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Last Updated: 01/07/2026
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Found 71 publications
Dihydropteridine Reductase Deficiency - A Rare and Potentially Treatable Cause Mimicking Cerebral Palsy.
Journal: Endocrine, metabolic & immune disorders drug targets
Published: October 04, 2023
Sapropterin dihydrochloride therapy in dihydropteridine reductase deficiency: Insight from the first case with molecular diagnosis in Brazil.
Journal: JIMD reports
Published: December 03, 2020
Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency.
Journal: Molecular genetics & genomic medicine
Published: June 07, 2019
Dihydropteridine Reductase Deficiency: A Treatable Neurotransmitter Movement Disorder Masquerading as Refractory Epilepsy Due to Novel Mutation.
Journal: Indian journal of pediatrics
Published: November 15, 2017
Parkinsonism in Association with Dihydropteridine Reductase Deficiency.
Journal: Case reports in neurology
Published: October 13, 2016
Transdermal rotigotine in dihydropteridine reductase deficiency.
Journal: Journal of the neurological sciences
Published: April 08, 2016
Clinical characteristics of epileptic seizures in a case of dihydropteridine reductase deficiency.
Journal: Epilepsy & behavior case reports
Published: January 15, 2014
QDPR gene mutation and clinical follow-up in Chinese patients with dihydropteridine reductase deficiency.
Journal: World journal of pediatrics : WJP
Published: October 12, 2013
Dihydropteridine reductase deficiency and treatment with tetrahydrobiopterin: a case report.
Journal: JIMD reports
Published: July 30, 2012
Dopamine agonists in dihydropteridine reductase deficiency.
Journal: Molecular genetics and metabolism
Published: December 06, 2011
Last Updated: 01/07/2026