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1.

Improved attention linked to sustained phenylalanine reduction in adults with early-treated phenylketonuria.

Bilder, Deborah A; Arnold, Georgianne L; Dimmock, David; Grant, Mitzie L; Janzen, Darren; Longo, Nicola; Nguyen-Driver, Mina; Jurecki, Elaina; Merilainen, Markus; Amato, Gianni; Waisbren, Susan.

Am J Med Genet A ; 188(3): 768-778, 2022 03.

Artículo en Inglés | MEDLINE | ID: mdl-34826353

2.

Successful orthotopic heart transplantation in CPTII deficiency.

Arnold, Georgianne L; Yester, Jessie; McCracken, Elizabeth; Feingold, Brian D; Vockley, Jerry.

Mol Genet Metab ; 133(2): 182-184, 2021 06.

Artículo en Inglés | MEDLINE | ID: mdl-34020866

3.

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

Hu, Jie; Ou, Zhishuo; Surti, Urvashi; Kochmar, Sally; Hoffner, Lori; Madan-Khetarpal, Suneeta; Arnold, Georgianne L; Walsh, Leslie; Acquaro, Roxanne; Sebastian, Jessica; Yatsenko, Svetlana A.

Am J Med Genet A ; 182(4): 813-822, 2020 04.

Artículo en Inglés | MEDLINE | ID: mdl-31913574

4.

PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.

Johnstone, Devon L; Al-Shekaili, Hilal H; Tarailo-Graovac, Maja; Wolf, Nicole I; Ivy, Autumn S; Demarest, Scott; Roussel, Yann; Ciapaite, Jolita; van Roermund, Carlo W T; Kernohan, Kristin D; Kosuta, Ceres; Ban, Kevin; Ito, Yoko; McBride, Skye; Al-Thihli, Khalid; Abdelrahim, Rana A; Koul, Roshan; Al Futaisi, Amna; Haaxma, Charlotte A; Olson, Heather; Sigurdardottir, Laufey Yr; Arnold, Georgianne L; Gerkes, Erica H; Boon, M; Heiner-Fokkema, M Rebecca; Noble, Sandra; Bosma, Marjolein; Jans, Judith; Koolen, David A; Kamsteeg, Erik-Jan; Drögemöller, Britt; Ross, Colin J; Majewski, Jacek; Cho, Megan T; Begtrup, Amber; Wasserman, Wyeth W; Bui, Tuan; Brimble, Elise; Violante, Sara; Houten, Sander M; Wevers, Ron A; van Faassen, Martijn; Kema, Ido P; Lepage, Nathalie; Lines, Matthew A; Dyment, David A; Wanders, Ronald J A; Verhoeven-Duif, Nanda; Ekker, Marc; Boycott, Kym M.

Brain ; 142(3): 542-559, 2019 03 01.

Artículo en Inglés | MEDLINE | ID: mdl-30668673

5.

Complex patterns of inheritance, including synergistic heterozygosity, in inborn errors of metabolism: Implications for precision medicine driven diagnosis and treatment.

Vockley, Jerry; Dobrowolski, Steven F; Arnold, Georgianne L; Guerrero, Ruben Bonilla; Derks, Terry G J; Weinstein, David A.

Mol Genet Metab ; 128(1-2): 1-9, 2019.

Artículo en Inglés | MEDLINE | ID: mdl-31358473

6.

Newborn screening for Krabbe disease in New York State: the first eight years' experience.

Orsini, Joseph J; Kay, Denise M; Saavedra-Matiz, Carlos A; Wenger, David A; Duffner, Patricia K; Erbe, Richard W; Biski, Chad; Martin, Monica; Krein, Lea M; Nichols, Matthew; Kurtzberg, Joanne; Escolar, Maria L; Adams, Darius J; Arnold, Georgianne L; Iglesias, Alejandro; Galvin-Parton, Patricia; Kronn, David F; Kwon, Jennifer M; Levy, Paul A; Pellegrino, Joan E; Shur, Natasha; Wasserstein, Melissa P; Caggana, Michele.

Genet Med ; 18(3): 239-48, 2016 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-26795590

7.

Metabolic providers in crisis - Burning out on the road to burnout?

Arnold, Georgianne L; Kanungo, Shibani; Bush, Lynn.

Mol Genet Metab ; 134(4): 285-286, 2021 12.

Artículo en Inglés | MEDLINE | ID: mdl-34810068

8.

221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.

Bentler, Kristi; Zhai, Shaohui; Elsbecker, Sara A; Arnold, Georgianne L; Burton, Barbara K; Vockley, Jerry; Cameron, Cynthia A; Hiner, Sally J; Edick, Mathew J; Berry, Susan A.

Mol Genet Metab ; 119(1-2): 75-82, 2016 09.

Artículo en Inglés | MEDLINE | ID: mdl-27477829

9.

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

Forsyth, RaeLynn; Vockley, Catherine Walsh; Edick, Mathew J; Cameron, Cynthia A; Hiner, Sally J; Berry, Susan A; Vockley, Jerry; Arnold, Georgianne L.

Mol Genet Metab ; 118(1): 15-20, 2016 May.

Artículo en Inglés | MEDLINE | ID: mdl-27033733

10.

Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.

Pena, Loren D M; van Calcar, Sandra C; Hansen, Joyanna; Edick, Mathew J; Walsh Vockley, Cate; Leslie, Nancy; Cameron, Cynthia; Mohsen, Al-Walid; Berry, Susan A; Arnold, Georgianne L; Vockley, Jerry.

Mol Genet Metab ; 118(4): 272-81, 2016 08.

Artículo en Inglés | MEDLINE | ID: mdl-27209629

11.

Long-term safety and efficacy of sapropterin: the PKUDOS registry experience.

Longo, Nicola; Arnold, Georgianne L; Pridjian, Gabriella; Enns, Gregory M; Ficicioglu, Can; Parker, Susan; Cohen-Pfeffer, Jessica L.

Mol Genet Metab ; 114(4): 557-63, 2015 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-25724073

12.

Development of clinical guidelines for inborn errors of metabolism: commentary.

Vockley, Jerry; Chapman, Kimberly A; Arnold, Georgianne L.

Mol Genet Metab ; 108(4): 203-5, 2013 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-23428739

13.

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

Arnold, Georgianne L; Salazar, Denise; Neidich, Julie A; Suwannarat, Pim; Graham, Brett H; Lichter-Konecki, Uta; Bosch, Annet M; Cusmano-Ozog, Kristina; Enns, Greg; Wright, Erica L; Lanpher, Brendan C; Owen, Natalie N; Lipson, Mark H; Cerone, Roberto; Levy, Paul; Wong, Lee-Jun C; Dezsofi, Antal.

Mol Genet Metab ; 106(4): 439-41, 2012 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-22658692

14.

Internet use by parents of infants with positive newborn screens.

DeLuca, Jane M; Kearney, Margaret H; Norton, Sally A; Arnold, Georgianne L.

J Inherit Metab Dis ; 35(5): 879-84, 2012 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-22297410

15.

Outcomes and genotype correlations in patients with mitochondrial trifunctional protein or isolated long chain 3-hydroxyacyl-CoA dehydrogenase deficiency enrolled in the IBEM-IS database.

Lim, Chelsey Chaehee; Vockley, Jerry; Ujah, Otobo; Kirby, Russell S; Edick, Mathew J; Berry, Susan A; Arnold, Georgianne L.

Mol Genet Metab Rep ; 32: 100884, 2022 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-35677112

16.

Thoroughly modern medicine.

Arnold, Georgianne L; Vockley, Jerry.

Mol Genet Metab ; 104(1-2): 1-2, 2011.

Artículo en Inglés | MEDLINE | ID: mdl-21807540

17.

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

Arnold, Georgianne L; Saavedra-Matiz, Carlos A; Galvin-Parton, Patricia A; Erbe, Richard; Devincentis, Ellen; Kronn, David; Mofidi, Shideh; Wasserstein, Melissa; Pellegrino, Joan E; Levy, Paul A; Adams, Darius J; Nichols, Matthew; Caggana, Michele.

Mol Genet Metab ; 99(3): 263-8, 2010 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-20036593

18.

Similarities and differences in key diagnosis, treatment, and management approaches for PAH deficiency in the United States and Europe.

Lowe, Tracy Brock; DeLuca, Jane; Arnold, Georgianne L.

Orphanet J Rare Dis ; 15(1): 266, 2020 09 25.

Artículo en Inglés | MEDLINE | ID: mdl-32977849

19.

Familial Cerebral Cavernous Malformation Syndrome with Concomitant Fourth Ventricular Ependymoma: True Association or Mere Coincidence?

Algattas, Hanna; Abou-Al-Shaar, Hussam; Mendelson, Michael; Arnold, Georgianne L; Felker, James; Meade, Julia; Greene, Stephanie.

Cancer Genet ; 244: 36-39, 2020 06.

Artículo en Inglés | MEDLINE | ID: mdl-32434131

20.

Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease.

Nicolino, Marc; Byrne, Barry; Wraith, J Edmund; Leslie, Nancy; Mandel, Hanna; Freyer, David R; Arnold, Georgianne L; Pivnick, Eniko K; Ottinger, C J; Robinson, Peter H; Loo, John-Charles A; Smitka, Martin; Jardine, Philip; Tatò, Luciano; Chabrol, Brigitte; McCandless, Shawn; Kimura, Shigemi; Mehta, L; Bali, Deeksha; Skrinar, Alison; Morgan, Claire; Rangachari, Lakshmi; Corzo, Deya; Kishnani, Priya S.

Genet Med ; 11(3): 210-9, 2009 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-19287243

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