Wittenauer A - Search Results

1

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. Among authors: wittenauer a. 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

2

Georgia state spinal muscular atrophy newborn screening experience: Screening assay performance and early clinical outcomes.

Elkins K, Wittenauer A, Hagar AF, Logan R, Sekul E, Xiang Y, Verma S, Wilcox WR. Elkins K, et al. Among authors: wittenauer a. Am J Med Genet C Semin Med Genet. 2022 Jun;190(2):187-196. doi: 10.1002/ajmg.c.32003. Epub 2022 Sep 26. Am J Med Genet C Semin Med Genet. 2022. PMID: 36164257

3

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: wittenauer al. 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

4

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. Among authors: wittenauer a. 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.

5

[No title available]

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

6

Proximal urea cycle defects are challenging to detect with newborn screening: Results of a prospective pilot study using post-analytical tools.

Hall PL, Wittenauer AL, Wilcox WR. Hall PL, et al. Among authors: wittenauer al. Am J Med Genet C Semin Med Genet. 2022 Jun;190(2):178-186. doi: 10.1002/ajmg.c.31996. Epub 2022 Sep 13. Am J Med Genet C Semin Med Genet. 2022. PMID: 36097743

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. Among authors: wittenauer a. 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

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. Among authors: wittenauer a. Int J Neonatal Screen. 2020 Oct 23;6(4):81. doi: 10.3390/ijns6040081. Int J Neonatal Screen. 2020. PMID: 33239602 Free PMC article.

9

Health care practitioners' experience-based opinions on providing care after a positive newborn screen for Pompe disease.

Davids L, Sun Y, Moore RH, Lisi E, Wittenauer A, Wilcox WR, Ali N. Davids L, et al. Among authors: wittenauer a. Mol Genet Metab. 2021 Sep-Oct;134(1-2):20-28. doi: 10.1016/j.ymgme.2021.09.001. Epub 2021 Sep 15. Mol Genet Metab. 2021. PMID: 34602357

10

An incidental case of dihydropyrimidine dehydrogenase deficiency: One case, multiple challenges.

Al Khallaf HH, He M, Wittenauer A, Woolley EE, Cunto M, Pervaiz MA. Al Khallaf HH, et al. Among authors: wittenauer a. Indian J Hum Genet. 2013 Oct;19(4):483-6. doi: 10.4103/0971-6866.124382. Indian J Hum Genet. 2013. PMID: 24497719 Free PMC article.

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