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Items: 1 to 50 of 82

1.

Tricarboxylic acid cycle enzyme activities in a mouse model of methylmalonic aciduria.

Wongkittichote P, Cunningham G, Summar ML, Pumbo E, Forny P, Baumgartner MR, Chapman KA.

Mol Genet Metab. 2019 Dec;128(4):444-451. doi: 10.1016/j.ymgme.2019.10.007. Epub 2019 Oct 17.

2.

Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment.

Molema F, Gleich F, Burgard P, van der Ploeg AT, Summar ML, Chapman KA, Lund AM, Rizopoulos D, Kölker S, Williams M; Additional individual contributors from E-IMD.

Mol Genet Metab. 2019 Apr;126(4):397-405. doi: 10.1016/j.ymgme.2019.02.003. Epub 2019 Feb 25.

PMID:
30827756
3.

Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry.

Molema F, Gleich F, Burgard P, van der Ploeg AT, Summar ML, Chapman KA, Barić I, Lund AM, Kölker S, Williams M; Additional individual contributors from E-IMD.

J Inherit Metab Dis. 2019 Nov;42(6):1162-1175. doi: 10.1002/jimd.12066. Epub 2019 Feb 27.

PMID:
30734935
4.

Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data.

Chapman KA, Gramer G, Viall S, Summar ML.

Mol Genet Metab Rep. 2018 Apr 5;15:106-109. doi: 10.1016/j.ymgmr.2018.03.011. eCollection 2018 Jun.

5.

Inborn Errors of Metabolism with Hyperammonemia: Urea Cycle Defects and Related Disorders.

Summar ML, Mew NA.

Pediatr Clin North Am. 2018 Apr;65(2):231-246. doi: 10.1016/j.pcl.2017.11.004. Epub 2018 Feb 2. Review.

PMID:
29502911
6.

Prenatal treatment of ornithine transcarbamylase deficiency.

Wilnai Y, Blumenfeld YJ, Cusmano K, Hintz SR, Alcorn D, Benitz WE, Berquist WE, Bernstein JA, Castillo RO, Concepcion W, Cowan TM, Cox KL, Lyell DJ, Esquivel CO, Homeyer M, Hudgins L, Hurwitz M, Palma JP, Schelley S, Akula VP, Summar ML, Enns GM.

Mol Genet Metab. 2018 Mar;123(3):297-300. doi: 10.1016/j.ymgme.2018.01.004. Epub 2018 Jan 16.

PMID:
29396029
7.

Urea Cycle Disorders Overview.

Ah Mew N, Simpson KL, Gropman AL, Lanpher BC, Chapman KA, Summar ML.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2003 Apr 29 [updated 2017 Jun 22].

8.

Recapitulation of metabolic defects in a model of propionic acidemia using patient-derived primary hepatocytes.

Chapman KA, Collado MS, Figler RA, Hoang SA, Armstrong AJ, Cui W, Purdy M, Simmers MB, Yazigi NA, Summar ML, Wamhoff BR, Dash A.

Mol Genet Metab. 2016 Mar;117(3):355-362. doi: 10.1016/j.ymgme.2015.12.008. Epub 2015 Dec 24.

9.

β2-Adrenergic receptor promoter haplotype influences the severity of acute viral respiratory tract infection during infancy: a prospective cohort study.

Wu P, Larkin EK, Reiss SS, Carroll KN, Summar ML, Minton PA, Woodward KB, Liu Z, Islam JY, Hartert TV, Moore PE.

BMC Med Genet. 2015 Sep 14;16:82. doi: 10.1186/s12881-015-0229-3.

10.

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

Kölker S, Valayannopoulos V, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Boy SP, Rasmussen MB, Burgard P, Chabrol B, Chakrapani A, Chapman K, Cortès I Saladelafont E, Couce ML, de Meirleir L, Dobbelaere D, Furlan F, Gleich F, González MJ, Gradowska W, Grünewald S, Honzik T, Hörster F, Ioannou H, Jalan A, Häberle J, Haege G, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, Murphy E, de Baulny HO, Ortez C, Pedrón CC, Pintos-Morell G, Pena-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Lund AM, Cazorla AG.

J Inherit Metab Dis. 2015 Nov;38(6):1157-8. doi: 10.1007/s10545-015-9868-y. No abstract available.

PMID:
26077421
11.

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.

Kölker S, Cazorla AG, Valayannopoulos V, Lund AM, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Augoustides-Savvopoulou P, Aksglaede L, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Chabrol B, Chakrapani A, Chapman K, I Saladelafont EC, Couce ML, de Meirleir L, Dobbelaere D, Dvorakova V, Furlan F, Gleich F, Gradowska W, Grünewald S, Jalan A, Häberle J, Haege G, Lachmann R, Laemmle A, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, de Baulny HO, Ortez C, Peña-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Staufner C, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Burgard P.

J Inherit Metab Dis. 2015 Nov;38(6):1155-6. doi: 10.1007/s10545-015-9867-z. No abstract available.

PMID:
26077420
12.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

Kölker S, Valayannopoulos V, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Boy SP, Rasmussen MB, Burgard P, Chabrol B, Chakrapani A, Chapman K, Cortès I Saladelafont E, Couce ML, de Meirleir L, Dobbelaere D, Furlan F, Gleich F, González MJ, Gradowska W, Grünewald S, Honzik T, Hörster F, Ioannou H, Jalan A, Häberle J, Haege G, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, Murphy E, de Baulny HO, Ortez C, Pedrón CC, Pintos-Morell G, Pena-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Lund AM, Garcia-Cazorla A.

J Inherit Metab Dis. 2015 Nov;38(6):1059-74. doi: 10.1007/s10545-015-9840-x. Epub 2015 Apr 15. Erratum in: J Inherit Metab Dis. 2015 Nov;38(6):1157-8. Garcia Cazorla, Angeles [corrected to Garcia-Cazorla, Angeles].

PMID:
25875216
13.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.

Kölker S, Garcia-Cazorla A, Valayannopoulos V, Lund AM, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Augoustides-Savvopoulou P, Aksglaede L, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Chabrol B, Chakrapani A, Chapman K, I Saladelafont EC, Couce ML, de Meirleir L, Dobbelaere D, Dvorakova V, Furlan F, Gleich F, Gradowska W, Grünewald S, Jalan A, Häberle J, Haege G, Lachmann R, Laemmle A, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, de Baulny HO, Ortez C, Peña-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Staufner C, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Burgard P.

J Inherit Metab Dis. 2015 Nov;38(6):1041-57. doi: 10.1007/s10545-015-9839-3. Epub 2015 Apr 15. Erratum in: J Inherit Metab Dis. 2015 Nov;38(6):1155-6. Cazorla, Angeles Garcia [corrected to Garcia-Cazorla, Angeles].

PMID:
25875215
14.

A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings.

Li Z, Schonberg R, Guidugli L, Johnson AK, Arnovitz S, Yang S, Scafidi J, Summar ML, Vezina G, Das S, Chapman K, del Gaudio D.

J Hum Genet. 2015 Jul;60(7):363-9. doi: 10.1038/jhg.2015.31. Epub 2015 Mar 26.

15.

Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium.

Kölker S, Dobbelaere D, Häberle J, Burgard P, Gleich F, Summar ML, Hannigan S, Parker S, Chakrapani A, Baumgartner MR; E-IMD Consortium.

JIMD Rep. 2015;22:29-38. doi: 10.1007/8904_2015_408. Epub 2015 Feb 22.

16.

Malignancy in Noonan syndrome and related disorders.

Smpokou P, Zand DJ, Rosenbaum KN, Summar ML.

Clin Genet. 2015 Dec;88(6):516-22. doi: 10.1111/cge.12568. Epub 2015 Mar 4. Review.

PMID:
25683281
18.

Infectious precipitants of acute hyperammonemia are associated with indicators of increased morbidity in patients with urea cycle disorders.

McGuire PJ, Lee HS; members of the Urea Cycle Disorders Consoritum, Summar ML.

J Pediatr. 2013 Dec;163(6):1705-1710.e1. doi: 10.1016/j.jpeds.2013.08.029. Epub 2013 Sep 29.

19.

The incidence of urea cycle disorders.

Summar ML, Koelker S, Freedenberg D, Le Mons C, Haberle J, Lee HS, Kirmse B; European Registry and Network for Intoxication Type Metabolic Diseases (E-IMD). Electronic address: http://www.e-imd.org/en/index.phtml; Members of the Urea Cycle Disorders Consortium (UCDC). Electronic address: http://rarediseasesnetwork.epi.usf.edu/ucdc/.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):179-80. doi: 10.1016/j.ymgme.2013.07.008. Epub 2013 Jul 18.

20.

Low plasma citrulline levels are associated with acute respiratory distress syndrome in patients with severe sepsis.

Ware LB, Magarik JA, Wickersham N, Cunningham G, Rice TW, Christman BW, Wheeler AP, Bernard GR, Summar ML.

Crit Care. 2013 Jan 17;17(1):R10. doi: 10.1186/cc11934.

21.

Dexamethasone significantly attenuates sub-arachnoid hemorrhage-induced elevation in cerebrospinal fluid citrulline and leukocytes.

Spratt DE, Reddy VK, Choxi AA, Simon SD, Shay SD, Davidson MA, Barr FE, Summar ML, Mericle RA.

J Neurosurg Sci. 2012 Dec;56(4):363-71.

PMID:
23111298
22.

Propionic acidemia: to liver transplant or not to liver transplant?

Chapman KA, Summar ML, Enns GM.

Pediatr Transplant. 2012 May;16(3):209-10. doi: 10.1111/j.1399-3046.2012.01649.x. Epub 2012 Feb 15. No abstract available.

PMID:
22332632
23.

Neurologic considerations in propionic acidemia.

Schreiber J, Chapman KA, Summar ML, Ah Mew N, Sutton VR, MacLeod E, Stagni K, Ueda K, Franks J, Island E, Matern D, Peña L, Smith B, Urv T, Venditti C, Chakarapani A, Gropman AL.

Mol Genet Metab. 2012 Jan;105(1):10-5. doi: 10.1016/j.ymgme.2011.10.003. Epub 2011 Oct 19. Review.

PMID:
22078457
24.

Acute management of propionic acidemia.

Chapman KA, Gropman A, MacLeod E, Stagni K, Summar ML, Ueda K, Ah Mew N, Franks J, Island E, Matern D, Pena L, Smith B, Sutton VR, Urv T, Venditti C, Chakrapani A.

Mol Genet Metab. 2012 Jan;105(1):16-25. doi: 10.1016/j.ymgme.2011.09.026. Epub 2011 Sep 24. Review.

25.

Natural history of propionic acidemia.

Pena L, Franks J, Chapman KA, Gropman A, Ah Mew N, Chakrapani A, Island E, MacLeod E, Matern D, Smith B, Stagni K, Sutton VR, Ueda K, Urv T, Venditti C, Enns GM, Summar ML.

Mol Genet Metab. 2012 Jan;105(1):5-9. doi: 10.1016/j.ymgme.2011.09.022. Epub 2011 Sep 22. Review.

PMID:
21986446
26.

Chronic management and health supervision of individuals with propionic acidemia.

Sutton VR, Chapman KA, Gropman AL, MacLeod E, Stagni K, Summar ML, Ueda K, Ah Mew N, Franks J, Island E, Matern D, Peña L, Smith B, Urv T, Venditti C, Chakarapani A.

Mol Genet Metab. 2012 Jan;105(1):26-33. doi: 10.1016/j.ymgme.2011.08.034. Epub 2011 Sep 10. Review.

PMID:
21963082
27.

Propionic acidemia consensus conference summary.

Chapman KA, Summar ML.

Mol Genet Metab. 2012 Jan;105(1):3-4. doi: 10.1016/j.ymgme.2011.08.007. Epub 2011 Aug 16.

PMID:
21908219
28.

Lack of association between autism and four heavy metal regulatory genes.

Owens SE, Summar ML, Ryckman KK, Haines JL, Reiss S, Summar SR, Aschner M.

Neurotoxicology. 2011 Dec;32(6):769-75. doi: 10.1016/j.neuro.2011.07.003. Epub 2011 Jul 20.

29.

Shift work in nurses: contribution of phenotypes and genotypes to adaptation.

Gamble KL, Motsinger-Reif AA, Hida A, Borsetti HM, Servick SV, Ciarleglio CM, Robbins S, Hicks J, Carver K, Hamilton N, Wells N, Summar ML, McMahon DG, Johnson CH.

PLoS One. 2011 Apr 13;6(4):e18395. doi: 10.1371/journal.pone.0018395.

30.

γ-Glutamylcysteine ameliorates oxidative injury in neurons and astrocytes in vitro and increases brain glutathione in vivo.

Le TM, Jiang H, Cunningham GR, Magarik JA, Barge WS, Cato MC, Farina M, Rocha JB, Milatovic D, Lee E, Aschner M, Summar ML.

Neurotoxicology. 2011 Oct;32(5):518-25. doi: 10.1016/j.neuro.2010.11.008. Epub 2010 Dec 13.

31.

An ethnic-specific polymorphism in the catalytic subunit of glutamate-cysteine ligase impairs the production of glutathione intermediates in vitro.

Le TM, Willis AS, Barr FE, Cunningham GR, Canter JA, Owens SE, Apple RK, Ayodo G, Reich D, Summar ML.

Mol Genet Metab. 2010 Sep;101(1):55-61. doi: 10.1016/j.ymgme.2010.05.013. Epub 2010 Jun 9.

32.

Effects of meals high in carbohydrate, protein, and fat on ghrelin and peptide YY secretion in prepubertal children.

Lomenick JP, Melguizo MS, Mitchell SL, Summar ML, Anderson JW.

J Clin Endocrinol Metab. 2009 Nov;94(11):4463-71. doi: 10.1210/jc.2009-0949. Epub 2009 Oct 9.

33.

L-Citrulline ameliorates chronic hypoxia-induced pulmonary hypertension in newborn piglets.

Ananthakrishnan M, Barr FE, Summar ML, Smith HA, Kaplowitz M, Cunningham G, Magarik J, Zhang Y, Fike CD.

Am J Physiol Lung Cell Mol Physiol. 2009 Sep;297(3):L506-11. doi: 10.1152/ajplung.00017.2009. Epub 2009 Jul 17.

34.

Genetic variants of GSNOR and ADRB2 influence response to albuterol in African-American children with severe asthma.

Moore PE, Ryckman KK, Williams SM, Patel N, Summar ML, Sheller JR.

Pediatr Pulmonol. 2009 Jul;44(7):649-54. doi: 10.1002/ppul.21033.

PMID:
19514054
35.

Quantitative RT-PCR comparison of the urea and nitric oxide cycle gene transcripts in adult human tissues.

Neill MA, Aschner J, Barr F, Summar ML.

Mol Genet Metab. 2009 Jun;97(2):121-7. doi: 10.1016/j.ymgme.2009.02.009. Epub 2009 Mar 3.

36.

Genetic continuity after the collapse of the Wari empire: mitochondrial DNA profiles from Wari and post-Wari populations in the ancient Andes.

Kemp BM, Tung TA, Summar ML.

Am J Phys Anthropol. 2009 Sep;140(1):80-91. doi: 10.1002/ajpa.21037.

PMID:
19294741
37.

Population screening in a Druze community: the challenge and the reward.

Falik-Zaccai TC, Kfir N, Frenkel P, Cohen C, Tanus M, Mandel H, Shihab S, Morkos S, Aaref S, Summar ML, Khayat M.

Genet Med. 2008 Dec;10(12):903-9. doi: 10.1097/GIM.0b013e31818d0e0f.

PMID:
19092443
38.

Attitudes regarding vaccination among practitioners of clinical biochemical genetics.

Barshop BA, Summar ML.

Mol Genet Metab. 2008 Sep-Oct;95(1-2):1-2. No abstract available.

PMID:
18816884
39.

Genetic differences in human circadian clock genes among worldwide populations.

Ciarleglio CM, Ryckman KK, Servick SV, Hida A, Robbins S, Wells N, Hicks J, Larson SA, Wiedermann JP, Carver K, Hamilton N, Kidd KK, Kidd JR, Smith JR, Friedlaender J, McMahon DG, Williams SM, Summar ML, Johnson CH.

J Biol Rhythms. 2008 Aug;23(4):330-40. doi: 10.1177/0748730408320284.

40.

Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes.

Summar ML, Dobbelaere D, Brusilow S, Lee B.

Acta Paediatr. 2008 Oct;97(10):1420-5. doi: 10.1111/j.1651-2227.2008.00952.x. Epub 2008 Jul 17.

41.

Cross-sectional multicenter study of patients with urea cycle disorders in the United States.

Tuchman M, Lee B, Lichter-Konecki U, Summar ML, Yudkoff M, Cederbaum SD, Kerr DS, Diaz GA, Seashore MR, Lee HS, McCarter RJ, Krischer JP, Batshaw ML; Urea Cycle Disorders Consortium of the Rare Diseases Clinical Research Network.

Mol Genet Metab. 2008 Aug;94(4):397-402. doi: 10.1016/j.ymgme.2008.05.004. Epub 2008 Jun 17.

42.

Pharmacokinetics and safety of intravenously administered citrulline in children undergoing congenital heart surgery: potential therapy for postoperative pulmonary hypertension.

Barr FE, Tirona RG, Taylor MB, Rice G, Arnold J, Cunningham G, Smith HA, Campbell A, Canter JA, Christian KG, Drinkwater DC, Scholl F, Kavanaugh-McHugh A, Summar ML.

J Thorac Cardiovasc Surg. 2007 Aug;134(2):319-26.

43.

Assessing the functional characteristics of synonymous and nonsynonymous mutation candidates by use of large DNA constructs.

Eeds AM, Mortlock D, Wade-Martins R, Summar ML.

Am J Hum Genet. 2007 Apr;80(4):740-50. Epub 2007 Mar 8.

44.

Genetic variation in the mitochondrial enzyme carbamyl-phosphate synthetase I predisposes children to increased pulmonary artery pressure following surgical repair of congenital heart defects: a validated genetic association study.

Canter JA, Summar ML, Smith HB, Rice GD, Hall LD, Ritchie MD, Motsinger AA, Christian KG, Drinkwater DC Jr, Scholl FG, Dyer KL, Kavanaugh-McHugh AL, Barr FE.

Mitochondrion. 2007 May;7(3):204-10. Epub 2006 Nov 29.

45.

Nitric oxide precursors and congenital heart surgery: a randomized controlled trial of oral citrulline.

Smith HA, Canter JA, Christian KG, Drinkwater DC, Scholl FG, Christman BW, Rice GD, Barr FE, Summar ML.

J Thorac Cardiovasc Surg. 2006 Jul;132(1):58-65.

46.

Respiratory syncytial virus infection reduces beta2-adrenergic responses in human airway smooth muscle.

Moore PE, Cunningham G, Calder MM, DeMatteo AD Jr, Peeples ME, Summar ML, Peebles RS Jr.

Am J Respir Cell Mol Biol. 2006 Nov;35(5):559-64. Epub 2006 Jun 8.

47.

The frequent observation of evidence for nonsense-mediated decay in RNA from patients with carbamyl phosphate synthetase I deficiency.

Eeds AM, Hall LD, Yadav M, Willis A, Summar S, Putnam A, Barr F, Summar ML.

Mol Genet Metab. 2006 Sep-Oct;89(1-2):80-6. Epub 2006 Jun 5.

PMID:
16737834
48.

Genetic counseling issues in urea cycle disorders.

Sniderman King L, Singh RH, Rhead WJ, Smith W, Lee B, Summar ML.

Crit Care Clin. 2005 Oct;21(4 Suppl):S37-44. Review.

PMID:
16227114
49.

Considerations in the difficult-to-manage urea cycle disorder patient.

Lee B, Singh RH, Rhead WJ, Sniderman King L, Smith W, Summar ML.

Crit Care Clin. 2005 Oct;21(4 Suppl):S19-25. Review.

PMID:
16227112
50.

Unmasked adult-onset urea cycle disorders in the critical care setting.

Summar ML, Barr F, Dawling S, Smith W, Lee B, Singh RH, Rhead WJ, Sniderman King L, Christman BW.

Crit Care Clin. 2005 Oct;21(4 Suppl):S1-8. Review.

PMID:
16227111

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