Rice G - Search Results

1

Biotinidase deficiency is a rare, potentially treatable cause of peripheral neuropathy with or without optic neuropathy in adults.

Kellom E, Stepien K, Rice G, Wolf B. Kellom E, et al. Among authors: rice g. Mol Genet Metab Rep. 2020 Dec 15;26:100696. doi: 10.1016/j.ymgmr.2020.100696. eCollection 2021 Mar. Mol Genet Metab Rep. 2020. PMID: 33364171 Free PMC article.

2

Reversal of Vision Loss in a 49-Year-Old Man With Progressive Optic Atrophy Due to Profound Biotinidase Deficiency.

Kellom ER, Wolf B, Rice GM, Stepien KE. Kellom ER, et al. J Neuroophthalmol. 2021 Mar 1;41(1):e27-e30. doi: 10.1097/WNO.0000000000000933. J Neuroophthalmol. 2021. PMID: 32235217 No abstract available.

3

Clinical relevance of the discrepancy in phenylalanine concentrations analyzed using tandem mass spectrometry compared with ion-exchange chromatography in phenylketonuria.

Stroup BM, Held PK, Williams P, Clayton MK, Murali SG, Rice GM, Ney DM. Stroup BM, et al. Among authors: rice gm. Mol Genet Metab Rep. 2016 Jan 16;6:21-6. doi: 10.1016/j.ymgmr.2016.01.001. eCollection 2016 Mar. Mol Genet Metab Rep. 2016. PMID: 27014575 Free PMC article.

4

Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin.

Van Calcar SC, Baker MW, Williams P, Jones SA, Xiong B, Thao MC, Lee S, Yang MK, Rice GM, Rhead W, Vockley J, Hoffman G, Durkin MS. Van Calcar SC, et al. Among authors: rice gm. Mol Genet Metab. 2013 Sep-Oct;110(1-2):111-5. doi: 10.1016/j.ymgme.2013.03.021. Epub 2013 Apr 15. Mol Genet Metab. 2013. PMID: 23712021 Free PMC article.

5

Successful pregnancy and delivery in a woman with propionic acidemia from the Amish community.

Scott Schwoerer J, van Calcar S, Rice GM, Deline J. Scott Schwoerer J, et al. Mol Genet Metab Rep. 2016 Jun 2;8:4-7. doi: 10.1016/j.ymgmr.2016.05.003. eCollection 2016 Sep. Mol Genet Metab Rep. 2016. PMID: 28649556 Free PMC article.

6

Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness.

George A, Zand DJ, Hufnagel RB, Sharma R, Sergeev YV, Legare JM, Rice GM, Scott Schwoerer JA, Rius M, Tetri L, Gamm DM, Bharti K, Brooks BP. George A, et al. Am J Hum Genet. 2016 Dec 1;99(6):1388-1394. doi: 10.1016/j.ajhg.2016.11.004. Epub 2016 Nov 23. Am J Hum Genet. 2016. PMID: 27889061 Free PMC article.

7

Improved clinical outcome following liver transplant in patients with ethylmalonic encephalopathy.

Tam A, AlDhaheri NS, Mysore K, Tessier ME, Goss J, Fernandez LA, D'Alessandro AM, Schwoerer JS, Rice GM, Elsea SH, Scaglia F. Tam A, et al. Am J Med Genet A. 2019 Jun;179(6):1015-1019. doi: 10.1002/ajmg.a.61104. Epub 2019 Mar 12. Am J Med Genet A. 2019. PMID: 30864297 Free PMC article.

8

Identification and functional analysis of an ADAMTSL1 variant associated with a complex phenotype including congenital glaucoma, craniofacial, and other systemic features in a three-generation human pedigree.

Hendee K, Wang LW, Reis LM, Rice GM, Apte SS, Semina EV. Hendee K, et al. Hum Mutat. 2017 Nov;38(11):1485-1490. doi: 10.1002/humu.23299. Epub 2017 Aug 1. Hum Mutat. 2017. PMID: 28722276 Free PMC article.

9

Glycomacropeptide for nutritional management of phenylketonuria: a randomized, controlled, crossover trial.

Ney DM, Stroup BM, Clayton MK, Murali SG, Rice GM, Rohr F, Levy HL. Ney DM, et al. Among authors: rice gm. Am J Clin Nutr. 2016 Aug;104(2):334-45. doi: 10.3945/ajcn.116.135293. Epub 2016 Jul 13. Am J Clin Nutr. 2016. PMID: 27413125 Free PMC article. Clinical Trial.

10

Nutritional management of PKU with glycomacropeptide from cheese whey.

Ney DM, Gleason ST, van Calcar SC, MacLeod EL, Nelson KL, Etzel MR, Rice GM, Wolff JA. Ney DM, et al. Among authors: rice gm. J Inherit Metab Dis. 2009 Feb;32(1):32-9. doi: 10.1007/s10545-008-0952-4. Epub 2008 Oct 29. J Inherit Metab Dis. 2009. PMID: 18956251 Free PMC article. Review.

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