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Search Results to Curtis Raymond Coughlin II

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Coughlin II, Curtis

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Curtis Coughlin II is an Associate Professor in the Department of Pediatrics and the Center for Bioethics and Humanities. His research focuses on inborn errors of metabolism that result in neurologic dysfunction such as pyridoxine-dependent epilepsy (PDE-ALDH7A1) and glutaric aciduria type I (GA I). His laboratory utilizes model organisms to characterize the role of metabolites in disease pathology. Dr. Coughlin is a clinical ethicist at the Children’s Hospital Colorado. He is an ELSI genomics researcher that focuses on equitable access to genetic information and supporting individual decision-making.

One or more keywords matched the following items that are connected to Coughlin II, Curtis

Item Type	Name
Academic Article	Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials.
Concept	Epilepsy
Academic Article	Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations.
Academic Article	Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome.
Academic Article	Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.
Academic Article	Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia.
Academic Article	Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum.
Academic Article	The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.
Academic Article	Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screening.
Academic Article	Pyridoxine-dependent epilepsy is more than just epilepsy.
Academic Article	Cognitive and neurological outcome of patients in the Dutch pyridoxine-dependent epilepsy (PDE-ALDH7A1) cohort, a cross-sectional study.
Academic Article	Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to a-aminoadipic semialdehyde dehydrogenase deficiency.
Academic Article	A case for newborn screening for pyridoxine-dependent epilepsy.
Academic Article	Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy.
Academic Article	Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy.
Grant	Newborn screening and treatment monitoring for patients with pyridoxine-dependent epilepsy

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Epilepsy