Curtis R. Coughlin

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

Teri L. Hernandez
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2-Aminoadipic Acid

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

Youssef Khalil
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Diet

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

Marjorie Dixon
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Counselors

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

Miranda L. G. Hallquist
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Amino Acid Metabolism

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

Sander Houten
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Aldehyde Dehydrogenase

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

Curtis R. Coughlin
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Aldehyde Dehydrogenase

Clinical Reasoning: Pediatric Seizures of Unknown Cause

Laura A. Tseng
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Activities of Daily Living

Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy

Laura A. Tseng
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Aldehyde Dehydrogenase

A case for newborn screening for pyridoxine-dependent epilepsy

Curtis R. Coughlin
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Genetic Counseling

Defining the Critical Components of Informed Consent for Genetic Testing

Kelly E. Ormond
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