QDPR gene mutation and clinical follow-up in Chinese patients with dihydropteridine reductase deficiency-Reference-Cited by-同舟云学术

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QDPR gene mutation and clinical follow-up in Chinese patients with dihydropteridine reductase deficiency

Published:2014-08 Issue:3 Volume:10 Page:219-226
ISSN:1708-8569
Container-title:World Journal of Pediatrics
language:en
Short-container-title:World J Pediatr

Author:

Lu De-Yun,Ye Jun,Han Lian-Shu,Qiu Wen-Juan,Zhang Hui-Wen,Zhou Jian-De,Bao Pei-Zhong,Zhang Ya-Fen,Gu Xue-Fan

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Link

http://link.springer.com/content/pdf/10.1007/s12519-014-0496-7.pdf

Reference33 articles.

1. Werner ER, Blau N, Thöny B. Tetrahydrobiopterin: biochemistry and pathophysiology. Biochem J 2011;438:397–414.

2. Burke JR, Frey PA. The importance of binding energy in catalysis of hydride transfer by UDP-galactose 4-epimerase: A carbon-13 and nitrogen-15 NMR and kinetic study. Biochemistry 1993;32:13220–13230.

3. Swanson BA, Frey PA. Identification of lysine 153 as a functionally important residue in UDP-galactose 4-epimerase from Escherichia coli. Biochemistry 1993;32:13231–13236.

4. Kiefer PM, Varughese KI, Su Y, Xuong NH, Chang CF, Gupta P, et al. Altered Structural and Mechanistic Properties of Mutant Dihydropteridine Reductases. J Biol Chem 1996;271:3437–3444.

5. Lockyer J, Cook RG, Milstien S, Kaufman S, Woo SL, Ledley FD. Structure and expression of human dihydropteridine reductase. Proc Natl Acad Sci U S A 1987;84:3329–3333.

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2. Tremor in Primary Monogenic Dystonia;Current Neurology and Neuroscience Reports;2021-07-15

3. Sapropterin dihydrochloride therapy in dihydropteridine reductase deficiency: Insight from the first case with molecular diagnosis in Brazil;JIMD Reports;2021-05-05

4. Gene mutation and pedigree analysis of tetrahydrobiopterin deficiency in a Uygur family of China;Journal of Clinical Laboratory Analysis;2018-09-17

5. Molecular genetics of tetrahydrobiopterin deficiency in Chinese patients;Journal of Pediatric Endocrinology and Metabolism;2018-07-12

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