Retrospective Review of Positive Newborn Screening Results for Isovaleric Acidemia and Development of a Strategy to Improve the Efficacy of Newborn Screening in the UK.

Autor: Carling, Rachel S., Hedgethorne, Katy, Chakrapani, Anupam, Hall, Patricia L., Flynn, Nick, Greenfield, Toby, Moat, Stuart J., Ssali, Joshua, Shakespeare, Lynette, Taj, Nazia, Wu, Teresa H. Y., Anderson, Mark, Ghosh, Arunabha, Lemonde, Hugh, Pierre, Germaine, Sharrard, Mark, Sreekantam, Sreevidya, Bonham, James R.

Publikováno v: International Journal of Neonatal Screening (IJNS); Mar2024, Vol. 10 Issue 1, p24, 8p

Co-designing Improved Communication of Newborn Bloodspot Screening Results to Parents: Mixed Methods Study.

Autor: Chudleigh, Jane¹ jane.2.chudleigh@kcl.ac.uk, Shakespeare, Lynette², Holder, Pru¹, Chinnery, Holly³, Hack, Gemma⁴, Gill, Tanya⁴, Gould, Rachel⁵, Southern, Kevin W⁶, Olander, Ellinor K⁷, Morris, Stephen⁸, Bonham, James R², Simpson, Alan⁹, Moody, Louise¹⁰

Publikováno v: Journal of Participatory Medicine. Jan-Dec2022, Vol. 14 Issue 1, p77-94. 18p.

Beta-cell dysfunction, insulin sensitivity, and glycosuria precede diabetes in hepatocyte nuclear factor-1alpha mutation carriers.

Autor: Stride, Amanda, Ellard, Sian, Clark, Penny, Shakespeare, Lynette, Salzmann, Maurice, Shepherd, Maggie, Hattersley, Andrew T

Publikováno v: Diabetes Care; Jul2005, Vol. 28 Issue 7, p1751-1756, 6p

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Incidental Detection of Classical Galactosemia through Newborn Screening for Phenylketonuria: A 10-Year Retrospective Audit to Determine the Efficacy of This Approach.

Autor: Cantley NWP; South West Newborn Screening and Metabolic Laboratory, Severn Pathology, Southmead Hospital, Bristol BS10 5NB, UK., Barski R; Biochemical Genetics, Specialist Laboratory Medicine, Block 46, St James University Hospital, Leeds LS9 7TF, UK., Kemp H; South West Newborn Screening and Metabolic Laboratory, Severn Pathology, Southmead Hospital, Bristol BS10 5NB, UK., Hogg SL; Biochemical Genetics Unit, Cambridge University Hospitals, Cambridge CB2 0QQ, UK., Wu HYT; Willink Biochemical Genetics Laboratory, Genomic Medicine, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK., Bowron A; Metabolic and Newborn Screening Section, Department of Blood Sciences, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle-Upon-Tyne NE1 4LP, UK., Collingwood C; Biochemistry Department, Alder Hey Children's NHS Foundation Trust, Liverpool L12 2AP, UK., Cundick J; Regional Newborn Screening Laboratory, Royal Victoria Hospital, Belfast BT12 6BA, UK., Hart C; Department of Clinical Chemistry and Newborn Screening, Sheffield Children's Hospital, Sheffield S10 2TH, UK., Shakespeare L; Department of Clinical Chemistry and Newborn Screening, Sheffield Children's Hospital, Sheffield S10 2TH, UK., Preece MA; Newborn Screening and Biochemical Genetics, Paediatric Laboratory Medicine, Birmingham Children's Hospital, Steelhouse Lane, Birmingham B4 6NH, UK., Aitkenhead H; Department of Chemical Pathology, Great Ormond Street Hospital for Children, London WC1N 3JH, UK., Smith S; Scottish Newborn Screening Laboratory, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK., Carling RS; Biochemical Sciences, Synnovis, Guys & St Thomas' NHS Foundation Trust, London SE1 7EH, UK.; GKT School Medical Education, Kings College London, London WC2R 2LS, UK., Moat SJ; Department of Medical Biochemistry, Immunology & Toxicology, University Hospital Wales, Cardiff CF14 4XW, UK.; School of Medicine, Cardiff University, Cardiff CF14 4XW, UK.

Publikováno v: International journal of neonatal screening [Int J Neonatal Screen] 2023 Dec 22; Vol. 10 (1). Date of Electronic Publication: 2023 Dec 22.