Pollard L - Search Results

1

3-Methylglutaconic aciduria in carriers of primary carnitine deficiency.

Ziats CA, Burns WB, Tedder ML, Pollard L, Wood T, Champaigne NL. Ziats CA, et al. Among authors: pollard l. Eur J Med Genet. 2021 Dec;64(12):104365. doi: 10.1016/j.ejmg.2021.104365. Epub 2021 Oct 9. Eur J Med Genet. 2021. PMID: 34637945

2

Diagnosis, treatment, and long-term outcomes of late-onset (type III) multiple acyl-CoA dehydrogenase deficiency.

Pollard LM, Williams NR, Espinoza L, Wood TC, Spector EB, Schroer RJ, Holden KR. Pollard LM, et al. J Child Neurol. 2010 Aug;25(8):954-60. doi: 10.1177/0883073809351984. Epub 2009 Dec 18. J Child Neurol. 2010. PMID: 20023066

3

Quantification of branched-chain amino acids in blood spots and plasma by liquid chromatography tandem mass spectrometry for the diagnosis of maple syrup urine disease.

Sowell J, Pollard L, Wood T. Sowell J, et al. Among authors: pollard l. J Sep Sci. 2011 Mar;34(6):631-9. doi: 10.1002/jssc.201000573. Epub 2011 Feb 15. J Sep Sci. 2011. PMID: 21328532

4

Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.

Pollard LM, Jones JR, Wood TC. Pollard LM, et al. J Inherit Metab Dis. 2013 Mar;36(2):179-87. doi: 10.1007/s10545-012-9533-7. Epub 2012 Sep 14. J Inherit Metab Dis. 2013. PMID: 22976768

5

Primary Carnitine Deficiency Presents Atypically with Long QT Syndrome: A Case Report.

De Biase I, Champaigne NL, Schroer R, Pollard LM, Longo N, Wood T. De Biase I, et al. JIMD Rep. 2012;2:87-90. doi: 10.1007/8904_2011_52. Epub 2011 Sep 6. JIMD Rep. 2012. PMID: 23430858 Free PMC article.

6

New observation of sialuria prompts detection of liver tumor in previously reported patient.

Champaigne NL, Leroy JG, Kishnani PS, Decaestecker J, Steenkiste E, Chaubey A, Li J, Verslype C, Van Dorpe J, Pollard L, Goldstein JL, Libbrecht L, Basehore M, Chen N, Hu H, Wood T, Friez MJ, Huizing M, Stevenson RE. Champaigne NL, et al. Among authors: pollard l. Mol Genet Metab. 2016 Jun;118(2):92-9. doi: 10.1016/j.ymgme.2016.04.004. Epub 2016 Apr 16. Mol Genet Metab. 2016. PMID: 27142465 Free PMC article.

7

Measurement of Elevated Concentrations of Urine Keratan Sulfate by UPLC-MSMS in Lysosomal Storage Disorders (LSDs): Comparison of Urine Keratan Sulfate Levels in MPS IVA Versus Other LSDs.

Ellsworth KA, Pollard LM, Cathey S, Wood T. Ellsworth KA, et al. JIMD Rep. 2017;34:11-18. doi: 10.1007/8904_2016_1. Epub 2016 Jul 28. JIMD Rep. 2017. PMID: 27469132 Free PMC article.

8

UPLC-MS/MS Analysis of Urinary Free Oligosaccharides for Lysosomal Storage Diseases: Diagnosis and Potential Treatment Monitoring.

Huang R, Cathey S, Pollard L, Wood T. Huang R, et al. Among authors: pollard l. Clin Chem. 2018 Dec;64(12):1772-1779. doi: 10.1373/clinchem.2018.289645. Epub 2018 Sep 10. Clin Chem. 2018. PMID: 30201803

9

A Biochemical Platform to Define the Relative Specific Activity of IDUA Variants Identified by Newborn Screening.

Yu SH, Pollard L, Wood T, Flanagan-Steet H, Steet R. Yu SH, et al. Among authors: pollard l. Int J Neonatal Screen. 2020 Nov 12;6(4):88. doi: 10.3390/ijns6040088. Int J Neonatal Screen. 2020. PMID: 33198351 Free PMC article.

10

Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.

Zanetti A, D'Avanzo F, AlSayed M, Brusius-Facchin AC, Chien YH, Giugliani R, Izzo E, Kasper DC, Lin HY, Lin SP, Pollard L, Singh A, Tonin R, Wood T, Morrone A, Tomanin R. Zanetti A, et al. Among authors: pollard l. Hum Mutat. 2021 Nov;42(11):1384-1398. doi: 10.1002/humu.24270. Epub 2021 Aug 23. Hum Mutat. 2021. PMID: 34387910 Free PMC article. Review.

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