Publications

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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Access

Application of a framework to guide genetic testing communication across clinical indications

Miranda L. G. Hallquist
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Chromosome Breakpoints

Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation

Yulia Mostovoy
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Adolescent

Development and application of an ethical framework for pediatric metabolic and bariatric surgery evaluation

Jaime M. Moore
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Aldehyde Dehydrogenase

Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency

Curtis R. Coughlin
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Amino Acid Metabolism

Inconsistencies in the Nutrition Management of Glutaric Aciduria Type 1: An International Survey

Laurie Bernstein
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