140 results on '"Vitoria, Isidro"'
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2. New variants expand the neurological phenotype of COQ7 deficiency.
3. Non-alcoholic fatty liver in hereditary fructose intolerance
4. Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program
5. Newly validated biomarkers of brain damage may shed light into the role of oxidative stress in the pathophysiology of neurocognitive impairment in dietary restricted phenylketonuria patients
6. Study of adult and pediatric patients with idiopathic splenomegaly and splenectomy: The PREDIGA study- PRoject for the Education and DIagnosis of Gaucher disease and Acid sphingomyelinase deficiency
7. Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing
8. Carnitine-Acylcarnitine Translocase Deficiency: Experience with Four Cases in Spain and Review of the Literature
9. Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain
10. Vitamin and mineral status in patients with hyperphenylalaninemia
11. 6R-tetrahydrobiopterin treated PKU patients below 4 years of age: Physical outcomes, nutrition and genotype
12. Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia
13. Fluoruro en aguas minerales naturales envasadas en España y prevención de la caries dental
14. Lactose and Galactose Content in Spanish Cheeses: Usefulness in the Dietary Treatment of Patients with Galactosaemia
15. Anthropometric characteristics and nutrition in a cohort of PAH-deficient patients
16. Carbohydrate status in patients with phenylketonuria
17. Molecular epidemiology, genotype–phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria
18. Tetrahydrobiopterin therapy vs phenylalanine-restricted diet: Impact on growth in PKU
19. Postauthorization safety study of betaine anhydrous
20. Postauthorization safety study of betaine anhydrous
21. Postauthorization safety study of betaine anhydrous
22. Genetic screening of lysosomal disorders: An account of five years' experience with NGS-based resequencing panels
23. Characterization of New Proteomic Biomarker Candidates in Mucopolysaccharidosis Type IVA
24. Carnitine-Acylcarnitine Translocase Deficiency: Experience with Four Cases in Spain and Review of the Literature
25. PREDIGA project: Preliminary results of the Spanish multicenter epidemiological and medical education project in acid sphingomyelinase deficiency disease (ASMD) and Gaucher disease (GD)
26. The role of attentional biases to appetitive stimuli in childhood overweight
27. Characterization of New Proteomic Biomarker Candidates in Mucopolysaccharidosis Type IVA
28. Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia
29. Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia
30. Prevención de la obesidad infantil: hábitos saludables
31. Dietary practices in methylmalonic acidaemia: a European survey
32. Genes and Variants Underlying Human Congenital Lactic Acidosis—From Genetics to Personalized Treatment
33. Quantification of urinary derivatives of Phenylbutyric and Benzoic acids by LC-MS/MS as treatment compliance biomarkers in Urea Cycle disorders
34. Development and validation of an MCDA framework for evaluation and decision-making of orphan drugs in Spain
35. Genes and variants underlying human congenital lactic acidosis—from genetics to personalized treatment
36. Additional file 1: of Carbohydrate status in patients with phenylketonuria
37. Additional file 2: of Carbohydrate status in patients with phenylketonuria
38. The nutritional limitations of plant-based beverages in infancy and childhood
39. Newly validated biomarkers of brain damage may shed light into the role of oxidative stress in the pathophysiology of neurocognitive impairment in dietary restricted phenylketonuria patients
40. Micronutrient in hyperphenylalaninemia
41. Contenido en nitratos de aguas de consumo público españolas
42. Additional file 1: of Lipid profile status and other related factors in patients with Hyperphenylalaninaemia
43. Magnesium in tap and bottled mineral water in Spain and its contribution to nutritional recommendations
44. The calcium concentration of public drinking waters and bottled mineral waters in Spain and its contribution to satisfying nutritional needs
45. Citrin deficiency in a Romanian child living in Spain highlights the worldwide distribution of this defect and illustrates the value of nutritional therapy
46. Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia
47. Lipid profile status and other related factors in patients with Hyperphenylalaninaemia
48. Fluoride content in tap water in Spain and prevention of dental caries
49. Dietary practices in methylmalonic acidaemia: a European survey
50. Improper Use of a Plant-Based Vitamin C–Deficient Beverage Causes Scurvy in an Infant
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