Search

Your search keyword '"Ibáñez-Micó, Salvador"' showing total 28 results

Search Constraints

Start Over You searched for: Author "Ibáñez-Micó, Salvador" Remove constraint Author: "Ibáñez-Micó, Salvador"
28 results on '"Ibáñez-Micó, Salvador"'

Search Results

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

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

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

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

20. Association of metreleptin treatment and dietary intervention with neurological outcomes in Celia's encephalopathy

22. Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients

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].

Catalog

Books, media, physical & digital resources