Clinical utility gene card for: Trimethylaminuria

被引:15
作者
Shephard, Elizabeth A. [1 ]
Treacy, Eileen P. [2 ,3 ]
Phillips, Ian R. [4 ]
机构
[1] UCL, Inst Struct & Mol Biol, London WC1E 6BT, England
[2] Childrens Univ Hosp, Natl Ctr Inherited Metab Disorders, Dublin, Ireland
[3] Trinity Coll Dublin, Dublin, Ireland
[4] Queen Mary Univ London, Sch Biol & Chem Sci, London, England
关键词
FISH-ODOR SYNDROME; MONOOXYGENASE; 3; GENE; TRANSIENT TRIMETHYLAMINURIA; FUNCTIONAL-ANALYSIS; N-OXIDATION; FMO3; DEFICIENCY; METABOLISM; MUTATIONS; MENSTRUATION;
D O I
10.1038/ejhg.2011.214
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
[No abstract available]
引用
收藏
页码:365 / 5
页数:5
相关论文
共 38 条
[1]  
ALLERSTON CK, 2009, MOL GENET METAB, V198, P98
[2]   A GENETIC-POLYMORPHISM OF THE N-OXIDATION OF TRIMETHYLAMINE IN HUMANS [J].
ALWAIZ, M ;
AYESH, R ;
MITCHELL, SC ;
IDLE, JR ;
SMITH, RL .
CLINICAL PHARMACOLOGY & THERAPEUTICS, 1987, 42 (05) :588-594
[3]   TRIMETHYLAMINURIA - THE DETECTION OF CARRIERS USING A TRIMETHYLAMINE LOAD TEST [J].
ALWAIZ, M ;
AYESH, R ;
MITCHELL, SC ;
IDLE, JR ;
SMITH, RL .
JOURNAL OF INHERITED METABOLIC DISEASE, 1989, 12 (01) :80-85
[4]   Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency [J].
Binzak, BA ;
Wevers, RA ;
Moolenaar, SH ;
Lee, YM ;
Hwu, WL ;
Poggi-Bach, J ;
Engelki, UFH ;
Hoard, HM ;
Vockley, JG ;
Vockley, J .
AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (04) :839-847
[5]   Choline- and betaine-defined diets for use in clinical research and for the management of trimethylaminuria [J].
Busby, MG ;
Fischer, L ;
Da Costa, KA ;
Thompson, D ;
Mar, MH ;
Zeisel, SH .
JOURNAL OF THE AMERICAN DIETETIC ASSOCIATION, 2004, 104 (12) :1836-1845
[6]   Biochemical and clinical aspects of the human flavin-containing monooxygenase form 3 (FMO3) related to trimethylaminuria [J].
Cashman, JR ;
Camp, K ;
Fakharzadeh, SS ;
Fennessey, PV ;
Hines, RN ;
Mamer, OA ;
Mitchell, SC ;
Preti, G ;
Schlenk, D ;
Smith, RL ;
Tjoa, SS ;
Williams, DE ;
Yannicelli, S .
CURRENT DRUG METABOLISM, 2003, 4 (02) :151-170
[7]   Diagnosis and management of trimethylaminuria (FMO3 deficiency) in children [J].
Chalmers, RA ;
Bain, MD ;
Michelakakis, H ;
Zschocke, J ;
Iles, RA .
JOURNAL OF INHERITED METABOLIC DISEASE, 2006, 29 (01) :162-172
[8]   Missense mutation in flavin-containing mono-oxygenase 3 gene, FMO3, underlies fish-odour syndrome [J].
Dolphin, CT ;
Janmohamed, A ;
Smith, RL ;
Shephard, EA ;
Phillips, IR .
NATURE GENETICS, 1997, 17 (04) :491-494
[9]   Compound heterozygosity for missense mutations in the flavin-containing monooxygenase 3 (FMO3) gene in patients with fish-odour syndrome [J].
Dolphin, CT ;
Janmohamed, A ;
Smith, RL ;
Shephard, EA ;
Phillips, IR .
PHARMACOGENETICS, 2000, 10 (09) :799-807
[10]   A novel deletion in the flavin-containing monooxygenase gene (FMO3) in a Greek patient with trimethylaminuria [J].
Forrest, SM ;
Knight, M ;
Akerman, BR ;
Cashman, JR ;
Treacy, EP .
PHARMACOGENETICS, 2001, 11 (02) :169-174