Associated Papers
High Diagnostic Yield and Clinical Utility of Next-Generation Sequencing in Children with Epilepsy and Neurodevelopmental Delays: A Retrospective Study.
Charouf D et al.
International Journal of Molecular Sciences, 2024
Challenges of genetic diagnosis of inborn errors of metabolism in a major tertiary care center in Lebanon.
Salman DO et al.
Frontiers in Genetics, 2022
QDPR gene mutation and clinical follow-up in Chinese patients with dihydropteridine reductase deficiency.
Lu DY et al.
World Journal of Pediatrics : Wjp, 2014
[Follow up and gene mutation analysis in cases suspected as 3-methylcrotonyl-coenzyme A carboxylase deficiency by neonatal screening].
Ye J et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2014
[Diagnosis, treatment and gene mutation analysis of the first case with dihydropteridine reductase deficiency in the mainland of China].
Ye J et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2008
Dihydropteridine reductase deficiency in man: from biology to treatment.
Ponzone A et al.
Medicinal Research Reviews, 2004
Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE).
Romstad A et al.
Human Genetics, 2000
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