Adult

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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Adult

Developing a conceptual, reproducible, rubric-based approach to consent and result disclosure for genetic testing by clinicians with minimal genetics background

Kelly E. Ormond
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Absorptiometry

Low bone mineral density is a common finding in patients with homocystinuria

David R. Weber
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