Publications:

In Vitro Assessment of Fluoropyrimidine-Metabolizing Enzymes: Dihydropyrimidine Dehydrogenase, Dihydropyrimidinase, and β-Ureidopropionase.

Journal Of Clinical Medicine

Hishinuma, Eiji E; Gutiérrez Rico, Evelyn E; Hiratsuka, Masahiro M

Publication Date: 2020-07-22

Variant appearance in text: UPB1: 857T>C; I286T

PubMed Link: 32707991

Variant Present in the following documents:

• Main text
• jcm-09-02342.pdf

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Clinical and genetic analysis of 7 Chinese patients with β-ureidopropionase deficiency.

Medicine

Fang, Yulian Y; Cai, Chunquan C; Wang, Chao C; Sun, Bei B; Zhang, Xinjie X; Fan, Wenxuan W; Hu, Wenchao W; Meng, Yingtao Y; Lin, Shuxiang S; Zhang, Chunhua C; Zhang, Yuqin Y; Shu, Jianbo J

Publication Date: 2019-01

Variant appearance in text: UPB1: I286T

PubMed Link: 30608453

Variant Present in the following documents:

• medi-98-e14021.pdf

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A Korean Case of β-Ureidopropionase Deficiency Presenting with Intractable Seizure, Global Developmental Delay, and Microcephaly.

Jimd Reports

Lee, Jun Hwa JH; van Kuilenburg, André B P AB; Abeling, N G G M NG; Vasta, Valeria V; Hahn, Si Houn SH

Publication Date: 2015

Variant appearance in text: UPB1: I286T

PubMed Link: 25638458

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Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation [corrected].

Journal Of Inherited Metabolic Disease

Nakajima, Yoko Y; Meijer, Judith J; Dobritzsch, Doreen D; Ito, Tetsuya T; Meinsma, Rutger R; Abeling, Nico G G M NG; Roelofsen, Jeroen J; Zoetekouw, Lida L; Watanabe, Yoriko Y; Tashiro, Kyoko K; Lee, Tomoko T; Takeshima, Yasuhiro Y; Mitsubuchi, Hiroshi H; Yoneyama, Akira A; Ohta, Kazuhide K; Eto, Kaoru K; Saito, Kayoko K; Kuhara, Tomiko T; van Kuilenburg, André B P AB

Publication Date: 2014-09

Variant appearance in text: UPB1: I286T

PubMed Link: 24526388

Variant Present in the following documents:

• Main text
• 10545_2014_Article_9682.pdf

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