[X-linked adrenoleukodystrophy: a report of three cases. The importance of early diagnosis].
- M. L. Úbeda, A. D. A. Muñoz, M. F. Lozano, J. I. L. Aizpún, M. Jiménez
- Medicine, Biology
- 1 October 2017
A first case of X-linked adrenoleukodystrophy with fatal evolution is reported which identified two asymptomatic family members and established a preventive treatment.
Phenotype in patients with intellectual disability and pathological results in array CGH.
Acute cerebellitis in paediatric patients: Our experience
[11q distal trisomy due to a familial 11;18 translocation].
- I. Menéndez, H. Rivera, E. Morales, J. Juan, M. Jiménez
- MedicineBoletín Médico del Hospital Infantil de México
- 1 November 1990
It is concluded that the phenotype of the trisomy 11q is independent of the size of the duplication whenever the segment 11q23----qter is involved.
[Prematurity with cerebral palsy and ceroid lipofuscinosis].
[Epilepsy onset between one month and three months of life: our 11 years experience].
Prenatal encephalopathies of unknown origin. Our 19-years experience. To what extent must genetic and biochemical studies be carried out?
P305 – 2007 A male with mild intellectual disability and hyperckemia
Leucoencefalopatía difusa por infección congénita por citomegalovirus