莱施-奈恩综合征研讨会。嘌呤代谢的各个方面。 - Suppr

Suppr

超能文献

Seminars on Lesch-Nyhan syndrome. Aspects of purine metabolism.

作者信息

Balis M E

出版信息

Fed Proc. 1968 Jul-Aug;27(4):1067-74.

PMID:4968794

Abstract

摘要

相似文献

Seminars on Lesch-Nyhan syndrome. Aspects of purine metabolism.

Fed Proc. 1968 Jul-Aug;27(4):1067-74.

A new assay method for hypoxanthine-guanine phosphoribosyltransferase.

J Lab Clin Med. 1970 Nov;76(5):733-8.

Urinary and cerebrospinal fluid oxypurine levels and allopurinol metabolism in the Lesch-Nyhan syndrome.

Fed Proc. 1968 Jul-Aug;27(4):1055-9.

Clinical and therapeutic aspects of the Lesch-Nyhan syndrome in Japanese children.

Neuropadiatrie. 1970 Aug;2(1):38-52. doi: 10.1055/s-0028-1091839.

A new disorder of purine metabolism with behavioral manifestations.

J Pediatr. 1969 Jan;74(1):20-7. doi: 10.1016/s0022-3476(69)80004-1.

Allopurinol and thiopurinol: effect in vivo on urinary oxypurine excretion and rate of synthesis of their ribonucleotides in different enzymatic deficiencies.

Adv Exp Med Biol. 1974;41:657-62. doi: 10.1007/978-1-4757-1433-3_36.

Hypoxanthine-guanine phosphoribosyltransferase deficiency in the Lesch-Nyhan syndrome and gout.

Fed Proc. 1968 Jul-Aug;27(4):1047-52.

Lesch-Nyhan syndrome.

Paediatr Univ Tokyo. 1970 Dec;18:25-31.

Possible functions of hypoxanthine-guanine phosphoribosyltransferase and their relation to the biochemical pathology of the Lesch-Nyhan syndrome.

Fed Proc. 1968 Jul-Aug;27(4):1075-7.

Inosinic acid dehydrogenase activity in the Lesch-Nyhan syndrome.

J Clin Invest. 1972 Jun;51(6):1398-404. doi: 10.1172/JCI106935.

引用本文的文献

Mechanism of excessive purine biosynthesis in hypoxanthine-guanine phosphoribosyltransferase deficiency.

J Clin Invest. 1970 May;49(5):968-78. doi: 10.1172/JCI106316.

Mosaicism of peripheral blood lymphocyte populations in females heterozygous for the Lesch-Nyhan mutation.

Biochem Genet. 1974 May;11(5):397-411. doi: 10.1007/BF00486413.

Metabolism of purines in cultured normal and HPRT-deficient human fibroblasts.

Biochem Genet. 1973 Feb;8(2):149-56. doi: 10.1007/BF00485542.

A new HGPRT-deficient phenotype?

J Med Genet. 1972 Dec;9(4):482-4. doi: 10.1136/jmg.9.4.482.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验