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Nucleosides, Nucleotides & Nucleic Acids Volume 30, 2011 - Issue 12
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Original Articles

Hypoxanthine Guanine Phosphoribosyltransferase (HPRT) Mutations in the Asian Population

Y. Yamada Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Aichi, Japan
,
N. Wakamatsu Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Aichi, Japan
,
A. Taniguchi Institute of Rheumatology, Tokyo Women's Medical University, Tokyo, Japan
,
K. Kaneko Laboratory of Analytical Chemistry, School of Pharmaceutical Science, Teikyo University, Kanagawa, Japan
&
S. Fujimori Department of Internal Medicine, School of Medicine, Teikyo University, Tokyo, Japan
Pages 1248-1255 | Received 05 May 2011, Accepted 04 Jul 2011, Published online: 01 Dec 2011

Citations (10)

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N. Liu, Z.-H. Zhuo, H.-L. Wang, X.-D. Kong, H.-R. Shi, Q.-H. Wu & M. Jiang. (2015) Prenatal diagnosis based on HPRT1 gene mutation in a Lesch–Nyhan family. Journal of Obstetrics and Gynaecology 35:5, pages 490-493.
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Yasukazu Yamada, Noriko Nomura, Kenichiro Yamada, Reiko Kimura, Daisuke Fukushi, Nobuaki Wakamatsu, Yasufumi Matsuda, Takahiro Yamauchi, Takanori Ueda, Hiroshi Hasegawa, Makiko Nakamura, Kimiyoshi Ichida, Kiyoko Kaneko & Shin Fujimori. (2014) Hypoxanthine Guanine Phosphoribosyltransferase (HPRT) Deficiencies: HPRT1 Mutations in New Japanese Families and PRPP Concentration. Nucleosides, Nucleotides & Nucleic Acids 33:4-6, pages 218-222.
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Articles from other publishers (8)

Lu Li, Xiaohui Qiao, Fei Liu, Jingjing Wang, Huijun Shen, Haidong Fu & Jian-Hua Mao. (2022) Description of the Molecular and Phenotypic Spectrum of Lesch-Nyhan Disease in Eight Chinese Patients. Frontiers in Genetics 13.
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Laura E. Laróvere, Lynette D. Fairbanks, H. A. Jinnah, Norberto B. Guelbert, Emilia Escuredo, Adriana Becerra & Raquel Dodelson de Kremer. (2021) Lesch-Nyhan Disease and Its Variants: Phenotypic and Mutation Spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Argentine Patients. Journal of Inborn Errors of Metabolism and Screening 9.
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Yun Zhang, Yue Yin, Wei Liu & Xue-Jun Zeng. (2018) Genetic Background of a Juvenile Onset Gout Patient. Chinese Medical Journal 131:16, pages 2015-2016.
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Sungwook Choi, Jaechun Lee, Young-Ho Roh & Jinseok Kim. (2015) Surgical Treatment of Knee and Ankle Joint Contractures Resulting From Chronic Tophaceous Gout. JCR: Journal of Clinical Rheumatology 21:5, pages 281-282.
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Masafumi Kurajoh, Hidenori Koyama, Miki Hatayama, Hirokazu Okazaki, Takuhito Shoji, Yuji Moriwaki, Tetsuya Yamamoto, Tomitaka Nakayama & Mitsuyoshi Namba. (2015) Partial HPRT Deficiency with a Novel Mutation of the <i>HPRT</i> Gene in Combination with Four Previously Reported Variants Associated with Hyperuricemia. Internal Medicine 54:12, pages 1523-1526.
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Hiroshi Hasegawa, Yoshihiko Shinohara, Sayako Nozaki, Makiko Nakamura, Koei Oh, Osamu Namiki, Kiyotaka Suzuki, Akihiko Nakahara, Mari Miyazawa, Ken Ishikawa, Takahiro Himeno, Sayaka Yoshida, Takanori Ueda, Yasukazu Yamada & Kimiyoshi Ichida. (2015) Hydrophilic-interaction liquid chromatography–tandem mass spectrometric determination of erythrocyte 5-phosphoribosyl 1-pyrophosphate in patients with hypoxanthine–guanine phosphoribosyltransferase deficiency. Journal of Chromatography B 976-977, pages 55-60.
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Rong Fu, Irene Ceballos-Picot, Rosa J. Torres, Laura E. Larovere, Yasukazu Yamada, Khue V. Nguyen, Madhuri Hegde, Jasper E. Visser, David J. Schretlen, William L. Nyhan, Juan G. Puig, Patrick J. O’Neill & H. A. Jinnah. (2014) Genotype–phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder. Brain 137:5, pages 1282-1303.
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YooMi YeoEun Young ChoiHyae Jin YoonSodam JungDam KimSeunghun LeeKyung Bin JooJae-Bum Jun. (2014) A Case of Lesch-Nyhan Syndrome Manifesting Only Chronic Gouty Arthritis without Neurologic Symptom. Journal of Rheumatic Diseases 21:4, pages 192.
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