Elevated plasma dihydroorotate in Miller syndrome: Biochemical, diagnostic and clinical implications, and treatment with uridine-Reference-Cited by-同舟云学术

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Elevated plasma dihydroorotate in Miller syndrome: Biochemical, diagnostic and clinical implications, and treatment with uridine

Published:2016-09 Issue:1-2 Volume:119 Page:83-90
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Duley John A.,Henman Michael G.,Carpenter Kevin H.,Bamshad Michael J.,Marshall George A.,Ooi Chee Y.,Wilcken Bridget,Pinner Jason R.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference15 articles.

1. Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH;Rainger;Hum. Mol. Genet.,2012

2. Exome sequencing identifies the cause of a Mendelian disorder;Ng;Nat. Genet.,2010

3. Protein instability and functional defects caused by mutations of dihydro-orotate dehydrogenase in Miller syndrome patients;Fang;Biosci. Rep.,2012

4. Collection and determination of nucleotide metabolites in neonatal and adult saliva by high performance liquid chromatography with tandem mass spectrometry;Al-Shehri;J. Chromatogr. B Anal. Technol. Biomed. Life Sci.,2013

5. A new case of dihydropyrimidine dehydrogenase deficiency;Brockstedt;J. Inherit. Metab. Dis.,1990

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1. Neurological presentations of inborn errors of purine and pyrimidine metabolism;European Journal of Paediatric Neurology;2024-01

2. Assessment of a novel variation in DHODH gene causing Miller syndrome: The first report in Chinese population;Molecular Genetics & Genomic Medicine;2023-04-30

3. Development of a biomarker to monitor target engagement after treatment with dihydroorotate dehydrogenase inhibitors;Biochemical Pharmacology;2022-10

4. Emvododstat, a Potent Dihydroorotate Dehydrogenase Inhibitor, Is Effective in Preclinical Models of Acute Myeloid Leukemia;Frontiers in Oncology;2022-02-09

5. Protein production, kinetic and biophysical characterization of three human dihydroorotate dehydrogenase mutants associated with Miller syndrome;Nucleosides, Nucleotides & Nucleic Acids;2022-01-30

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