Article-Journal

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?

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

Curtis Coughlin II

• Mar 1, 2023 • 1 min read

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Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy