158 results on '"Tangeraas, Trine"'
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2. Real-World Experience of Carglumic Acid for Methylmalonic and Propionic Acidurias: An Interim Analysis of the Multicentre Observational PROTECT Study
3. Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
4. Epidemiology and natural history of POLG disease in Norway: a nationwide cohort study
5. Late-Onset Molybdenum Cofactor Deficiency Type A: A Treatable Cause of Developmental Delay
6. The prevalence and clinical relevance of hyperhomocysteinemia suggesting vitamin B12 deficiency in presumed healthy infants
7. Late-Onset Molybdenum Cofactor Deficiency Type A:A Treatable Cause of Developmental Delay
8. Utility and limitations of EEG in the diagnosis and management of ALDH7A1-related pyridoxine-dependent epilepsy. A retrospective observational study
9. Newborn Genetic Screening—Still a Role for Sanger Sequencing in the Era of NGS
10. Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
11. Fasting and non‐fasting plasma levels of monomethyl branched chain fatty acids: Implications for maple syrup urine disease
12. Corrigendum to “The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study” [Epilepsy Res. 190 (2023) 107099]
13. BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening
14. Fasting and non‐fasting plasma levels of monomethyl branched chain fatty acids: Implications for maple syrup urine disease.
15. BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening
16. The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study
17. Vitamin B12 Deficiency (Un-)Detected Using Newborn Screening in Norway
18. A Retrospective Evaluation of the Predictive Value of Newborn Screening for Vitamin B12 Deficiency in Symptomatic Infants Below 1 Year of Age
19. Nitrous oxide in labour predicted newborn screening total homocysteine and is a potential risk factor for infant vitamin B12 deficiency
20. Lower iron stores were associated with suboptimal gross motor scores in infants at 3–7 months
21. Breastfed Infants With Spells, Tremor, or Irritability: Rule Out Vitamin B12 Deficiency
22. Angiotensin II type 1 receptor antibodies in childhood kidney transplantation
23. Reference Material for Hammersmith Infant Neurologic Examination Scores Based on Healthy, Term Infants Age 3-7 Months
24. Novel mutations in theHADHBgene causing a mild phenotype of mitochondrial trifunctional protein ( MTP ) deficiency
25. Reply
26. Nitrous oxide to the mother in labor is associated with infant vitamin B12 deficiency during the first year of life
27. Early presentation of infant vitamin B12 deficiency was associated with use of nitrous oxide as pain relief during labor and exclusive breastfeeding
28. Liver and/or kidney transplantation in amino and organic acid-related inborn errors of metabolism:An overview on European data
29. Left ventricular function in children and adults after renal transplantation in childhood
30. Cardiorespiratory fitness in young adults with a history of renal transplantation in childhood
31. Kidney transplantation in childhood: mental health and quality of life of children and caregivers
32. Cardiorespiratory fitness is a marker of cardiovascular health in renal transplanted children
33. Challenges in Transition From Childhood to Adulthood Care in Rare Metabolic Diseases: Results From the First Multi-Center European Survey
34. Novel mutations in the HADHB gene causing a mild phenotype of mitochondrial trifunctional protein (MTP) deficiency.
35. A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction
36. Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency
37. Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses
38. Long-term outcome of pediatric renal transplantation: The Norwegian experience in three eras 1970–2006
39. Research activity and capability in the European reference network MetabERN
40. Research activity and capability in the European reference network MetabERN
41. Liver and/or kidney transplantation in amino and organic acid‐related inborn errors of metabolism: An overview on European data.
42. A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction.
43. Small effort, high impact: Focus on physical activity improves oxygen uptake (VO2peak ), quality of life, and mental health after pediatric renal transplantation
44. An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency
45. Erratum: Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis (Genetics in Medicine (2016)) DOI: 10.1038/gim.2015.201)
46. Identification of a novel BCKDHA deletion causing maple syrup urine disease
47. Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis
48. Small effort, high impact: Focus on physical activity improves oxygen uptake (VO2peak), quality of life, and mental health after pediatric renal transplantation.
49. Survival, cardiorespiratory fitness and quality of life after renal transplantation in childhood: Data from the HENT study
50. Nyttig om kommunikasjon med syke barn
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