Hall PL - Search Results

1

Increased parental anxiety and a benign clinical course: Infants identified with short-chain acyl-CoA dehydrogenase deficiency and isobutyryl-CoA dehydrogenase deficiency through newborn screening in Georgia.

Sadat R, Hall PL, Wittenauer AL, Vengoechea ED, Park K, Hagar AF, Singh R, Moore RH, Gambello MJ. Sadat R, et al. Among authors: hall pl. Mol Genet Metab. 2020 Jan;129(1):20-25. doi: 10.1016/j.ymgme.2019.11.008. Epub 2019 Nov 27. Mol Genet Metab. 2020. PMID: 31813752

2

Newborn screening for medium chain acyl-CoA dehydrogenase deficiency: performance improvement by monitoring a new ratio.

Hall PL, Wittenauer A, Hagar A. Hall PL, et al. Mol Genet Metab. 2014 Dec;113(4):274-7. doi: 10.1016/j.ymgme.2014.10.007. Epub 2014 Oct 16. Mol Genet Metab. 2014. PMID: 25454677

3

Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Adulthood: A Potential Diagnosis in a Patient with Mental Status Changes Suspected of Drug Toxicity.

Randall M, Rolf C, Gibson SM, Hall PL, Rinaldo P, Davis GJ. Randall M, et al. Among authors: hall pl. J Forensic Sci. 2015 Jul;60(4):1101-3. doi: 10.1111/1556-4029.12808. J Forensic Sci. 2015. PMID: 26223762

4

Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing.

Narravula A, Garber KB, Askree SH, Hegde M, Hall PL. Narravula A, et al. Among authors: hall pl. Genet Med. 2017 Jan;19(1):77-82. doi: 10.1038/gim.2016.67. Epub 2016 Jun 16. Genet Med. 2017. PMID: 27308838 Free article.

5

Acute liver failure in neonates with undiagnosed hereditary fructose intolerance due to exposure from widely available infant formulas.

Li H, Byers HM, Diaz-Kuan A, Vos MB, Hall PL, Tortorelli S, Singh R, Wallenstein MB, Allain M, Dimmock DP, Farrell RM, McCandless S, Gambello MJ. Li H, et al. Among authors: hall pl. Mol Genet Metab. 2018 Apr;123(4):428-432. doi: 10.1016/j.ymgme.2018.02.016. Epub 2018 Feb 27. Mol Genet Metab. 2018. PMID: 29510902

6

Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency.

Hall PL, Lam C, Alexander JJ, Asif G, Berry GT, Ferreira C, Freeze HH, Gahl WA, Nickander KK, Sharer JD, Watson CM, Wolfe L, Raymond KM. Hall PL, et al. Mol Genet Metab. 2018 May;124(1):82-86. doi: 10.1016/j.ymgme.2018.03.002. Epub 2018 Mar 10. Mol Genet Metab. 2018. PMID: 29550355 Free PMC article.

7

Two-Tiered Newborn Screening with Post-Analytical Tools for Pompe Disease and Mucopolysaccharidosis Type I Results in Performance Improvement and Future Direction.

Hall PL, Sanchez R, Hagar AF, Jerris SC, Wittenauer A, Wilcox WR. Hall PL, et al. Int J Neonatal Screen. 2020 Mar;6(1):2. doi: 10.3390/ijns6010002. Epub 2020 Jan 14. Int J Neonatal Screen. 2020. PMID: 32064362 Free PMC article.

8

Post-Analytical Tools for the Triage of Newborn Screening Results in Follow-up Can Reduce Confirmatory Testing and Guide Performance Improvement.

Hall PL, Wittenauer A, Hagar A. Hall PL, et al. Int J Neonatal Screen. 2020 Mar 14;6(1):20. doi: 10.3390/ijns6010020. eCollection 2020 Mar. Int J Neonatal Screen. 2020. PMID: 33073017 Free PMC article.

9

Newborn Screening for X-Linked Adrenoleukodystrophy in Georgia: Experiences from a Pilot Study Screening of 51,081 Newborns.

Hall PL, Li H, Hagar AF, Jerris SC, Wittenauer A, Wilcox W. Hall PL, et al. Int J Neonatal Screen. 2020 Oct 23;6(4):81. doi: 10.3390/ijns6040081. Int J Neonatal Screen. 2020. PMID: 33239602 Free PMC article.

10

[No title available]

[No authors listed] [No authors listed] PMID: 33561100

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