339 results on '"Couce, María L."'
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2. Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease
3. A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-up
4. Optimising 3D printed medications for rare diseases: In-line mass uniformity testing in direct powder extrusion 3D printing
5. Small for gestational age: concept, diagnosis and neonatal characterization, follow-up and recommendations
6. Recién nacido pequeño para la edad gestacional: concepto, diagnóstico y caracterización neonatal, seguimiento y recomendaciones
7. Characterization of the plasma proteomic profile of Fabry disease: Potential sex- and clinical phenotype-specific biomarkers
8. Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders
9. Care levels in neonatal units in Spain: an updated vision for a new reality
10. Niveles asistenciales en las unidades neonatales en España: Una visión actualizada para una nueva realidad
11. Transcriptomic analysis of patients with clinical suspicion of maturity-onset diabetes of the young (MODY) with a negative genetic diagnosis
12. Long-term safety and outcomes in hereditary tyrosinaemia type 1 with nitisinone treatment: a 15-year non-interventional, multicentre study
13. BMP8 and activated brown adipose tissue in human newborns
14. Automated generation of decision-tree models for the economic assessment of interventions for rare diseases using the RaDiOS ontology
15. Morquio A Syndrome: Identification of Differential Patterns of Molecular Pathway Interactions in Bone Lesions
16. Brain function in classic galactosemia, a galactosemia network (GalNet) members review
17. Odimet®: A Pioneering Tele-Health Tool to Empower Dietary Treatment and the Acute Management of Inborn Errors of Metabolism—An Assessment of Its Effectiveness during the COVID Pandemic
18. An updated view on human neonatal thermogenesis
19. Treatment adherence in tyrosinemia type 1 patients
20. BMP8 and activated brown adipose tissue in human newborns
21. Towards the automated economic assessment of newborn screening for rare diseases
22. 3D Printing of Dietary Products for the Management of Inborn Errors of Intermediary Metabolism in Pediatric Populations
23. Recommendations for transfusion of blood products in neonatology
24. Recomendaciones para la transfusión de hemoderivados en neonatología
25. Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program
26. Early cardiac abnormalities in obese children and their relationship with adiposity
27. Asymmetric dimethylarginine as a potential biomarker for management and follow-up of phenylketonuria
28. Effects of Maternal Stress on Breast Milk Production and the Microbiota of Very Premature Infants
29. Odimet ® : A Pioneering Tele-Health Tool to Empower Dietary Treatment and the Acute Management of Inborn Errors of Metabolism—An Assessment of Its Effectiveness during the COVID Pandemic.
30. 3D Printing of Dietary Products for the Management of Inborn Errors of Intermediary Metabolism in Pediatric Populations.
31. Characterization of plasma proteomic profile in Fabry disease
32. Sedoanalgesia in neonatal units
33. Sedoanalgesia en las unidades neonatales
34. Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian Peninsula
35. Recommendations on the skills profile and standards of the neonatal transport system in Spain
36. Recomendaciones sobre el perfil de competencias y estándares del sistema de traslado neonatal en España
37. Home births: A growing phenomenon with potential risks
38. Parto domiciliario: un fenómeno creciente con potenciales riesgos
39. Acylcarnitine profile in neonatal hypoxic-ischemic encephalopathy: The value of butyrylcarnitine as a prognostic marker
40. Vitamin and mineral status in patients with hyperphenylalaninemia
41. 6R-tetrahydrobiopterin treated PKU patients below 4 years of age: Physical outcomes, nutrition and genotype
42. Utility of bone turnover markers in metabolic bone disease detection in patients with phenylketonuria
43. Utilidad de los marcadores de remodelado óseo en la detección de enfermedad mineral ósea en pacientes con fenilcetonuria
44. Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia
45. Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations
46. Proteomics in Inherited Metabolic Disorders
47. Editorial: NGS technologies of rare diseases diagnosis
48. Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism
49. Editorial: Risk and preventive factors in necrotizing enterocolitis and its complications in premature infants
50. Anthropometric characteristics and nutrition in a cohort of PAH-deficient patients
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