Publications by Trine Tangeraas
38 publications found
Original articles
Utility and limitations of EEG in the diagnosis and management of ALDH7A1-related pyridoxine-dependent epilepsy. A retrospective observational study
Front Neurol, 15, 1355861
DOI 10.3389/fneur.2024.1355861, PubMed 38419708
Real-World Experience of Carglumic Acid for Methylmalonic and Propionic Acidurias: An Interim Analysis of the Multicentre Observational PROTECT Study
Drugs R D (in press)
DOI 10.1007/s40268-023-00449-z, PubMed 38198106
Newborn Genetic Screening-Still a Role for Sanger Sequencing in the Era of NGS
Int J Neonatal Screen, 9 (4)
DOI 10.3390/ijns9040067, PubMed 38132826
Fasting and non-fasting plasma levels of monomethyl branched chain fatty acids: Implications for maple syrup urine disease
JIMD Rep, 64 (5), 360-366
DOI 10.1002/jmd2.12380, PubMed 37701324
BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening
Brain, 146 (7), 3003-3013
DOI 10.1093/brain/awad010, PubMed 36729635
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
Mol Genet Metab, 139 (3), 107624
DOI 10.1016/j.ymgme.2023.107624, PubMed 37348148
The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study
Epilepsy Res, 190, 107099
DOI 10.1016/j.eplepsyres.2023.107099, PubMed 36731270
Vitamin B12 Deficiency (Un-)Detected Using Newborn Screening in Norway
Int J Neonatal Screen, 9 (1)
DOI 10.3390/ijns9010003, PubMed 36648770
A Retrospective Evaluation of the Predictive Value of Newborn Screening for Vitamin B12 Deficiency in Symptomatic Infants Below 1 Year of Age
Int J Neonatal Screen, 8 (4)
DOI 10.3390/ijns8040066, PubMed 36547383
Renal outcome and plasma methylmalonic acid levels after isolated or combined liver or kidney transplantation in patients with methylmalonic acidemia: A multicenter analysis
Mol Genet Metab, 137 (3), 265-272
DOI 10.1016/j.ymgme.2022.09.010, PubMed 36240580
Nitrous oxide in labour predicted newborn screening total homocysteine and is a potential risk factor for infant vitamin B12 deficiency
Acta Paediatr, 111 (12), 2315-2321
DOI 10.1111/apa.16530, PubMed 36029294
Lower iron stores were associated with suboptimal gross motor scores in infants at 3-7 months
Acta Paediatr, 111 (10), 1941-1949
DOI 10.1111/apa.16469, PubMed 35766116
Breastfed Infants With Spells, Tremor, or Irritability: Rule Out Vitamin B12 Deficiency
Pediatr Neurol, 131, 4-12
DOI 10.1016/j.pediatrneurol.2022.03.003, PubMed 35439713
Reference Material for Hammersmith Infant Neurologic Examination Scores Based on Healthy, Term Infants Age 3-7 Months
J Pediatr, 244, 79-85.e12
DOI 10.1016/j.jpeds.2022.01.032, PubMed 35093317
The prevalence and clinical relevance of hyperhomocysteinemia suggesting vitamin B12 deficiency in presumed healthy infants
Eur J Paediatr Neurol, 35, 137-146
DOI 10.1016/j.ejpn.2021.10.008, PubMed 34717141
Challenges in Transition From Childhood to Adulthood Care in Rare Metabolic Diseases: Results From the First Multi-Center European Survey
Front Med (Lausanne), 8, 652358
DOI 10.3389/fmed.2021.652358, PubMed 33738294
A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction
Hum Mutat, 42 (2), 135-141
DOI 10.1002/humu.24137, PubMed 33169484
Liver and/or kidney transplantation in amino and organic acid-related inborn errors of metabolism: An overview on European data
J Inherit Metab Dis, 44 (3), 593-605
DOI 10.1002/jimd.12318, PubMed 32996606
Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency
Front Immunol, 11, 1417
DOI 10.3389/fimmu.2020.01417, PubMed 32754152
Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses
Int J Neonatal Screen, 6 (3), 51
DOI 10.3390/ijns6030051, PubMed 33123633
Small effort, high impact: Focus on physical activity improves oxygen uptake (VO2peak ), quality of life, and mental health after pediatric renal transplantation
Pediatr Transplant, 22 (6), e13242
DOI 10.1111/petr.13242, PubMed 29921004
An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency
Mol Genet Metab, 122 (4), 182-188
DOI 10.1016/j.ymgme.2017.10.014, PubMed 29122468
Identification of a novel BCKDHA deletion causing maple syrup urine disease
Meta Gene, 10, 86-89
DOI 10.1016/j.mgene.2016.02.004
Angiotensin II type 1 receptor antibodies in childhood kidney transplantation
Pediatr Transplant, 20 (5), 627-32
DOI 10.1111/petr.12728, PubMed 27251358
Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis
Genet Med, 18 (10), 991-1000
DOI 10.1038/gim.2015.201, PubMed 26913920
The prevalence of skin disorders in Norwegian paediatric renal transplant recipients
Acta Derm Venereol, 94 (4), 421-4
DOI 10.2340/00015555-1741, PubMed 24287733
Left ventricular function in children and adults after renal transplantation in childhood
Pediatr Nephrol, 27 (9), 1565-74
DOI 10.1007/s00467-012-2167-z, PubMed 22527532
Cardiorespiratory fitness in young adults with a history of renal transplantation in childhood
Pediatr Nephrol, 26 (11), 2041-9
DOI 10.1007/s00467-011-1898-6, PubMed 21541798
Kidney transplantation in childhood: mental health and quality of life of children and caregivers
Pediatr Nephrol, 26 (10), 1881-92
DOI 10.1007/s00467-011-1887-9, PubMed 21520007
Epigenotype-phenotype correlations in Silver-Russell syndrome
J Med Genet, 47 (11), 760-8
DOI 10.1136/jmg.2010.079111, PubMed 20685669
Cardiorespiratory fitness is a marker of cardiovascular health in renal transplanted children
Pediatr Nephrol, 25 (11), 2343-50
DOI 10.1007/s00467-010-1596-9, PubMed 20676694
Long-term outcome of pediatric renal transplantation: the Norwegian experience in three eras 1970-2006
Pediatr Transplant, 12 (7), 762-8
DOI 10.1111/j.1399-3046.2007.00896.x, PubMed 18208441
Distal phalangeal creases--a distinctive dysmorphic feature in disorders of the RAS signalling pathway?
Eur J Med Genet, 50 (2), 155-8
DOI 10.1016/j.ejmg.2006.12.003, PubMed 17324647
Other articles
Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
Mol Genet Metab, 139 (4), 107647
DOI 10.1016/j.ymgme.2023.107647, PubMed 37453860
Corrigendum to "The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study" [Epilepsy Res. 190 (2023) 107099]
Epilepsy Res, 198, 107113
DOI 10.1016/j.eplepsyres.2023.107113, PubMed 36906427
Reply
J Pediatr, 246, 287-288
DOI 10.1016/j.jpeds.2022.03.048, PubMed 35358585
Novel mutations in the HADHB gene causing a mild phenotype of mitochondrial trifunctional protein (MTP) deficiency
JIMD Rep, 63 (3), 193-198
DOI 10.1002/jmd2.12276, PubMed 35433169
Rescue of kidney function in a toddler with anti-GBM nephritis
Clin Kidney J, 5 (6), 584-586
DOI 10.1093/ckj/sfs146, PubMed 24422170