Publications

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

This paper evaluated self-reported health-quality of life in adults with a urea cycle disorders

Curtis Coughlin II

• Apr 1, 2026 • 1 min read

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Epilepsy disease classification: a community effort to enhance the Mondo Disease Ontology

This paper alighted epilepsy heiarchy in MONDO with the International Leaague Against Epilepsy (ILAE) classification system

The History and Nosology of the Glycine Disorders: A Framework for Clinicians

Characteristic clinical and biochemical features of each condition, as well as non-genetic phenocopies that cause hyperglycinaemia.

Drug Delivery Through Placenta and Then Breastmilk for Fetal Cystic Fibrosis: Collateral Benefit and Social Good Do Not Make an Acceptable Risk: Benefit Ratio

New treatment for pyridoxine-dependent epilepsy due to ALDH7A1 deficiency: first proof-of-principle of upstream enzyme inhibition in the mouse

Feasibility of newborn screening for pyridoxine-dependent epilepsy

This paper demonstarted newborn screening for PDE-ALDH7A1 using a widely avaialble screening approach

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

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

Defining critical educational components of informed consent for genetic testing: views of US-based genetic counselors and medical geneticists

Is it time to start to consider treating the liver in glutaric aciduria type 1?