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Items: 1 to 50 of 64

1.

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

Vockley J, Dobrowolski SF, Arnold GL, Guerrero RB, Derks TGJ, Weinstein DA.

Mol Genet Metab. 2019 Sep - Oct;128(1-2):1-9. doi: 10.1016/j.ymgme.2019.07.011. Epub 2019 Jul 19.

PMID:
31358473
2.

Amino acid disorders.

Aliu E, Kanungo S, Arnold GL.

Ann Transl Med. 2018 Dec;6(24):471. doi: 10.21037/atm.2018.12.12. Review.

3.

Inborn errors of metabolism in the 21st century: past to present.

Arnold GL.

Ann Transl Med. 2018 Dec;6(24):467. doi: 10.21037/atm.2018.11.36. Review.

4.

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

Johnstone DL, Al-Shekaili HH, Tarailo-Graovac M, Wolf NI, Ivy AS, Demarest S, Roussel Y, Ciapaite J, van Roermund CWT, Kernohan KD, Kosuta C, Ban K, Ito Y, McBride S, Al-Thihli K, Abdelrahim RA, Koul R, Al Futaisi A, Haaxma CA, Olson H, Sigurdardottir LY, Arnold GL, Gerkes EH, Boon M, Heiner-Fokkema MR, Noble S, Bosma M, Jans J, Koolen DA, Kamsteeg EJ, Drögemöller B, Ross CJ, Majewski J, Cho MT, Begtrup A, Wasserman WW, Bui T, Brimble E, Violante S, Houten SM, Wevers RA, van Faassen M, Kema IP, Lepage N; Care4Rare Canada Consortium, Lines MA, Dyment DA, Wanders RJA, Verhoeven-Duif N, Ekker M, Boycott KM, Friedman JM, Pena IA, van Karnebeek CDM.

Brain. 2019 Mar 1;142(3):542-559. doi: 10.1093/brain/awy346.

PMID:
30668673
5.

Deep-biosphere methane production stimulated by geofluids in the Nankai accretionary complex.

Ijiri A, Inagaki F, Kubo Y, Adhikari RR, Hattori S, Hoshino T, Imachi H, Kawagucci S, Morono Y, Ohtomo Y, Ono S, Sakai S, Takai K, Toki T, Wang DT, Yoshinaga MY, Arnold GL, Ashi J, Case DH, Feseker T, Hinrichs KU, Ikegawa Y, Ikehara M, Kallmeyer J, Kumagai H, Lever MA, Morita S, Nakamura KI, Nakamura Y, Nishizawa M, Orphan VJ, Røy H, Schmidt F, Tani A, Tanikawa W, Terada T, Tomaru H, Tsuji T, Tsunogai U, Yamaguchi YT, Yoshida N.

Sci Adv. 2018 Jun 13;4(6):eaao4631. doi: 10.1126/sciadv.aao4631. eCollection 2018 Jun.

6.

Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

Wang X, Charng WL, Chen CA, Rosenfeld JA, Al Shamsi A, Al-Gazali L, McGuire M, Mew NA, Arnold GL, Qu C, Ding Y, Muzny DM, Gibbs RA, Eng CM, Walkiewicz M, Xia F, Plon SE, Lupski JR, Schaaf CP, Yang Y.

Nat Genet. 2017 Apr;49(4):613-617. doi: 10.1038/ng.3815. Epub 2017 Mar 13.

7.

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

Bentler K, Zhai S, Elsbecker SA, Arnold GL, Burton BK, Vockley J, Cameron CA, Hiner SJ, Edick MJ, Berry SA; Inborn Errors of Metabolism Collaborative.

Mol Genet Metab. 2016 Sep;119(1-2):75-82. doi: 10.1016/j.ymgme.2016.07.002. Epub 2016 Jul 15.

8.

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

Pena LD, van Calcar SC, Hansen J, Edick MJ, Walsh Vockley C, Leslie N, Cameron C, Mohsen AW, Berry SA, Arnold GL, Vockley J; IBEMC.

Mol Genet Metab. 2016 Aug;118(4):272-81. doi: 10.1016/j.ymgme.2016.05.007. Epub 2016 May 13.

9.

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

Lemke JR, Geider K, Helbig KL, Heyne HO, Schütz H, Hentschel J, Courage C, Depienne C, Nava C, Heron D, Møller RS, Hjalgrim H, Lal D, Neubauer BA, Nürnberg P, Thiele H, Kurlemann G, Arnold GL, Bhambhani V, Bartholdi D, Pedurupillay CR, Misceo D, Frengen E, Strømme P, Dlugos DJ, Doherty ES, Bijlsma EK, Ruivenkamp CA, Hoffer MJ, Goldstein A, Rajan DS, Narayanan V, Ramsey K, Belnap N, Schrauwen I, Richholt R, Koeleman BP, Sá J, Mendonça C, de Kovel CG, Weckhuysen S, Hardies K, De Jonghe P, De Meirleir L, Milh M, Badens C, Lebrun M, Busa T, Francannet C, Piton A, Riesch E, Biskup S, Vogt H, Dorn T, Helbig I, Michaud JL, Laube B, Syrbe S.

Neurology. 2016 Jun 7;86(23):2171-8. doi: 10.1212/WNL.0000000000002740. Epub 2016 May 6.

10.

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.

Mol Genet Metab. 2016 May;118(1):15-20. doi: 10.1016/j.ymgme.2016.02.002. Epub 2016 Feb 15.

11.

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

Orsini JJ, Kay DM, Saavedra-Matiz CA, Wenger DA, Duffner PK, Erbe RW, Biski C, Martin M, Krein LM, Nichols M, Kurtzberg J, Escolar ML, Adams DJ, Arnold GL, Iglesias A, Galvin-Parton P, Kronn DF, Kwon JM, Levy PA, Pellegrino JE, Shur N, Wasserstein MP, Caggana M; New York State Krabbe Disease Consortium.

Genet Med. 2016 Mar;18(3):239-48. doi: 10.1038/gim.2015.211. Epub 2016 Jan 21.

PMID:
26795590
12.

Isolated Sagittal Synostosis in a Boy with Craniofrontonasal Dysplasia and a Novel EFNB1 Mutation.

Chauhan BK, Hoover JM, Scanga H, Medsinge A, Arnold GL, Nischal KK.

Plast Reconstr Surg Glob Open. 2015 Jul 8;3(6):e427. doi: 10.1097/GOX.0000000000000369. eCollection 2015 Jun.

13.

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

Longo N, Arnold GL, Pridjian G, Enns GM, Ficicioglu C, Parker S, Cohen-Pfeffer JL; Phenylketonuria Demographics, Outcomes and Safety Registry.

Mol Genet Metab. 2015 Apr;114(4):557-63. doi: 10.1016/j.ymgme.2015.02.003. Epub 2015 Feb 16.

14.

Modern applications for a total sulfur reduction distillation method - what's old is new again.

Arnold GL, Brunner B, Müller IA, Røy H.

Geochem Trans. 2014 Apr 22;15:4. doi: 10.1186/1467-4866-15-4. eCollection 2014.

15.

Introduction: Neurodevelopmental issues in inborn errors of metabolism.

Arnold GL, Vockley J.

Dev Disabil Res Rev. 2013;17(3):185-6. doi: 10.1002/ddrr.1121. No abstract available.

PMID:
23798007
16.

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

Vockley J, Chapman KA, Arnold GL.

Mol Genet Metab. 2013 Apr;108(4):203-5. doi: 10.1016/j.ymgme.2013.01.013. Epub 2013 Jan 30.

PMID:
23428739
17.

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.

Mol Genet Metab. 2012 Aug;106(4):439-41. doi: 10.1016/j.ymgme.2012.04.006. Epub 2012 Apr 20.

PMID:
22658692
18.

Internet use by parents of infants with positive newborn screens.

DeLuca JM, Kearney MH, Norton SA, Arnold GL.

J Inherit Metab Dis. 2012 Sep;35(5):879-84. Epub 2012 Feb 2.

PMID:
22297410
19.

The reversibility of dissimilatory sulphate reduction and the cell-internal multi-step reduction of sulphite to sulphide: insights from the oxygen isotope composition of sulphate.

Brunner B, Einsiedl F, Arnold GL, Müller I, Templer S, Bernasconi SM.

Isotopes Environ Health Stud. 2012;48(1):33-54. doi: 10.1080/10256016.2011.608128. Epub 2011 Nov 30.

PMID:
22128782
20.

Thoroughly modern medicine.

Arnold GL, Vockley J.

Mol Genet Metab. 2011 Sep-Oct;104(1-2):1-2. doi: 10.1016/j.ymgme.2011.07.011. Epub 2011 Jul 20.

PMID:
21807540
21.

Parents' experiences of expanded newborn screening evaluations.

DeLuca JM, Kearney MH, Norton SA, Arnold GL.

Pediatrics. 2011 Jul;128(1):53-61. doi: 10.1542/peds.2010-3413. Epub 2011 Jun 27.

PMID:
21708804
22.

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.

Mol Genet Metab. 2010 Mar;99(3):263-8. doi: 10.1016/j.ymgme.2009.10.188. Epub 2009 Nov 1.

PMID:
20036593
23.

Newborn screening for Krabbe disease: the New York State model.

Duffner PK, Caggana M, Orsini JJ, Wenger DA, Patterson MC, Crosley CJ, Kurtzberg J, Arnold GL, Escolar ML, Adams DJ, Andriola MR, Aron AM, Ciafaloni E, Djukic A, Erbe RW, Galvin-Parton P, Helton LE, Kolodny EH, Kosofsky BE, Kronn DF, Kwon JM, Levy PA, Miller-Horn J, Naidich TP, Pellegrino JE, Provenzale JM, Rothman SJ, Wasserstein MP.

Pediatr Neurol. 2009 Apr;40(4):245-52; discussion 253-5. doi: 10.1016/j.pediatrneurol.2008.11.010.

PMID:
19302934
24.

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

Nicolino M, Byrne B, Wraith JE, Leslie N, Mandel H, Freyer DR, Arnold GL, Pivnick EK, Ottinger CJ, Robinson PH, Loo JC, Smitka M, Jardine P, Tatò L, Chabrol B, McCandless S, Kimura S, Mehta L, Bali D, Skrinar A, Morgan C, Rangachari L, Corzo D, Kishnani PS.

Genet Med. 2009 Mar;11(3):210-9. doi: 10.1097/GIM.0b013e31819d0996.

PMID:
19287243
25.

Late onset optic neuropathy in methylmalonic and propionic acidemia.

Williams ZR, Hurley PE, Altiparmak UE, Feldon SE, Arnold GL, Eggenberger E, Mejico LJ.

Am J Ophthalmol. 2009 May;147(5):929-33. doi: 10.1016/j.ajo.2008.12.024. Epub 2009 Feb 25.

PMID:
19243738
26.

Isotopic evidence for an aerobic nitrogen cycle in the latest Archean.

Garvin J, Buick R, Anbar AD, Arnold GL, Kaufman AJ.

Science. 2009 Feb 20;323(5917):1045-8. doi: 10.1126/science.1165675.

27.

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.

Mol Genet Metab. 2009 Mar;96(3):85-90. doi: 10.1016/j.ymgme.2008.09.008. Epub 2009 Jan 20.

28.

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.

Brunetti-Pierri N, Berg JS, Scaglia F, Belmont J, Bacino CA, Sahoo T, Lalani SR, Graham B, Lee B, Shinawi M, Shen J, Kang SH, Pursley A, Lotze T, Kennedy G, Lansky-Shafer S, Weaver C, Roeder ER, Grebe TA, Arnold GL, Hutchison T, Reimschisel T, Amato S, Geragthy MT, Innis JW, Obersztyn E, Nowakowska B, Rosengren SS, Bader PI, Grange DK, Naqvi S, Garnica AD, Bernes SM, Fong CT, Summers A, Walters WD, Lupski JR, Stankiewicz P, Cheung SW, Patel A.

Nat Genet. 2008 Dec;40(12):1466-71. doi: 10.1038/ng.279.

29.

Universal nephroblastomatosis with bilateral hyperplastic nephromegaly in siblings.

Katzman PJ, Arnold GL, Lagoe EC, Huff V.

Pediatr Dev Pathol. 2009 Jan-Feb;12(1):47-52. doi: 10.2350/07-11-0380.1. Epub 2008 Feb 14.

PMID:
18275253
30.

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.

Mol Genet Metab. 2008 Apr;93(4):363-70. Epub 2007 Dec 21.

PMID:
18155630
31.

A whiff of oxygen before the great oxidation event?

Anbar AD, Duan Y, Lyons TW, Arnold GL, Kendall B, Creaser RA, Kaufman AJ, Gordon GW, Scott C, Garvin J, Buick R.

Science. 2007 Sep 28;317(5846):1903-6.

32.

Late Archean biospheric oxygenation and atmospheric evolution.

Kaufman AJ, Johnston DT, Farquhar J, Masterson AL, Lyons TW, Bates S, Anbar AD, Arnold GL, Garvin J, Buick R.

Science. 2007 Sep 28;317(5846):1900-3.

33.

Prevalence of stimulant use for attentional dysfunction in children with phenylketonuria.

Arnold GL, Vladutiu CJ, Orlowski CC, Blakely EM, DeLuca J.

J Inherit Metab Dis. 2004;27(2):137-43.

PMID:
15159644
34.

Molybdenum isotope evidence for widespread anoxia in mid-Proterozoic oceans.

Arnold GL, Anbar AD, Barling J, Lyons TW.

Science. 2004 Apr 2;304(5667):87-90. Epub 2004 Mar 4.

35.

Fe isotope variations in natural materials measured using high mass resolution multiple collector ICPMS.

Arnold GL, Weyer S, Anbar AD.

Anal Chem. 2004 Jan 15;76(2):322-7.

PMID:
14719878
36.

Improved growth and nutrition status in children with methylmalonic or propionic acidemia fed an elemental medical food.

Yannicelli S, Acosta PB, Velazquez A, Bock HG, Marriage B, Kurczynski TW, Miller M, Korson M, Steiner RD, Rutledge L, Bernstein L, Chinsky J, Galvin-Parton P, Arnold GL.

Mol Genet Metab. 2003 Sep-Oct;80(1-2):181-8.

PMID:
14567967
37.

Plasma amino acids profiles in children with autism: potential risk of nutritional deficiencies.

Arnold GL, Hyman SL, Mooney RA, Kirby RS.

J Autism Dev Disord. 2003 Aug;33(4):449-54.

PMID:
12959424
38.

Gaucher's disease: identification of novel mutant alleles and genotype-phenotype relationships.

Zhao H, Keddache M, Bailey L, Arnold G, Grabowski G.

Clin Genet. 2003 Jul;64(1):57-64.

PMID:
12791040
40.

Sumatriptan-associated ischemic colitis.

Naik M, Potluri R, Almasri E, Arnold GL.

Dig Dis Sci. 2002 Sep;47(9):2015-6. No abstract available.

PMID:
12353847
41.

Barrett's esophagus-associated polypoid dysplasia: a case report and review of the literature.

Arnold GL, Mardini HE.

Dig Dis Sci. 2002 Aug;47(8):1897-900. Review. No abstract available.

PMID:
12184548
42.

Protein insufficiency and linear growth restriction in phenylketonuria.

Arnold GL, Vladutiu CJ, Kirby RS, Blakely EM, Deluca JM.

J Pediatr. 2002 Aug;141(2):243-6.

PMID:
12183721
43.

Preliminary study of ciprofloxacin in active Crohn's disease.

Arnold GL, Beaves MR, Pryjdun VO, Mook WJ.

Inflamm Bowel Dis. 2002 Jan;8(1):10-5.

PMID:
11837933
44.

Pyruvate carboxylase deficiency. Report of a case and additional evidence for the "mild" phenotype.

Arnold GL, Griebel ML, Porterfield M, Brewster M.

Clin Pediatr (Phila). 2001 Sep;40(9):519-21. No abstract available.

PMID:
11583052
45.

Iron and protein sufficiency and red cell indices in phenylketonuria.

Arnold GL, Kirby R, Preston C, Blakely E.

J Am Coll Nutr. 2001 Feb;20(1):65-70.

PMID:
11293470
46.

Malrotation in conjunction with esophageal atresia/tracheo-esophageal fistula.

Cieri MV, Arnold GL, Torfs CP.

Teratology. 1999 Sep;60(3):114-6.

PMID:
10471893
47.

Hypoketotic hypoglycemic coma in a 21-month-old child.

Hostetler MA, Arnold GL, Mooney R, Bennett MJ, Rinaldo P, Roe CR.

Ann Emerg Med. 1999 Sep;34(3):394-8.

PMID:
10459098
48.

Factors affecting cognitive, motor, behavioral and executive functioning in children with phenylketonuria.

Arnold GL, Kramer BM, Kirby RS, Plumeau PB, Blakely EM, Sanger Cregan LS, Davidson PW.

Acta Paediatr. 1998 May;87(5):565-70.

PMID:
9641741
49.

Reconversion of bone marrow in Gaucher disease treated with enzyme therapy documented by MR.

Allison JW, James CA, Arnold GL, Stine KC, Becton DL, Bell JM.

Pediatr Radiol. 1998 Apr;28(4):237-40.

PMID:
9545478
50.

Dextromethorphan in nonketotic hyperglycinaemia: metabolic variation confounds the dose-response relationship.

Arnold GL, Griebel ML, Valentine JL, Koroma DM, Kearns GL.

J Inherit Metab Dis. 1997 Mar;20(1):28-38.

PMID:
9061564

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