Simultaneous assay of urine sepiapterin and creatinine in patients with sepiapterin reductase deficiency-Reference-Cited by-同舟云学术

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Simultaneous assay of urine sepiapterin and creatinine in patients with sepiapterin reductase deficiency

Published:2022-09 Issue: Volume:534 Page:167-172
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Hyodo Yuki,Akiyama Tomoyuki,Fukuyama Tetsuhiro,Mimaki Masakazu,Watanabe Keiko,Kumagai Tadayuki,Kobayashi Katsuhiro

Funder

Japan Society for the Promotion of Science

Publisher

Elsevier BV

Subject

Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine

Reference13 articles.

1. Mutations in the sepiapterin reductase gene cause a novel deficiency without hyperphenylalaninemia;Bonafe;Arch. Biochem. Biophys.,2001

2. Sepiapterin reductase deficiency: A treatable mimic of cerebral palsy;Friedman;Ann. Neurol.,2012

3. Tetrahydrobiopterin: Biochemistry and pathophysiology;Werner;Biochem. J.,2011

4. What is new for monoamine neurotransmitter disorders?;Marecos;J. Inherit. Metab. Dis.,2014

5. Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency;Friedman;Neurology,2006

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