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Curtis R Coughlin

8PUBLICATIONS

13CO-AUTHORS

Major global burdens of diseasePharmacogenomicsInfant and child healthToxicology (incl. clinical toxicology)Nanomedicine

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Publications (8)

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|Apr 09, 2026

Self-Reported Health-Related Quality of Life (HRQoL) in Adults With Urea Cycle Disorders.

Curtis R Coughlin, John Barber, Chaya N Murali

|Aug 20, 2025

Pyridoxine-dependent epilepsy: Current perspectives and questions for future research.

Curtis R Coughlin, Sidney M Gospe

|Feb 26, 2022

A case for newborn screening for pyridoxine-dependent epilepsy.

Curtis R Coughlin, Laura A Tseng, Clara D M van Karnebeek

|Nov 17, 2020

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

Curtis R Coughlin, Laura A Tseng, Jose E Abdenur

|Nov 26, 2019

Pyridoxine-dependent epilepsy is more than just epilepsy.

Curtis R Coughlin

|Jul 25, 2019

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

Susan A Berry, Curtis R Coughlin, Shawn McCandless

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Frequent Collaborators

1 joint publications

Michael A Swanson

1 joint publications

Marja-Leena Väisänen

1 joint publications

Elaine Spector

1 joint publications

Ana M Brás-Goldberg

1 joint publications

Jukka S Moilanen

1 joint publications

Irene Bravo-Alonso

1 joint publications

Susan A Berry

1 joint publications

Shawn McCandless

1 joint publications

Robert McCarter

1 joint publications

Mark Yudkoff

Frequent Collaborators

1 joint publications

Michael A Swanson

1 joint publications

Marja-Leena Väisänen

1 joint publications

Elaine Spector

1 joint publications

Ana M Brás-Goldberg

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