35 results on '"pku"'
Search Results
2. The COVID-19 pandemic impact on continuity of care provision on rare brain diseases and on ataxias, dystonia and PKU. A scoping review
3. Total choline intake and working memory performance in adults with phenylketonuria
4. Nutrition management of PKU with pegvaliase therapy: update of the web-based PKU nutrition management guideline recommendations
5. Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing
6. The spectrum of phenylalanine hydroxylase variants and genotype–phenotype correlation in phenylketonuria patients in Gansu, China
7. Allelic phenotype prediction of phenylketonuria based on the machine learning method
8. Life story of Iranian parents of a child with phenylketonuria: a qualitative study
9. Characterisation and differential diagnosis of neurological complications in adults with phenylketonuria: literature review and expert opinion
10. Enhanced genome editing to ameliorate a genetic metabolic liver disease through co-delivery of adeno-associated virus receptor
11. Retinal thinning in phenylketonuria and Gaucher disease type 3
12. Preventing maternal phenylketonuria (PKU) syndrome: important factors to achieve good metabolic control throughout pregnancy
13. The readability of online health resources for phenylketonuria
14. Metabolic and catecholamine response to sympathetic stimulation in early-treated adult male patients with phenylketonuria
15. Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria
16. PKU dietary handbook to accompany PKU guidelines
17. Impact of phenylalanine on cognitive, cerebral, and neurometabolic parameters in adult patients with phenylketonuria (the PICO study): a randomized, placebo-controlled, crossover, noninferiority trial
18. Nutritional management of phenylalanine hydroxylase (PAH) deficiency in pediatric patients in Canada: a survey of dietitians’ current practices
19. Long-term safety and efficacy of pegvaliase for the treatment of phenylketonuria in adults: combined phase 2 outcomes through PAL-003 extension study
20. Amorphic kinds: Cluster’s last stand?
21. A child with phenylketonuria and focal segmental glomerulosclerosis, the bright side of proteinuria
22. “I Feel Lucky” – Gratitude Among Young Adults with Phenylketonuria (PKU)
23. Mutation analysis of PAH gene in patients with PKU in western Iran and its association with polymorphisms: identification of four novel mutations
24. Extremely high phenylalanine levels in a newborn on parenteral nutrition: phenylketonuria in the neonatal intensive care unit
25. Effects of phenylalanine on the survival and neurite outgrowth of rat cortical neurons in primary cultures: possible involvement of brain-derived neurotrophic factor
26. A case of maternal PKU syndrome despite intensive patient counseling
27. Developmental Timing of Exposure to Elevated Levels of Phenylalanine Is Associated with ADHD Symptom Expression
28. Specific inhibition of N-methyl-D-aspartate receptor function in rat hippocampal neurons by L-phenylalanine at concentrations observed during phenylketonuria
29. Development of a skin-based metabolic sink for phenylalanine by overexpression of phenylalanine hydroxylase and GTP cyclohydrolase in primary human keratinocytes
30. Intelligence Patterns Among Children with High-Functioning Autism, Phenylketonuria, and Childhood Head Injury
31. Study design and description of patients
32. Significance of the in vivo deuterated phenylalanine load for long-term phenylalanine tolerance and psychointellectual outcome in patients with PKU
33. Increased neurotransmitter biosynthesis in phenylketonuria induced by phenylalanine restriction or by supplementation of unrestricted diet with large amounts of tyrosine
34. Pattern-reversal visual evoked potentials in phenylketonuric children
35. Decreased vigilance and neurotransmitter synthesis after discontinuation of dietary treatment for phenylketonuria in adolescents
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