Publications

Defining critical educational components of informed consent for genetic testing: views of US-based genetic counselors and medical geneticists featured image
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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Is it time to start to consider treating the liver in glutaric aciduria type 1? featured image
Amino Acid Metabolism

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

Sander Houten
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Pyridoxine-dependent epilepsy: Current perspectives and questions for future research featured image
ALDH7A1

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

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Curtis Coughlin II
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Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy featured image
Aldehyde Dehydrogenase

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

Curtis R. Coughlin
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Pyridoxine-dependent epilepsy (PDE-ALDH7A1) in adulthood: A Dutch pilot study exploring clinical and patient-reported outcomes featured image
Adults

Pyridoxine-dependent epilepsy (PDE-ALDH7A1) in adulthood: A Dutch pilot study exploring clinical and patient-reported outcomes

L. A. Tseng
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Clinical Reasoning: Pediatric Seizures of Unknown Cause featured image
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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Adolescent

Cognitive and neurological outcome of patients in the Dutch pyridoxine-dependent epilepsy (PDE-ALDH7A1) cohort, a cross-sectional study

M. Strijker
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