Clinical and genetic analysis of 7 Chinese patients with β-ureidopropionase deficiency-Reference-Cited by-同舟云学术

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

Published:2019-01 Issue:1 Volume:98 Page:e14021
ISSN:0025-7974
Container-title:Medicine
language:en
Short-container-title:

Author:

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

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

General Medicine

Reference25 articles.

1. De novo synthesis of pyrimidine nucleotides; emerging interfaces with signal transduction pathways;Huang;Cell Mol Life Sci,2003

2. Pyrimidines and CNS regulation;Connolly;Trends Pharmacol Sci,1996

3. New insights in dihydropyrimidine dehydrogenase deficiency: a pivotal role for beta-aminoisobutyric acid;Van Kuilenburg;Biochem J,2004

4. Detection of beta-ureidopropionase deficiency with HPLC-electrospray tandem mass spectrometry and confirmation of the defect at the enzyme level;Van Kuilenburg;J Inherit Metab Dis,2001

5. Comprehensive detection of disorders of purine and pyrimidine metabolism by HPLC with electrospray ionization tandem mass spectrometry;Hartmann;Clin Chem,2006

Cited by 7 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Review of Neurologic and Developmental Conditions Associated with Pediatric Dihydropyrimidine Dehydrogenase Deficiency;Advances in Molecular Pathology;2024-08

2. The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain;Molecular Genetics and Metabolism;2022-09

3. β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity;Molecular Genetics and Metabolism;2022-07

4. Disorders of Beta and Gamma Amino Acids;Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases;2022

5. Disorders of Purine and Pyrimidine Metabolism;Inborn Metabolic Diseases;2022

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