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Clinical Nutrition (Edinburgh, Scotland)|December 28, 2020
Failure of national antenatal vitamin D supplementation programme puts dark skinned infants at highest risk: A newborn bloodspot screening studySuma Uday, Sunia Naseem, Jamie Large, et al.Biochimica Et Biophysica Acta. Molecular Basis of Disease|December 31, 2017
A novel case of ACOX2 deficiency leads to recognition of a third human peroxisomal acyl-CoA oxidaseSacha Ferdinandusse, Simone Denis, Carlo W T van Roermund, et al.Nutrients|April 25, 2020
Natural Protein Tolerance and Metabolic Control in Patients with Hereditary Tyrosinaemia Type 1Ozlem Yilmaz, Anne Daly, Alex Pinto, et al.Molecular Genetics and Metabolism|March 14, 2016
Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritisSaikat Santra, Jessie M Cameron, Casper Shyr, et al.International Journal of Neonatal Screening|January 22, 2024
Incidental Detection of Classical Galactosemia through Newborn Screening for Phenylketonuria: A 10-Year Retrospective Audit to Determine the Efficacy of This ApproachNathan W P Cantley, Robert Barski, Helena Kemp, et al.American Journal of Human Genetics|February 18, 2014
Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhoodClara D van Karnebeek, William S Sly, Colin J Ross, et al.Pageof 2