Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

249 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
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.
Relationship of octanoylcarnitine concentrations to age at sampling in unaffected newborns screened for medium-chain acyl-CoA dehydrogenase deficiency.
Khalid JM, Oerton J, Besley G, Dalton N, Downing M, Green A, Henderson M, Krywawych S, Wiley V, Wilcken B, Dezateux C; UK Collaborative Study of Newborn Screening for MCADD. Khalid JM, et al. Clin Chem. 2010 Jun;56(6):1015-21. doi: 10.1373/clinchem.2010.143891. Epub 2010 Apr 22. Clin Chem. 2010. PMID: 20413428
Ethnicity of children with homozygous c.985A>G medium-chain acyl-CoA dehydrogenase deficiency: findings from screening approximately 1.1 million newborn infants.
Khalid JM, Oerton J, Cortina-Borja M, Andresen BS, Besley G, Dalton RN, Downing M, Green A, Henderson M, Leonard J, Dezateux C; UK Collaborative Study of Newborn Screening for MCADD. Khalid JM, et al. J Med Screen. 2008;15(3):112-7. doi: 10.1258/jms.2008.008043. J Med Screen. 2008. PMID: 18927092
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. 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.
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. 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.
249 results