Conway RL - Search Results

1

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

2

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.

3

Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disorders.

Longo N, Diaz GA, Lichter-Konecki U, Schulze A, Inbar-Feigenberg M, Conway RL, Bannick AA, McCandless SE, Zori R, Hainline B, Ah Mew N, Canavan C, Vescio T, Kok T, Porter MH, Berry SA. Longo N, et al. Among authors: conway rl. Mol Genet Metab. 2021 Jan;132(1):19-26. doi: 10.1016/j.ymgme.2020.12.002. Epub 2020 Dec 23. Mol Genet Metab. 2021. PMID: 33388234 Free PMC article.

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

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.

6

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.

7

Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders.

Vockley J, Charrow J, Ganesh J, Eswara M, Diaz GA, McCracken E, Conway R, Enns GM, Starr J, Wang R, Abdenur JE, Sanchez-de-Toledo J, Marsden DL. Vockley J, et al. Mol Genet Metab. 2016 Nov;119(3):223-231. doi: 10.1016/j.ymgme.2016.08.008. Epub 2016 Aug 27. Mol Genet Metab. 2016. PMID: 27590926 Free PMC article.

8

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

9

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

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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