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Partial hypoxanthine-guanine phosphoribosyltransferase deficiency in a 'Celebesian' family. A case of crippling gout associated with haematological disorders.

作者信息

van Herwaarden C L, van der Korst J K, Boerbooms A M, de Bruyn C H, Oei T L

出版信息

Neth J Med. 1976;19(6):272-8.

PMID:1004669
Abstract
摘要

相似文献

1
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency in a 'Celebesian' family. A case of crippling gout associated with haematological disorders.
Neth J Med. 1976;19(6):272-8.
2
[Detection of hypoxanthine-guanine phosphoribosyltransferase deficiency in patients with gout. First observation in Italy of a family nucleus with the defect].
Reumatismo. 1972 Oct-Dec;24(4):260-4.
3
Normal HPRT coding region in a male with gout due to HPRT deficiency.
Mol Genet Metab. 2005 May;85(1):78-80. doi: 10.1016/j.ymgme.2005.01.005. Epub 2005 Feb 16.
4
[Familial juvenile gout caused by partial HGPRT deficiency with neurologic manifestations; a variant of the Lesch-Nyhan syndrome?].
Bull Mem Acad R Med Belg. 1980;135(3):219-31.
5
Identification of a new single-nucleotide mutation on the hypoxanthine-guanine phosphoribosyltransferase gene from 983 cases with gout in Taiwan.台湾983例痛风患者次黄嘌呤-鸟嘌呤磷酸核糖转移酶基因新单核苷酸突变的鉴定。
J Rheumatol. 2007 Apr;34(4):794-7. Epub 2007 Feb 15.
6
Identification of a new single nucleotide substitution on the hypoxanthine-guanine phosphoribosyltransferase gene (HPRT(Tsou) from a Taiwanese aboriginal family with severe gout.
J Rheumatol. 1999 Aug;26(8):1802-7.
7
Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase with reduced affinity for PP-ribose-P in four related males with gout.四名痛风相关男性中次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶部分缺乏，对磷酸核糖焦磷酸（PP - ribose - P）的亲和力降低。
Hum Genet. 1984;67(1):18-22. doi: 10.1007/BF00270552.
8
Partial deficiency of hypoxanthine-phosphoribosyltransferase:evidence for a structural mutation in a patient with gout.次黄嘌呤 - 磷酸核糖基转移酶部分缺乏：痛风患者中结构突变的证据
Eur J Clin Invest. 1979 Feb;9(1):43-7. doi: 10.1111/j.1365-2362.1979.tb01665.x.
9
[Clinical spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency: study of 12 cases].[次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶缺乏症的临床谱：12例研究]
Med Clin (Barc). 1994 May 14;102(18):681-7.
10
Urinary xanthine stones in an allopurinol-treated gouty patient with partial deficiency of hypoxanthine-guanine phosphoribosyltransferase.
Isr J Med Sci. 1978 Feb;14(2):288-92.

引用本文的文献

1
Molecular and tissue-specific heterogeneity in HPRT deficiency.次黄嘌呤磷酸核糖转移酶缺乏症中的分子和组织特异性异质性。
Biochem Genet. 1978 Dec;16(11-12):1187-202. doi: 10.1007/BF00484539.