Epigenotype–phenotype correlations in Silver–Russell syndrome

Emma Wakeling, S. A. Amero, Mariëlle Alders, +16

Journal of Medical Genetics

Kidney transplantation in childhood: mental health and quality of life of children and caregivers

Trond H. Diseth, Trine Tangeraas, Trude Reinfjell, +1

Pediatric Nephrology

Challenges in Transition From Childhood to Adulthood Care in Rare Metabolic Diseases: Results From the First Multi-Center European Survey

Karolina M. Stępień, Beata Kieć‐Wilk, Christina Lampe, +16

Frontiers in Medicine

Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency

Janne Strand, Kiran Aftab Gul, Hans Christian Erichsen, +25

Frontiers in Immunology

An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

Signe Mosegaard, Gitte Hoffmann Bruun, Karen Freund Flyvbjerg, +7

Molecular Genetics and Metabolism

Exon SkippingGenetic DisorderNatural SciencesGeneticsBiochemical Genetics +8

Liver and/or kidney transplantation in amino and organic acid‐related inborn errors of metabolism: An overview on European data

Femke Molema, Diego Martinelli, Friederike Hörster, +5

Journal of Inherited Metabolic Disease

Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis

Carmen Dı́ez-Fernández, Véronique Rüfenacht, Saikat Santra, +9

Genetics in Medicine

Life-threatening Metabolic CrisisEnergy MetabolismHepatologyBiochemistryLiver Physiology +11

Long‐term outcome of pediatric renal transplantation: The Norwegian experience in three eras 1970–2006

Trine Tangeraas, Anna Bjerre, B Lien, +5

Pediatric Transplantation

Solid Organ TransplantationRenal PathologyTransplantation MedicinePediatric Renal TransplantationSurgery +18

Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses

Trine Tangeraas, Ingjerd Sæves, Claus Klingenberg, +30

International Journal of Neonatal Screening

Genetic TestingNeonatologyGeneticsGenetic EpidemiologyDiagnosis +24

BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening

Trine Tangeraas, Juliana Ribeiro Constante, Paul Hoff Backe, +28

Brain