Curtis Coughlin II

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Associate Professor

University of Colorado Anschutz Medical Campus

United States

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Dr. Curtis Coughlin II is an Associate Professor at the University of Colorado Anschutz Medical Campus in the United States. His research focuses on various aspects of genetic disorders and their management, particularly related to metabolism and neuropsychology, as evidenced by his recent publications on newborn screening and dialysis outcomes. His work also explores biomarkers for certain deficiencies and the epidemiology of genetic conditions in specific populations.

Recent Grants

Grant: Close

Newborn screening and treatment monitoring for patients with pyridoxine-dependent epilepsy

Open Date: 2022-06-08

Close Date: 2024-05-31

Grant: Close

Dried blood spot screening for pyridoxine dependent epilepsy

Open Date: 2016-01-01

Close Date: 2017-12-01

Grant: Close

Rare Diseases Clinical Research Consortia (RDCRC) for the RDCR network

Open Date: 2014-08-01

Close Date: 2019-07-01

Grant: Close

N-carbamylglutamate in the treatment of hyperammonemia

Open Date: 2008-08-01

Close Date: 2017-02-01

Articles (15)

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2025

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2022

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2021

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2020

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2020

Collaborators (6)

Frits Wijburg

Prof.dr.

NETHERLANDS

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Sidney Gospe Jr

Professor Emeritus

University of Washington

UNITED STATES

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Peter Clayton

University College London

UNITED KINGDOM

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Shawn McCandless

Professor

University of Denver

UNITED STATES

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Randi Johnson

Assistant Professor

University of Colorado Anschutz Medical Campus

UNITED STATES

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Philippa Mills

Associate Professor

University College London

UNITED KINGDOM

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Curtis Coughlin II

Research Interests

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About

Recent Grants

Articles (15)

Characterizing substructure via mixture modeling in large-scale genetic summary statistics

Prevalence of Pathogenic Transthyretin Gene Variants in the Rocky Mountain Region

Assessment of urinary 6‐oxo‐pipecolic acid as a biomarker for ALDH7A1 deficiency

Feasibility of newborn screening for pyridoxine-dependent epilepsy.

Severity-adjusted evaluation of initial dialysis on short-term health outcomes in urea cycle disorders.

Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database.

Dietary management for pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency, a follow-on from the international consortium guidelines.

Pyridoxine‐dependent epilepsy: Current perspectives and questions for future research

Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders.

Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders.

Relationship between longitudinal changes in neuropsychological outcome and disease biomarkers in urea cycle disorders.

A case for newborn screening for pyridoxine-dependent epilepsy

Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency

Pyridoxine‐dependent epilepsy is more than just epilepsy

Developing interactions with industry in rare diseases: lessons learned and continuing challenges

Collaborators (6)

Frits Wijburg

Sidney Gospe Jr

Peter Clayton

Shawn McCandless

Randi Johnson

Philippa Mills

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