169 results on '"Van Spronsen, Francjan"'
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2. Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies
3. Tyrosine Metabolism
4. Disorders of Phenylalanine and Tetrahydrobiopterin Metabolism
5. High-Dose ERT, Rituximab, and Early HSCT in an Infant with Wolman’s Disease
6. Phenylketonuria: modelling cerebral amino acid and neurotransmitter metabolism
7. Analysis of genomics implementation in newborn screening for inherited metabolic disorders: an IRDiRC initiative
8. A False-Negative Newborn Screen for Tyrosinemia Type 1—Need for Re-Evaluation of Newborn Screening with Succinylacetone
9. A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening
10. Newborn screening for primary carnitine deficiency: who will benefit? – a retrospective cohort study
11. Important Lessons on Long-Term Stability of Amino Acids in Stored Dried Blood Spots
12. Communication of an Abnormal Metabolic New-Born Screening Result in The Netherlands: The Parental Perspective
13. Dietary Liberalization in Tetrahydrobiopterin-Treated PKU Patients: Does It Improve Outcomes?
14. Tyrosinemia
15. Liver Cancer in Tyrosinemia Type 1
16. Neurological and Neuropsychological Problems in Tyrosinemia Type I Patients
17. Dietary Considerations in Tyrosinemia Type I
18. What Is the Best Blood Sampling Time for Metabolic Control of Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients?
19. Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway
20. Dietary treatment in Dutch children with phenylketonuria: An inventory of associated social restrictions and eating problems
21. Caring for Ukrainian refugee children with acute and chronic diseases
22. Phenylketonuria and Hyperphenylalaninemia
23. Reliable Diagnosis of Carnitine Palmitoyltransferase Type IA Deficiency by Analysis of Plasma Acylcarnitine Profiles
24. Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead
25. Gut-Microbiome Composition in Response to Phenylketonuria Depends on Dietary Phenylalanine in BTBR Pahenu2 Mice
26. Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey
27. Voluntary Exercise Prevents Oxidative Stress in the Brain of Phenylketonuria Mice
28. Normoglycemic Ketonemia as Biochemical Presentation in Ketotic Glycogen Storage Disease
29. Correlations of blood and brain biochemistry in phenylketonuria: Results from the Pah-enu2 PKU mouse
30. Metabolic control during the neonatal period in phenylketonuria: associations with childhood IQ
31. Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented?
32. Preventive use of nitisinone in alkaptonuria
33. Phenylketonuria
34. Disorders of Phenylalanine and Tetrahydrobiopterin Metabolism
35. Age dependency of plasma vitamin B12 status markers in Dutch children and adolescents
36. The Ketogenic Diet Is Well Tolerated and Can Be Effective in Patients with Argininosuccinate Lyase Deficiency and Refractory Epilepsy
37. Phenylalanine Effects on Brain Function in Adult Phenylketonuria
38. A Microbial Community Ecology Perspective on the Gut-Microbiome-Brain Axis
39. Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor
40. The Genetic Landscape and Epidemiology of Phenylketonuria
41. Aspartame and Phe-Containing Degradation Products in Soft Drinks across Europe
42. Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency
43. Dried blood spot versus venous blood sampling for phenylalanine and tyrosine
44. Does the 48-hour BH4 loading test miss responsive PKU patients?
45. Bone mineral density is within normal range in most adult phenylketonuria patients
46. Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients
47. The Effect of Various Doses of Phenylalanine Supplementation on Blood Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients
48. Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1
49. Untreated PKU Patients without Intellectual Disability: What Do They Teach Us?
50. Blood and Brain Biochemistry and Behaviour in NTBC and Dietary Treated Tyrosinemia Type 1 Mice
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