Genetic disorders and urolithiasis

被引:29
作者
Danpure, CJ
机构
[1] UCL, MRC, Mol Cell Biol Lab, London WC1E 6BT, England
[2] UCL, Dept Biol, London WC1E 6BT, England
基金
英国医学研究理事会;
关键词
D O I
10.1016/S0094-0143(05)70258-5
中图分类号
R5 [内科学]; R69 [泌尿科学(泌尿生殖系疾病)];
学科分类号
1002 ; 100201 ;
摘要
A recent analysis of the McKusick's On-Line Mendelian Inheritance in Man (OMIM) database revealed over 30 genetic or putatively genetic conditions in which urolithiasis contributes to the disease pathology at least to some extent. There is wide clinical, biochemical, and genetic heterogeneity in many of these conditions.
引用
收藏
页码:287 / +
页数:14
相关论文
共 106 条
[11]   The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II [J].
Cramer, SD ;
Ferree, PM ;
Lin, K ;
Milliner, DS ;
Holmes, RP .
HUMAN MOLECULAR GENETICS, 1999, 8 (11) :2063-2069
[12]  
DANPURE CJ, 1987, LANCET, V1, P289
[13]  
Danpure CJ, 1998, J NEPHROL, V11, P8
[14]   PRIMARY HYPEROXALURIA TYPE-1 - GENOTYPIC AND PHENOTYPIC HETEROGENEITY [J].
DANPURE, CJ ;
JENNINGS, PR ;
FRYER, P ;
PURDUE, PE ;
ALLSOP, J .
JOURNAL OF INHERITED METABOLIC DISEASE, 1994, 17 (04) :487-499
[15]   MOLECULAR AND CLINICAL HETEROGENEITY IN PRIMARY HYPEROXALURIA TYPE-1 [J].
DANPURE, CJ .
AMERICAN JOURNAL OF KIDNEY DISEASES, 1991, 17 (04) :366-369
[16]  
Danpure CJ, 1996, PRENATAL DIAG, V16, P587
[17]   FURTHER-STUDIES ON THE ACTIVITY AND SUBCELLULAR-DISTRIBUTION OF ALANINE - GLYOXYLATE AMINOTRANSFERASE IN THE LIVERS OF PATIENTS WITH PRIMARY HYPEROXALURIA TYPE-1 [J].
DANPURE, CJ ;
JENNINGS, PR .
CLINICAL SCIENCE, 1988, 75 (03) :315-322
[18]   PEROXISOMAL ALANINE - GLYOXYLATE AMINOTRANSFERASE DEFICIENCY IN PRIMARY HYPEROXALURIA TYPE-I [J].
DANPURE, CJ ;
JENNINGS, PR .
FEBS LETTERS, 1986, 201 (01) :20-24
[20]   AN ENZYME TRAFFICKING DEFECT IN 2 PATIENTS WITH PRIMARY HYPEROXALURIA TYPE-1 - PEROXISOMAL ALANINE GLYOXYLATE AMINOTRANSFERASE REROUTED TO MITOCHONDRIA [J].
DANPURE, CJ ;
COOPER, PJ ;
WISE, PJ ;
JENNINGS, PR .
JOURNAL OF CELL BIOLOGY, 1989, 108 (04) :1345-1352