PMC Articles for MedGen (Select 226944) - PMC

Select item 88993941.

Case Report: A Case of β-Ureidopropionase Deficiency Complicated With MELAS Syndrome Caused by UPB1 Variant and Mitochondrial Gene Variant

Jianbo Shu, Xiufang Zhi, Jing Chen, Meifang Lei, Jie Zheng, Wenchao Sheng, Chunhua Zhang, Dong Li, Chunquan Cai

Front Pediatr. 2022; 10: 838341. Published online 2022 Feb 21. doi: 10.3389/fped.2022.838341

PMCID:: PMC8899394

Abstract Article PDF–689K

Select item 63441452.

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

Yulian Fang, Chunquan Cai, Chao Wang, Bei Sun, Xinjie Zhang, Wenxuan Fan, Wenchao Hu, Yingtao Meng, Shuxiang Lin, Chunhua Zhang, Yuqin Zhang, Jianbo Shu

Medicine (Baltimore) 2019 Jan; 98(1): e14021. Published online 2019 Jan 4. doi: 10.1097/MD.0000000000014021

PMCID:: PMC6344145

Abstract Article PDF–617K

Select item 45012303.

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

Jun Hwa Lee, André B. P. van Kuilenburg, N. G. G. M. Abeling, Valeria Vasta, Si Houn Hahn

JIMD Rep. 2015; 19: 117–121. Published online 2015 Feb 1. doi: 10.1007/8904_2014_379

PMCID:: PMC4501230

Abstract Article PDF–245K

Select item 41581814.

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

Yoko Nakajima, Judith Meijer, Doreen Dobritzsch, Tetsuya Ito, Rutger Meinsma, Nico G. G. M. Abeling, Jeroen Roelofsen, Lida Zoetekouw, Yoriko Watanabe, Kyoko Tashiro, Tomoko Lee, Yasuhiro Takeshima, Hiroshi Mitsubuchi, Akira Yoneyama, Kazuhide Ohta, Kaoru Eto, Kayoko Saito, Tomiko Kuhara, André B. P. van Kuilenburg

J Inherit Metab Dis. 2014; 37(5): 801–812. Published online 2014 Feb 14. doi: 10.1007/s10545-014-9682-y

Correction in:: J Inherit Metab Dis. 2014; 37: 1023.

PMCID:: PMC4158181

Abstract Article PDF–2.8M

Select item 54431735.

Novel two-step derivation method for the synchronous analysis of inherited metabolic disorders using urine

Xiao-Qi Sheng, Yi-Chao Wang

Exp Ther Med. 2017 May; 13(5): 1961–1968. Published online 2017 Mar 2. doi: 10.3892/etm.2017.4167

PMCID:: PMC5443173

Abstract Article PDF–1.0M

Select item 22305706.

Physiological Roles of the β-Substituted Alanine Synthase Gene Family in Arabidopsis

Mutsumi Watanabe, Miyako Kusano, Akira Oikawa, Atsushi Fukushima, Masaaki Noji, Kazuki Saito

Plant Physiol. 2008 Jan; 146(1): 310–320. doi: 10.1104/pp.107.106831

PMCID:: PMC2230570

Abstract Article PDF–700K

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