28 results on '"Levy, Harvey"'
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2. The treatment of biochemical genetic diseases: From substrate reduction to nucleic acid therapies
3. 5-year retrospective analysis of patients with phenylketonuria (PKU) and hyperphenylalaninemia treated at two specialized clinics
4. Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study
5. The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency
6. Prevalence of comorbid conditions among adult patients diagnosed with phenylketonuria
7. Phenylalanine ammonia lyase (PAL): From discovery to enzyme substitution therapy for phenylketonuria
8. Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM)
9. Metabolomic changes demonstrate reduced bioavailability of tyrosine and altered metabolism of tryptophan via the kynurenine pathway with ingestion of medical foods in phenylketonuria
10. Adherence to tetrahydrobiopterin therapy in patients with phenylketonuria
11. Charles Scriver: Epitome of the physician scientist
12. PROBLEMS IN PRENATAL COUNSELING FOR PREGNANCIES AFFECTED WITH BENIGN HYPERPHENYLALANINEMIA
13. PEGTIBATINASE, AN INVESTIGATIONAL ENZYME REPLACEMENT THERAPY FOR THE TREATMENT OF CLASSICAL HOMOCYSTINURIA: INITIAL RESULTS FROM THE PHASE 1/2 COMPOSE STUDY
14. Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening
15. Phenylalanine blood levels and clinical outcomes in phenylketonuria: A systematic literature review and meta-analysis
16. Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles
17. The use of betaine in the treatment of elevated homocysteine
18. Subacute combined degeneration of the spinal cord in cblC disorder despite treatment with B12
19. Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH)
20. Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trap
21. The remarkable S. Harvey Mudd — A reminiscence
22. Hyperphenylalaninemia and the genomic revolution
23. Phenylketonuria Scientific Review Conference: State of the science and future research needs
24. Congenital heart disease in maternal PKU
25. A Germline Mutation in Two Families with Gaucher Disease
26. Richard Koch — An appreciation (1921–2011)
27. Recommendations for evaluation of responsiveness to tetrahydrobiopterin (BH 4) in phenylketonuria and its use in treatment
28. Recommendations for evaluation of responsiveness to tetrahydrobiopterin (BH4) in phenylketonuria and its use in treatment
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