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Items: 1 to 20 of 49

1.

Urea Cycle Related Amino Acids Measured in Dried Bloodspots Enable Long-Term In Vivo Monitoring and Therapeutic Adjustment.

Baruteau J, Khalil Y, Grunewald S, Zancolli M, Chakrapani A, Cleary M, Davison J, Footitt E, Waddington SN, Gissen P, Mills P.

Metabolites. 2019 Nov 12;9(11). pii: E275. doi: 10.3390/metabo9110275.

2.

Free urinary glycosylated hydroxylysine as an indicator of altered collagen degradation in the mucopolysaccharidoses.

Patel N, Mills P, Davison J, Cleary M, Gissen P, Banushi B, Doykov I, Dorman M, Mills K, Heywood WE.

J Inherit Metab Dis. 2019 Aug 26. doi: 10.1002/jimd.12166. [Epub ahead of print]

PMID:
31452203
3.

Commensal Bacteria Regulate Gene Expression and Differentiation in Vertebrate Olfactory Systems Through Transcription Factor REST.

Casadei E, Tacchi L, Lickwar CR, Espenschied ST, Davison JM, Muñoz P, Rawls JF, Salinas I.

Chem Senses. 2019 Oct 17;44(8):615-630. doi: 10.1093/chemse/bjz050.

PMID:
31403159
4.

Clinically relevant differences in the selection of toric intraocular lens power in normal eyes: preoperative measurement vs intraoperative aberrometry.

Davison JA, Makari S, Potvin R.

Clin Ophthalmol. 2019 May 30;13:913-920. doi: 10.2147/OPTH.S205352. eCollection 2019.

5.

Visual Loss Post Ross Procedure in an Adolescent With Newly Diagnosed Mucopolysaccharidosis Type II.

Curran L, Davison J, Shaughnessy L, Shore D, Franklin RC.

Ann Thorac Surg. 2019 Nov;108(5):e297-e299. doi: 10.1016/j.athoracsur.2019.03.011. Epub 2019 Apr 3.

PMID:
30953652
6.

Probiotic and synbiotic therapy in the critically ill: State of the art.

Davison JM, Wischmeyer PE.

Nutrition. 2019 Mar;59:29-36. doi: 10.1016/j.nut.2018.07.017. Epub 2018 Aug 7.

PMID:
30415160
7.

Thalamic and dentate nucleus abnormalities in the brain of children with Gaucher disease.

Perucca G, Soares BP, Staglianò S, Davison J, Chakrapani A, D'Arco F.

Neuroradiology. 2018 Dec;60(12):1353-1356. doi: 10.1007/s00234-018-2116-z. Epub 2018 Oct 17.

PMID:
30328501
8.

Fifteen-minute consultation: Red flags for metabolic disease in routine bloods.

Hart C, Davison JE, Cleary MA.

Arch Dis Child Educ Pract Ed. 2019 Feb;104(1):16-19. doi: 10.1136/archdischild-2017-313886. Epub 2018 May 19. No abstract available.

PMID:
29779011
9.

February consultation #2.

Davison JA.

J Cataract Refract Surg. 2018 Feb;44(2):248. doi: 10.1016/j.jcrs.2018.02.003. No abstract available.

PMID:
29587980
10.

Gene Editing: A View Through the Prism of Inherited Metabolic Disorders.

Davison J.

New Bioeth. 2018 Apr;24(1):2-8. doi: 10.1080/20502877.2018.1443563.

PMID:
29529978
11.

Zebrafish Transcription Factor ORFeome for Gene Discovery and Regulatory Network Elucidation.

King J, Foster J, Davison JM, Rawls JF, Breton G.

Zebrafish. 2018 Apr;15(2):202-205. doi: 10.1089/zeb.2017.1486. Epub 2017 Nov 27.

12.

Isolated aortic root dilation in homocystinuria.

Lorenzini M, Guha N, Davison JE, Pitcher A, Pandya B, Kemp H, Lachmann R, Elliott PM, Murphy E.

J Inherit Metab Dis. 2018 Jan;41(1):109-115. doi: 10.1007/s10545-017-0094-7. Epub 2017 Oct 4.

13.

Recognition, investigation and management of mitochondrial disease.

Davison JE, Rahman S.

Arch Dis Child. 2017 Nov;102(11):1082-1090. doi: 10.1136/archdischild-2016-311370. Epub 2017 Jun 24. Review.

PMID:
28647693
14.

Preoperative measurement vs intraoperative aberrometry for the selection of intraocular lens sphere power in normal eyes.

Davison JA, Potvin R.

Clin Ophthalmol. 2017 May 17;11:923-929. doi: 10.2147/OPTH.S135659. eCollection 2017.

15.

Microbiota regulate intestinal epithelial gene expression by suppressing the transcription factor Hepatocyte nuclear factor 4 alpha.

Davison JM, Lickwar CR, Song L, Breton G, Crawford GE, Rawls JF.

Genome Res. 2017 Jul;27(7):1195-1206. doi: 10.1101/gr.220111.116. Epub 2017 Apr 6.

16.

Expanding the phenotype in argininosuccinic aciduria: need for new therapies.

Baruteau J, Jameson E, Morris AA, Chakrapani A, Santra S, Vijay S, Kocadag H, Beesley CE, Grunewald S, Murphy E, Cleary M, Mundy H, Abulhoul L, Broomfield A, Lachmann R, Rahman Y, Robinson PH, MacPherson L, Foster K, Chong WK, Ridout DA, Bounford KM, Waddington SN, Mills PB, Gissen P, Davison JE.

J Inherit Metab Dis. 2017 May;40(3):357-368. doi: 10.1007/s10545-017-0022-x. Epub 2017 Mar 1.

17.

How to use… white blood cell enzyme assays.

Davison J.

Arch Dis Child Educ Pract Ed. 2017 Jun;102(3):143-147. doi: 10.1136/archdischild-2015-309964. Epub 2016 Nov 15.

PMID:
27852635
18.

Swallow Prognosis and Follow-Up Protocol in Infantile Onset Pompe Disease.

Swift G, Cleary M, Grunewald S, Lozano S, Ryan M, Davison J.

JIMD Rep. 2017;33:11-17. doi: 10.1007/8904_2016_576. Epub 2016 Jun 26.

19.
20.

Refractive cylinder outcomes after calculating toric intraocular lens cylinder power using total corneal refractive power.

Davison JA, Potvin R.

Clin Ophthalmol. 2015 Aug 19;9:1511-7. doi: 10.2147/OPTH.S88693. eCollection 2015.

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