841 results on '"Blau, N"'
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2. Clinical and biochemical footprints of inherited metabolic disorders. VII. Ocular phenotypes
3. AN EXPANDING GENETIC SPECTRUM CAUSING HYPERPHENYLALANINEMIA AND CENTRAL MONOAMINE NEUROTRANSMITTER DEFICIENCY
4. AGEING BRAIN, MOVEMENT DISORDERS AND DEMENTIA: WHAT IS THE LINK WITH MONOGENIC DISEASES?
5. Tetrahydrobiopterin Deficiency in Portugal: Results of the Screening for Hyperphenylalaninemia
6. Tetrahydrobiopterin Deficiency and an International Database of Patients
7. Phenylketonuria
8. Abstracts. Eighteenth International Winter-Workshop on Chemical, Biochemical and Clinical Aspects of Pteridines
9. Influence of Total Parenteral Nutrition on Urinary Calcium Oxalate Saturation and the Development of Nephrocalcinosis in Preterm Infants
10. Nitrite Generation in Interleukin-4: Treated Human Macrophage Cultures Does Not Involve the Nitric Oxide Synthase Pathway
11. Novel mutation affecting the pterin-binding site of PTS gene and review of PTS mutations in Thai patients with 6-pyruvoyltetrahydropterin synthase deficiency
12. Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up
13. Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene
14. Pharmacokinetics of tetrahydrobiopterin following oral loadings with three single dosages in patients with phenylketonuria
15. Effect of BH4 supplementation on phenylalanine tolerance
16. Inactivity of nitric oxide synthase gene in the atherosclerotic human carotid artery
17. Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC-MS/MS analysis platform
18. Pharmacokinetics of orally administered tetrahydrobiopterin in patients with phenylalanine hydroxylase deficiency
19. Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency
20. Tetrahydrobiopterin Responsiveness in Phenylketonuria. Two New Cases and a Review of Molecular Genetic Findings
21. A splice mutation in the GTP cyclohydrolase I gene causes dopa-responsive dystonia by exon skipping
22. Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates
23. 4th International Conference on Pteridines and Related Biogenic Amines
24. Genotype–phenotype correlation in dihydropteridine reductase deficiency
25. Deprenyl in the treatment of patients with tetrahydrobiopterin deficiencies
26. Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: Effect of oral phenylalanine loading
27. Epidemiology, molecular genetics, and new treatment options for aromatic amino acid decarboxylase deficiency
28. Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency
29. Different Strategies In the Treatment of Dihydropteridine Reductase Deficiency
30. Mutations in the pterin-4α-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia
31. Deprenyl in 6-Pyruvoyl Tetrahydropterin Synthase Deficiency
32. Chronic treatment with tetrahydrobiopterin reverses endothelial dysfunction and oxidative stress in hypercholesterolaemia
33. International database of tetrahydrobiopterin deficiencies
34. Parenteral Nutrition in Pre-Term Infants:Influence on the Development of Nephrocalcinosis
35. Comparison of C-reactive protein and white blood cell count with differential in neonates at risk for septicaemia
36. Possible high frequency of tetrahydrobiopterin deficiency in South Brazil
37. Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test
38. Prenatal Diagnosis of Dihydropteridine Reductase Deficiency in a Twin Pregnancy
39. 6-Pyruvoyl Tetrahydropterin Synthase in Human Tissues and Cell Lines
40. Monitoring Treatment in Tetrahydrobiopterin Deficiency
41. Suspected pterin-4a-carbinolamine dehydratase deficiency: Hyperphenylalaninaemia due to inhibition of phenylalanine hydroxylase by tetrahydro-7-biopterin
42. Hyperphenylalaninaemia presumably due to carbinolamine dehydratase deficiency: Loading tests with pterin derivatives
43. Homocarnosinosis: A historical update and findings in the SPG11 gene
44. Monitoring treatment in tetrahydrobiopterin deficiency by serum prolactin
45. Hyperphenylalaninaemia due to tetrahydrobiopterin deficiency: A report of 16 cases
46. Screening and treatment of tetrahydrobiopterin deficiency
47. Unusual case of atypical PKU: peripheral or central form of PPH4S deficiency
48. Heterogeneity of tetrahydrobiopterin deficiency: combined phenylalaninetetrahydrobiopterin loading test
49. Systematic investigation for biopterin defects in hyperphenylalaninemic patients
50. The screening diagnosis of tetrahydrobiopterin deficient phenylketonuria
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