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Case Report

Patient with neonatal-onset chronic hepatitis presenting with mevalonate kinase deficiency with a novel MVK gene mutation

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Pages 641-645 | Received 24 Nov 2010, Accepted 22 Feb 2011, Published online: 02 Jan 2014

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Takayuki Tanaka, Kohei Yoshioka, Ryuta Nishikomori, Hidemasa Sakai, Junya Abe, Yuriko Yamashita, Ryugo Hiramoto, Akira Morimoto, Eiichi Ishii, Hirokazu Arakawa, Utako Kaneko, Yusei Ohshima, Nami Okamoto, Osamu Ohara, Ikue Hata, Yosuke Shigematsu, Tomoki Kawai, Takahiro Yasumi & Toshio Heike. (2019) National survey of Japanese patients with mevalonate kinase deficiency reveals distinctive genetic and clinical characteristics. Modern Rheumatology 29:1, pages 181-187.
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Articles from other publishers (6)

Yuriko YAMASHITA, Shinsuke MATSUMOTO, Ryugo HIRAMOTO, Isao KOMORI, Takayuki TANAKA, Ryuta NISHIKOMORI, Toshio HEIKE, Shuichiro UMETSU & Ayano INUI. (2017) A 6-year-old girl diagnosed with mevalonate kinase deficiency who had hydrops fetalis and neonatal-onset cholestasis. Japanese Journal of Clinical Immunology 40:2, pages 131-137.
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Shumin Zhang. (2016) Natural history of mevalonate kinase deficiency: a literature review. Pediatric Rheumatology 14:1.
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Grant S. Schulert, Kevin Bove, Richard McMasters, Kathleen Campbell, Nancy Leslie & Alexei A. Grom. (2015) 11-Month-Old Infant With Periodic Fevers, Recurrent Liver Dysfunction, and Perforin Gene Polymorphism. Arthritis Care & Research 67:8, pages 1173-1179.
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Kang Zeng, Qi-Guo Zhang, Li Li, Yan Duan & Yan-Hua Liang. (2014) Splicing mutation in MVK is a cause of porokeratosis of Mibelli. Archives of Dermatological Research 306:8, pages 749-755.
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Flora Tzifi, Philip Hawkins, Erato Atsali, Doxa Kotzia & Achilleas Attilakos. (2014) Acute Hepatitis in a Child Heterozygous for the I259V MEFV Gene Variant. Prague Medical Report 115:3-4, pages 128-133.
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