Angela Wittenauer - Search Results

Year	Number of Results
2013	1
2014	1
2019	2
2020	4
2021	1
2022	3
2024	0

1

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

2

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

3

A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT.

Katler QS, Stepien KM, Paull N, Patel S, Adams M, Balci MC, Berry GT, Bosch AM, DeLaO A, Demirbas D, Edman J, Ficicioglu C, Goff M, Hacker S, Knerr I, Lancaster K, Li H, Mendelsohn BA, Nichols B, de Rezende Pinto WBV, Rocha JC, Rubio-Gozalbo ME, Saad-Naguib M, Scholl-Buergi S, Searcy S, de Souza PVS, Wittenauer A, Fridovich-Keil JL. Katler QS, et al. Among authors: wittenauer a. J Inherit Metab Dis. 2022 Nov;45(6):1106-1117. doi: 10.1002/jimd.12556. Epub 2022 Sep 26. J Inherit Metab Dis. 2022. PMID: 36093991 Free PMC article.

4

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

5

Developmental outcomes of children with Duarte galactosemia: exploring the bases of an apparent contradiction in the literature.

Fridovich-Keil JL, Carlock G, Coles CD, Lynch ME, Millians MN, Potter NL, Powell K, Richards P, Singh R, Wittenauer A. Fridovich-Keil JL, et al. Among authors: wittenauer a. Genet Med. 2019 Dec;21(12):2683-2685. doi: 10.1038/s41436-019-0567-1. Epub 2019 Jun 4. Genet Med. 2019. PMID: 31160755 Free article. No abstract available.

6

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.

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

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.

9

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

10

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

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