Arnold G - Search Results

1

Functional methionine synthase deficiency due to cblG disorder: a report of two patients and a review.

Harding CO, Arnold G, Barness LA, Wolff JA, Rosenblatt DS. Harding CO, et al. Among authors: arnold g. Am J Med Genet. 1997 Sep 5;71(4):384-90. doi: 10.1002/(sici)1096-8628(19970905)71:4<384::aid-ajmg3>3.0.co;2-u. Am J Med Genet. 1997. PMID: 9286442 Review.

2

A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency.

Arnold GL, Koeberl DD, Matern D, Barshop B, Braverman N, Burton B, Cederbaum S, Fiegenbaum A, Garganta C, Gibson J, Goodman SI, Harding C, Kahler S, Kronn D, Longo N. Arnold GL, et al. Mol Genet Metab. 2008 Apr;93(4):363-70. doi: 10.1016/j.ymgme.2007.11.002. Epub 2007 Dec 21. Mol Genet Metab. 2008. PMID: 18155630

3

A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency.

Arnold GL, Van Hove J, Freedenberg D, Strauss A, Longo N, Burton B, Garganta C, Ficicioglu C, Cederbaum S, Harding C, Boles RG, Matern D, Chakraborty P, Feigenbaum A. Arnold GL, et al. Mol Genet Metab. 2009 Mar;96(3):85-90. doi: 10.1016/j.ymgme.2008.09.008. Epub 2009 Jan 20. Mol Genet Metab. 2009. PMID: 19157942 Free PMC article.

4

Trisomy 9: review and report of two new cases.

Arnold GL, Kirby RS, Stern TP, Sawyer JR. Arnold GL, et al. Am J Med Genet. 1995 Apr 10;56(3):252-7. doi: 10.1002/ajmg.1320560303. Am J Med Genet. 1995. PMID: 7778584 Review.

5

Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening.

Arnold GL, Salazar D, Neidich JA, Suwannarat P, Graham BH, Lichter-Konecki U, Bosch AM, Cusmano-Ozog K, Enns G, Wright EL, Lanpher BC, Owen NN, Lipson MH, Cerone R, Levy P, Wong LJ, Dezsofi A. Arnold GL, et al. Mol Genet Metab. 2012 Aug;106(4):439-41. doi: 10.1016/j.ymgme.2012.04.006. Epub 2012 Apr 20. Mol Genet Metab. 2012. PMID: 22658692

6

Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System.

Forsyth R, Vockley CW, Edick MJ, Cameron CA, Hiner SJ, Berry SA, Vockley J, Arnold GL; Inborn Errors of Metabolism Collaborative. Forsyth R, et al. Mol Genet Metab. 2016 May;118(1):15-20. doi: 10.1016/j.ymgme.2016.02.002. Epub 2016 Feb 15. Mol Genet Metab. 2016. PMID: 27033733 Free PMC article.

7

Molybdenum cofactor deficiency.

Arnold GL, Greene CL, Stout JP, Goodman SI. Arnold GL, et al. J Pediatr. 1993 Oct;123(4):595-8. doi: 10.1016/s0022-3476(05)80961-8. J Pediatr. 1993. PMID: 8410516

8

Four children with postnatally diagnosed mosaic trisomy 12: Clinical features, literature review, and current diagnostic capabilities of genetic testing.

Hu J, Ou Z, Surti U, Kochmar S, Hoffner L, Madan-Khetarpal S, Arnold GL, Walsh L, Acquaro R, Sebastian J, Yatsenko SA. Hu J, et al. Am J Med Genet A. 2020 Apr;182(4):813-822. doi: 10.1002/ajmg.a.61482. Epub 2020 Jan 8. Am J Med Genet A. 2020. PMID: 31913574 Review.

9

Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State.

Arnold GL, Saavedra-Matiz CA, Galvin-Parton PA, Erbe R, Devincentis E, Kronn D, Mofidi S, Wasserstein M, Pellegrino JE, Levy PA, Adams DJ, Nichols M, Caggana M. Arnold GL, et al. Mol Genet Metab. 2010 Mar;99(3):263-8. doi: 10.1016/j.ymgme.2009.10.188. Epub 2009 Nov 1. Mol Genet Metab. 2010. PMID: 20036593

10

Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State.

Wasserstein MP, Andriola M, Arnold G, Aron A, Duffner P, Erbe RW, Escolar ML, Estrella L, Galvin-Parton P, Iglesias A, Kay DM, Kronn DF, Kurtzberg J, Kwon JM, Langan TJ, Levy PA, Naidich TP, Orsini JJ, Pellegrino JE, Provenzale JM, Wenger DA, Caggana M. Wasserstein MP, et al. Among authors: arnold g. Genet Med. 2016 Dec;18(12):1235-1243. doi: 10.1038/gim.2016.35. Epub 2016 May 12. Genet Med. 2016. PMID: 27171547 Free article.

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