Pollard L - Search Results

1

Laboratory analysis of organic acids, 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Gallagher RC, Pollard L, Scott AI, Huguenin S, Goodman S, Sun Q; ACMG Biochemical Genetics Subcommittee of the Laboratory Quality Assurance Committee. Gallagher RC, et al. Among authors: pollard l. Genet Med. 2018 Jul;20(7):683-691. doi: 10.1038/gim.2018.45. Epub 2018 Mar 15. Genet Med. 2018. PMID: 29543224 Free article.

2

Hereditary fructose intolerance mimicking a biochemical phenotype of mucolipidosis: A review of the literature of secondary causes of lysosomal enzyme activity elevation in serum.

Ferreira CR, Devaney JM, Hofherr SE, Pollard LM, Cusmano-Ozog K. Ferreira CR, et al. Am J Med Genet A. 2017 Feb;173(2):501-509. doi: 10.1002/ajmg.a.38023. Epub 2016 Oct 31. Am J Med Genet A. 2017. PMID: 27797444 Free PMC article. Review.

3

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

4

The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors.

Deignan JL, Aggarwal V, Bale AE, Bellissimo DB, Booker JK, Cao Y, Crooks KR, Deak KL, Del Gaudio D, Funke B, Hoppman NL, Horner V, Hufnagel RB, Jackson-Cook C, Koduru P, Leung ML, Li S, Liu P, Luo M, Mao R, Mason-Suares H, Mikhail FM, Moore SR, Naeem RC, Pollard LM, Repnikova EA, Shao L, Shaw BM, Shetty S, Smolarek TA, Spiteri E, Van Ziffle J, Vance GH, Vnencak-Jones CL, Williams ES. Deignan JL, et al. Among authors: pollard lm. Genet Med Open. 2024;2:101820. doi: 10.1016/j.gimo.2024.101820. Epub 2024 Feb 1. Genet Med Open. 2024. PMID: 39175871 Free PMC article.

5

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

6

Protein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type II.

Richter JE Jr, Zimmermann MT, Blackburn PR, Mohammad AN, Klee EW, Pollard LM, Macmurdo CF, Atwal PS, Caulfield TR. Richter JE Jr, et al. Mol Genet Genomic Med. 2018 Nov;6(6):1229-1235. doi: 10.1002/mgg3.454. Epub 2018 Sep 5. Mol Genet Genomic Med. 2018. PMID: 30187681 Free PMC article.

7

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

8

Multiplex tandem mass spectrometry enzymatic activity assay for the screening and diagnosis of Mucolipidosis type II and III.

Hong X, Pollard L, He M, Gelb MH, Wood TC. Hong X, et al. Among authors: pollard l. Mol Genet Metab Rep. 2023 May 16;35:100978. doi: 10.1016/j.ymgmr.2023.100978. eCollection 2023 Jun. Mol Genet Metab Rep. 2023. PMID: 37275682 Free PMC article.

9

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

10

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

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