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Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatment.
Wu THY, Brown HA, Church HJ, Kershaw CJ, Hutton R, Egerton C, Cooper J, Tylee K, Cohen RN, Gokhale D, Ram D, Morton G, Henderson M, Bigger BW, Jones SA. Wu THY, et al. Among authors: henderson m. Mol Genet Metab. 2024 May;142(1):108349. doi: 10.1016/j.ymgme.2024.108349. Epub 2024 Feb 20. Mol Genet Metab. 2024. PMID: 38458124 Free article.
Multicentre age-related reference intervals for cerebrospinal fluid serine concentrations: implications for the diagnosis and follow-up of serine biosynthesis disorders.
Moat S, Carling R, Nix A, Henderson M, Briddon A, Prunty H, Talbot R, Powell A, Wright K, Fuchs S, de Koning T. Moat S, et al. Among authors: henderson m. Mol Genet Metab. 2010 Oct-Nov;101(2-3):149-52. doi: 10.1016/j.ymgme.2010.07.006. Epub 2010 Jul 15. Mol Genet Metab. 2010. PMID: 20692860
Delayed diagnosis of phenylketonuria - a case report of two siblings.
Narayanan D, Barski R, Henderson MJ, Luvai A, Chandrajay D, Stainforth C, Bradley J, Rogozinski H, Sharma R. Narayanan D, et al. Ann Clin Biochem. 2014 May;51(Pt 3):406-8. doi: 10.1177/0004563213503818. Epub 2013 Oct 4. Ann Clin Biochem. 2014. PMID: 24097808
Recommendations for reporting results of diagnostic genomic testing.
Deans ZC, Ahn JW, Carreira IM, Dequeker E, Henderson M, Lovrecic L, Õunap K, Tabiner M, Treacy R, van Asperen CJ. Deans ZC, et al. Among authors: henderson m. Eur J Hum Genet. 2022 Sep;30(9):1011-1016. doi: 10.1038/s41431-022-01091-0. Epub 2022 Apr 1. Eur J Hum Genet. 2022. PMID: 35361922 Free PMC article.
Regulatory landscape of providing information on newborn screening to parents across Europe.
Franková V, Driscoll RO, Jansen ME, Loeber JG, Kožich V, Bonham J, Borde P, Brincat I, Cheillan D, Dekkers E, Fingerhut R, Kuš IB, Girginoudis P, Groselj U, Hougaard D, Knapková M, la Marca G, Malniece I, Nanu MI, Nennstiel U, Olkhovych N, Oltarzewski M, Pettersen RD, Racz G, Reinson K, Salimbayeva D, Songailiene J, Vilarinho L, Vogazianos M, Zetterström RH, Zeyda M; Members of the European Society of Human Genetics (ESHG)-EuroGentest Quality Sub-Committee. Franková V, et al. Eur J Hum Genet. 2021 Jan;29(1):67-78. doi: 10.1038/s41431-020-00716-6. Epub 2020 Oct 10. Eur J Hum Genet. 2021. PMID: 33040093 Free PMC article.
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.
Morris AA, Kožich V, Santra S, Andria G, Ben-Omran TI, Chakrapani AB, Crushell E, Henderson MJ, Hochuli M, Huemer M, Janssen MC, Maillot F, Mayne PD, McNulty J, Morrison TM, Ogier H, O'Sullivan S, Pavlíková M, de Almeida IT, Terry A, Yap S, Blom HJ, Chapman KA. Morris AA, et al. Among authors: henderson mj. J Inherit Metab Dis. 2017 Jan;40(1):49-74. doi: 10.1007/s10545-016-9979-0. Epub 2016 Oct 24. J Inherit Metab Dis. 2017. PMID: 27778219 Free PMC article. Review.
Long COVID and cardiovascular disease: a prospective cohort study.
Lawson CA, Moss AJ, Arnold JR, Bagot C, Banerjee A, Berry C, Greenwood J, Hughes AD, Khunti K, Mills NL, Neubauer S, Raman B, Sattar N, Leavy OC, Richardson M, Elneima O, McAuley HJ, Shikotra A, Singapuri A, Sereno M, Saunders R, Harris V, Houchen-Wolloff L, Greening NJ, Harrison E, Docherty AB, Lone NI, Quint JK, Chalmers J, Ho LP, Horsley A, Marks M, Poinasamy K, Evans R, Wain LV, Brightling C, McCann GP; PHOSP-COVID Study Collaborative Group. Lawson CA, et al. Open Heart. 2024 May 27;11(1):e002662. doi: 10.1136/openhrt-2024-002662. Open Heart. 2024. PMID: 38802280 Free PMC article.
1,880 results