35 results on '"Blau, N"'
Search Results
2. The challenges of managing coexistent disorders with phenylketonuria: 30 cases
3. P205 – 1655 Autosomal dominant guanine triphosphate cyclohydrolase deficiency (GTPCH; Segawa's disease)
4. Positive effect of a simplified diet on blood phenylalanine control in different phenylketonuria variants, characterized by newborn BH4 loading test and PAH analysis
5. Pathogenesis of cognitive dysfunction in phenylketonuria: Review of hypotheses☆
6. P276 Folinic acid substitution in Alpers disease
7. Disorders of biogenic amines neurotransmission: Polish experience
8. MDO04 Paroxysmal dopa-responsive dystonia and sepiapterine reductase deficiecy
9. Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia
10. Phenylalanine loading as a diagnostic test for DRD: interpreting the utility of the test
11. Long-term follow-up of a patient with mild tetrahydrobiopterin-responsive phenylketonuria
12. New approaches to treat PKU: How far are we?
13. Two novel genetic lesions and a common BH4-responsive mutation of the PAH gene in Italian patients with hyperphenylalaninemia
14. A Novel Neurodevelopmental Syndrome Responsive to 5-Hydroxytryptophan and Carbidopa
15. Hyperphenylalaninemia and 7-Pterin Excretion Associated with Mutations in 4a-Hydroxy-tetrahydrobiopterin Dehydratase/DCoH: Analysis of Enzyme Activity in Intestinal Biopsies
16. Tetrahydrobiopterin Synthesis Precedes Nitric Oxide-Dependent Inhibition of Insulin Secretion in INS-1 Rat Pancreatic β-Cells
17. A vertical (pseudodominant) pattern of inheritance in the autosomal recessive disease primary hyperoxaluria type 1: Lack of relationship between genotype, enzymic phenotype, and disease severity
18. Effects of activating and deactivating cytokines on the functionally linked tetrahydrobiopterin No pathways in vascular smooth muscle cells
19. Tetrahydrobiopterin Loading Test in Xanthine Dehydrogenase and Molybdenum Cofactor Deficiencies
20. Characterization of the Human PCBD Gene Encoding the Bifunctional Protein Pterin-4α-carbinolamine Dehydratase/Dimerization Cofactor for the Transcription Factor Hnf-1α
21. A missense mutation in a patient with guanosine triphosphate cyclohydrolase I deficiency missed in the newborn screening program
22. Tetrahydrobiopterin as Another EDRF in Man
23. Tetrahydrobiopterin Is a Secretory Product of Murine Vascular Endothelial Cells
24. Antenatal diagnosis of tetrahydrobiopterin deficiency by quantification of pterins in amniotic fluid and enzyme activity in fetal and extrafetal tissue
25. Nitric Oxide Production Depends on Preceding Tetrahydrobiopterin Synthesis by Endothelial Cells: Selective Suppression of Induced Nitric Oxide Production by Sepiapterin Reductase Inhibitors
26. Modulation of Human Endothelial Cell Tetrahydrobiopterin Synthesis by Activating and Deactivating Cytokines: New Perspectives on Endothelium-Derived Relaxing Factor
27. Hyperphenylalaninemia and pterin metabolism in serum and erythrocytes
28. Phenylalanine hydroxylase-stimulating protein/pterin-4 alpha-carbinolamine dehydratase from rat and human liver. Purification, characterization, and complete amino acid sequence.
29. Human carbonyl and aldose reductases: New catalytic functions in tetrahydrobiopterin biosynthesis
30. 7-Substituted pterins. A new class of mammalian pteridines.
31. The application of 8-aminoguanosine triphosphate, a new inhibitor of GTP cyclohydrolase I, to the purification of the enzyme from human liver
32. TETRAHYDROBIOPTERIN AND "NON-RESPONSIVE" DIHYDROPTERIDINE REDUCTASE DEFICIENCY
33. Biosynthesis and significance of neopterin in the immune system
34. Primapterin, anapterin, and 6-oxo-primapterin, three new 7-substituted pterins identified in a patient with hyperphenylalaninemia
35. Effect of antiepileptic drugs and reactive oxygen species on folate receptor 1 (FOLR1)-dependent 5-methyltetrahydrofolate transport
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.