR ;
YANG, ML ;
MARKELLO, TC ;
GAHL, WA .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1995, 80 (11) :3257-3261
[5]   Are we ready to try to cure alkaptonuria? [J].
La Du, BN .
AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (04) :765-767
[6]  
LADU BN, 1995, METABOLIC MOL BASES, P1371
[7]   TREATMENT OF HEREDITARY TYROSINEMIA TYPE-I BY INHIBITION OF 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE [J].
LINDSTEDT, S ;
HOLME, E ;
LOCK, EA ;
HJALMARSON, O ;
STRANDVIK, B .
LANCET, 1992, 340 (8823) :813-817
[8]  
MITCHELL GA, 1997, METABOLIC MOL BASES
[9]   Treatment of two children with hereditary tyrosinaemia type I and long-standing renal disease with a 4-hydroxyphenylpyruvate dioxygenase inhibitor (NTBC) [J].
Pronicka, E ;
Rowinska, E ;
Bentkowski, Z ;
Zawadzki, J ;
Holme, E ;
Lindstedt, S .
JOURNAL OF INHERITED METABOLIC DISEASE, 1996, 19 (02) :234-238
[10]   SC-0051, A 2-BENZOYL-CYCLOHEXANE-1,3-DIONE BLEACHING HERBICIDE, IS A POTENT INHIBITOR OF THE ENZYME P-HYDROXYPHENYLPYRUVATE DIOXYGENASE [J].
SCHULZ, A ;
ORT, O ;
BEYER, P ;
KLEINIG, H .
FEBS LETTERS, 1993, 318 (02) :162-166