341 results on '"Caruso U"'
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2. The Italian screening program for primary congenital hypothyroidism: Actions to improve screening, diagnosis, follow-up, and surveillance
3. Glycine N -methyltransferase deficiency: A novel inborn error causing persistent isolated hypermethioninaemia
4. Synthesis, structure, and second-order nonlinear optical properties of copper(II) and palladium(II) acentric complexes with N-salicylidene-N'-aroylhydrazine tridentate ligands
5. 3-Methylglutaconic aciduria and hypermethioninaemia in a child with clinical and neuroradiological findings of Leigh disease
6. Minor facial anomalies in combined methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism
7. Estimation of genetic risk for Type 1 diabetes mellitus in newborns on dried blood spot
8. Color Tuning in the Luminescence of Two Oligomers Derived from N,N′-(Naphthalenediyl)bis-phenylimine Containing Oligomers
9. New side-chain polyurethanes with highly conjugated push–pull chromophores for second order NLO applications
10. Respiratory-chain and pyruvate metabolism defects: Italian collaborative survey on 72 patients
11. Multiple Factors Influencing the Incidence of Congenital Hypothyroidism Detected by Neonatal Screening
12. Dihydropyrimidine dehydrogenase deficiency and acute neurological presentation
13. Quantitative measurement of 4-hydroxy-3-methoxymandelic and homovanillic acids in plasma using capillary gas chromatography-mass spectrometry and stable isotope dilution: Preliminary data
14. l-2-Hydroxyglutaric acidaemia: Clinical and biochemical findings in 12 patients and preliminary report onl-2-hydroxyacid dehydrogenase
15. Role of haematological, pulmonary and renal complications in the long-term prognosis of patients with lysinuric protein intolerance
16. Optical second order nonlinearities in new chromophores obtained by selective mono-reduction of dinitro precursors
17. New NLO active cyclopalladated chromophores in main-chain polymers
18. Isolated sulphite oxidase deficiency: clinical and biochemical features in an Italian patient
19. Mevalonate kinase deficiency in a child with periodic fever and without hyperimmunoglobulinaemia D
20. NLO active Pd(II)-based organometallic side-chain polymers with C,N or N,O-chelating chromophoric ligands
21. Preface
22. Incidence of Epilepsy in 92 Cases of Classic Phenylketonuria.
23. Incidence of congenital hypothyroidism in the Autonomous Province of Bolzano: benefit of increased iodine intake
24. Capillary GC-MS — Stable isotope dilution analysis of methylmalonic acid in plasma: A candidate reference method for the diagnosis and the follow-up of methylmalonic acidaemias
25. Systematic investigation for biopterin defects in hyperphenylalaninemic patients
26. Unexpected favorable clinical results of therapy in late diagnosed DHPR deficiency
27. Biochemical diagnosis and outcome of 2 years treatment in a patient with combined methylmalonic aciduria and homocystinuria
28. Side chain organometallic polymers containing cyclopalladated potentially second order nonlinear optical active fragments as pendants
29. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project
30. Cholesteric liquid crystal polymers containing coordinated copper(II) in the main chain
31. The Italian screening program for primary congenital hypothyroidism: actions to improve screening, diagnosis, follow-up, and surveillance
32. Congenital Hypothyroidism due to Defects of Thyroid Development and Mild Increase of TSH at Screening: Data From the Italian National Registry of Infants With Congenital Hypothyroidism
33. A novel dicyano-phenylenevinylene red emitting organic dye
34. Epidemiology of congenital hypothyroidism: what can be deduced from the Italian registry of infants with congenital hypothyroidism
35. Multi-oriented and fibrous liquid crystalline networks based on linear mesogenic polymers
36. Plasma Amino Acids During the First 24 Hours of Life: Feasibility of Early Diagnosis in the Newborn at Risk of Amino Acid Disorders
37. Fumarate hydratase deficiency
38. Combined deficiency of xanthine oxidase and sulphite oxidase due to a deficiency of molybdenum cofactor
39. The UN Minorities Declaration's Vision of 'Integration'
40. Dihydropteridine Reductase Deficiency: Clinical, Biochemical and Therapeutic Aspects
41. Use of diode laser 980 nm as adjunctive therapy in the treatment of chronic periodontitis. A randomized controlled clinical trial
42. Association between thraetened pre-term labour and periodontal disease: does a relationship exist? A matched case-control study
43. Biochemical diagnosis and follow-up in a new Italian patient with hyperargininaemia
44. Acute neonatal isovaleric acidaemia presented without acidosis or ketonuria
45. Enhanced interpretation of newborn screening results without analyte cutoff values
46. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project
47. The Role of Medical Counseling in Secondary Prevention of Cancer in the Elderly
48. The Italian National Register of infants with congenital hypothyroidism: twenty years of surveillance and study of congenital hypothyroidism
49. A strategy in the treatment of creatine transporter defect:L-arginine supplementation in three italian CT1 patients
50. Neonatal screening for congenital errors of metabolism by means of Tandem Mass: Italian experience
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