Conway RL - Search Results

1

Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25 years.

Jay AM, Conway RL, Feldman GL, Nahhas F, Spencer L, Wolf B. Jay AM, et al. Among authors: conway rl. Genet Med. 2015 Mar;17(3):205-9. doi: 10.1038/gim.2014.104. Epub 2014 Aug 21. Genet Med. 2015. PMID: 25144890 Free article.

2

Novel mutations causing biotinidase deficiency in individuals identified by newborn screening in Michigan including an unique intronic mutation that alters mRNA expression of the biotinidase gene.

Li H, Spencer L, Nahhas F, Miller J, Fribley A, Feldman G, Conway R, Wolf B. Li H, et al. Mol Genet Metab. 2014 Jul;112(3):242-6. doi: 10.1016/j.ymgme.2014.04.002. Epub 2014 Apr 16. Mol Genet Metab. 2014. PMID: 24797656

3

Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A.

Jay AM, Conway RL, Thiffault I, Saunders C, Farrow E, Adams J, Toriello HV. Jay AM, et al. Among authors: conway rl. Am J Med Genet A. 2016 Dec;170(12):3343-3346. doi: 10.1002/ajmg.a.37960. Epub 2016 Sep 9. Am J Med Genet A. 2016. PMID: 27612211

4

Transcobalamin receptor deficiency in seven asymptomatic patients ascertained through newborn screening.

Pappas KB, Younan M, Conway R. Pappas KB, et al. Am J Med Genet A. 2022 Apr;188(4):1102-1108. doi: 10.1002/ajmg.a.62623. Epub 2022 Jan 3. Am J Med Genet A. 2022. PMID: 34978764

5

A cautionary tale of pyridoxine toxicity in cystathionine beta-synthase deficiency detected by two-tier newborn screening highlights the need for clear pyridoxine dosing guidelines.

Ames EG, Scott AJ, Pappas KB, Moloney SM, Conway RL, Ahmad A. Ames EG, et al. Among authors: conway rl. Am J Med Genet A. 2020 Nov;182(11):2704-2708. doi: 10.1002/ajmg.a.61815. Epub 2020 Aug 20. Am J Med Genet A. 2020. PMID: 32820583 Free article.

6

Methionine adenosyltransferase I/III deficiency: Long-term follow-up and treatment of 3 adult siblings.

Bannick A, Chase S, Miner A, Seeterlin M, Conway RL. Bannick A, et al. Among authors: conway rl. Eur J Med Genet. 2020 Dec;63(12):104076. doi: 10.1016/j.ejmg.2020.104076. Epub 2020 Sep 24. Eur J Med Genet. 2020. PMID: 32980525

7

Mild Persistent Isolated Hypermethioninemia Identified through Newborn Screening in Michigan.

Sen K, Felice MD, Bannick A, Colombo R, Conway RL. Sen K, et al. Among authors: conway rl. J Pediatr Genet. 2019 Jun;8(2):54-57. doi: 10.1055/s-0039-1683900. Epub 2019 Mar 27. J Pediatr Genet. 2019. PMID: 31061746 Free PMC article.

8

Bortezomib in the rapid reduction of high sustained antibody titers in disorders treated with therapeutic protein: lessons learned from Pompe disease.

Banugaria SG, Prater SN, McGann JK, Feldman JD, Tannenbaum JA, Bailey C, Gera R, Conway RL, Viskochil D, Kobori JA, Rosenberg AS, Kishnani PS. Banugaria SG, et al. Among authors: conway rl. Genet Med. 2013 Feb;15(2):123-31. doi: 10.1038/gim.2012.110. Epub 2012 Oct 11. Genet Med. 2013. PMID: 23060045 Free PMC article.

9

Genetic and functional studies reveal a novel noncoding variant in GALT associated with a false positive newborn screening result for galactosemia.

Liu Y, Sidhu A, Bean LH, Conway RL, Fridovich-Keil JL. Liu Y, et al. Among authors: conway rl. Clin Chim Acta. 2015 Jun 15;446:171-4. doi: 10.1016/j.cca.2015.04.030. Epub 2015 Apr 25. Clin Chim Acta. 2015. PMID: 25920691 Free PMC article.

10

Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening.

Ahrens-Nicklas RC, Ganetzky RD, Rush PW, Conway RL, Ficicioglu C. Ahrens-Nicklas RC, et al. Among authors: conway rl. J Inherit Metab Dis. 2019 Jan;42(1):140-146. doi: 10.1002/jimd.12035. J Inherit Metab Dis. 2019. PMID: 30740726 Free PMC article.

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