28 results on '"Ibáñez-Micó, Salvador"'
Search Results
2. Cross-cultural validation and psychometric properties of the Spanish version of the quality of life in Childhood epilepsy Questionnaire (QOLCE-55)
3. Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
4. Impact of COVID19 pandemic on patients with rare diseases in Spain, with a special focus on inherited metabolic diseases
5. Spanish translation, cross-cultural adaptation, and initial assessment of psychometric properties of the Life in Childhood Epilepsy Questionnaire (QOLCE-16)
6. Antibodies Against ZSCAN1 in Pediatric and Adult Patients With Non-Paraneoplastic ROHHAD Syndrome.
7. L-serine treatment in patients with GRIN-related encephalopathy: A phase 2A, non-randomized study
8. Sotos Syndrome and Nephrocalcinosis, a Rare But Possible Association due to Impact on Contiguous Genes
9. Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
10. Level of training in autistic spectrum disorders among hospital paediatricians
11. Nivel formativo sobre trastornos del espectro autista (TEA) entre los pediatras de atención hospitalaria
12. Association of metreleptin treatment and dietary intervention with neurological outcomes in Celia’s encephalopathy
13. The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other thanSLC2A1
14. Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum
15. Dissecting the transcriptional program of phosphomannomutase 2-deficient cells: Lymphoblastoide B cell lines as a valuable model for congenital disorders of glycosylation studies
16. Efficacy and Tolerability of Lacosamide in the Concomitant Treatment of 130 Patients Under 16 Years of Age with Refractory Epilepsy: A Prospective, Open-Label, Observational, Multicenter Study in Spain
17. Dissecting the transcriptional program of phosphomannomutase 2-deficient cells: Lymphoblastoide B cell lines as a valuable model for congenital disorders of glycosylation studies.
18. Ejercicio físico en niños con epilepsia resistente a fármacos : programa monitorizado con las nuevas tecnologías
19. Síndrome de depleción de ADN mitocondrial tipo 13: un caso con un inicio poco común
20. Association of metreleptin treatment and dietary intervention with neurological outcomes in Celia's encephalopathy
21. Transición de la epilepsia del niño al adulto. Dificultades en un objetivo no demorable
22. Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients
23. Síndrome de la varicela congénita y herpes zoster neonatal
24. Hallazgos radiológicos en la acidemia metilmalónica
25. Efficacy and Tolerability of Lacosamide in the Concomitant Treatment of 130 Patients Under 16 Years of Age with Refractory Epilepsy
26. Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
27. Antibodies Against ZSCAN1 in Pediatric and Adult Patients With Non-Paraneoplastic ROHHAD Syndrome.
28. [Congenital varicella syndrome and neonatal herpes zoster].
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