Publication: Neuropsychiatric manifestations in Late-Onset urea cycle disorder patients
Neuropsychiatric manifestations in Late-Onset urea cycle disorder patients
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Serrano, M., Pérez-Dueñas, B., Gómez-López, L., Murgui, E., Fons, C., García-Cazorla, A., Artuch, R., Jara, F., Arranz, J. A., Häberle, J., Briones, P., Campistol, J., Pineda, M., & Vilaseca, M. A. (2010). Neuropsychiatric manifestations in Late-Onset urea cycle disorder patients. Journal of Child Neurology, 25(3), 352–358. https://doi.org/10.1177/0883073809340696
Abstract
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Abstract
Inherited urea cycle disorders represent one of the most common groups of inborn errors of metabolism. Late-onset urea cycle disorders caused by partial enzyme deficiencies may present with unexpected clinical phenotypes. We report 9 patients followed up in our hospital presenting late-onset urea cycle disorders who initially manifested neuropsychiatric/neurodevelopmental symptoms (the most prevalent neuropsychiatric/neurodevelopmental diagnoses were mental retardation, attention-deficit hyperactivity disorder [ADHD], language disorde
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- Serrano, M
- Pérez-Dueñas, B
- Gómez-López, L
- Murgui, E
- Fons, C
- García-Cazorla, A
- Artuch, R
- Jara, F
- Arranz, J A
- Häberle, J
- Briones, P
- Campistol, J
- Pineda, M
- Vilaseca, M A
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Serrano, M., Pérez-Dueñas, B., Gómez-López, L., Murgui, E., Fons, C., García-Cazorla, A., Artuch, R., Jara, F., Arranz, J. A., Häberle, J., Briones, P., Campistol, J., Pineda, M., & Vilaseca, M. A. (2010). Neuropsychiatric manifestations in Late-Onset urea cycle disorder patients. Journal of Child Neurology, 25(3), 352–358. https://doi.org/10.1177/0883073809340696