Publications

Glutaric Acidemia Type 1

This is an overview of Glutaric Acidemia type 1 (GA1). GeneReviews is a point-of-care resource for busy clinicians, provides clinically relevant and medically actionable …

New Treatments, Novel Conversations: A Need to Study the Science of Communication about Treatment Options for Inborn Errors of Metabolism

This paper foucses on rare disease and decision making

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

Read more

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