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Shawn E. McCandless

TitleProfessor
InstitutionUniversity of Colorado Denver - Anschutz Medical Campus
DepartmentSOM-PEDS

    Collapse Research 
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    K08DK074573     (MCCANDLESS, SHAWN E)Sep 20, 2007 - Aug 31, 2012
    NIH/NIDDK
    Pathophysiology and Treatment of Medium-Chain Acyl-CoA Dehydrogenase Deficiency
    Role: Principal Investigator

    Collapse Bibliographic 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Li H, Byers HM, Diaz-Kuan A, Vos MB, Hall PL, Tortorelli S, Singh R, Wallenstein MB, Allain M, Dimmock DP, Farrell RM, McCandless S, Gambello MJ. Acute liver failure in neonates with undiagnosed hereditary fructose intolerance due to exposure from widely available infant formulas. Mol Genet Metab. 2018 Apr; 123(4):428-432. PMID: 29510902.
      View in: PubMed
    2. Schillaci LP, DeBrosse SD, McCandless SE. Inborn Errors of Metabolism with Acidosis: Organic Acidemias and Defects of Pyruvate and Ketone Body Metabolism. Pediatr Clin North Am. 2018 Apr; 65(2):209-230. PMID: 29502910.
      View in: PubMed
    3. Shin HK, Grahame G, McCandless SE, Kerr DS, Bedoyan JK. Enzymatic testing sensitivity, variability and practical diagnostic algorithm for pyruvate dehydrogenase complex (PDC) deficiency. Mol Genet Metab. 2017 Nov; 122(3):61-66. PMID: 28918066.
      View in: PubMed
    4. Berry SA, Longo N, Diaz GA, McCandless SE, Smith WE, Harding CO, Zori R, Ficicioglu C, Lichter-Konecki U, Robinson B, Vockley J. Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2months to 2years. Mol Genet Metab. 2017 Nov; 122(3):46-53. PMID: 28916119.
      View in: PubMed
    5. McCandless SE, Yanovski JA, Miller J, Fu C, Bird LM, Salehi P, Chan CL, Stafford D, Abuzzahab MJ, Viskochil D, Barlow SE, Angulo M, Myers SE, Whitman BY, Styne D, Roof E, Dykens EM, Scheimann AO, Malloy J, Zhuang D, Taylor K, Hughes TE, Kim DD, Butler MG. Effects of MetAP2 inhibition on hyperphagia and body weight in Prader-Willi syndrome: A randomized, double-blind, placebo-controlled trial. Diabetes Obes Metab. 2017 Dec; 19(12):1751-1761. PMID: 28556449.
      View in: PubMed
    6. Schillaci LA, Greene CL, Strovel E, Rispoli-Joines J, Spector E, Woontner M, Scharer G, Enns GM, Gallagher R, Zinn AB, McCandless SE, Hoppel CL, Goodman SI, Bedoyan JK. The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors. Mol Genet Metab. 2016 09; 119(1-2):50-6. PMID: 27397597.
      View in: PubMed
    7. Lee B, Diaz GA, Rhead W, Lichter-Konecki U, Feigenbaum A, Berry SA, Le Mons C, Bartley J, Longo N, Nagamani SC, Berquist W, Gallagher RC, Harding CO, McCandless SE, Smith W, Schulze A, Marino M, Rowell R, Coakley DF, Mokhtarani M, Scharschmidt BF. Glutamine and hyperammonemic crises in patients with urea cycle disorders. Mol Genet Metab. 2016 Jan; 117(1):27-32. PMID: 26586473; PMCID: PMC4915945.
    8. Mokhtarani M, Diaz GA, Lichter-Konecki U, Berry SA, Bartley J, McCandless SE, Smith W, Harding C, Le Mons C, Coakley DF, Lee B, Scharschmidt BF. Urinary phenylacetylglutamine (U-PAGN) concentration as biomarker for adherence in patients with urea cycle disorders (UCD) treated with glycerol phenylbutyrate. Mol Genet Metab Rep. 2015 Dec; 5:12-14. PMID: 28649536.
      View in: PubMed
    9. Lisi EC, McCandless SE. Newborn Screening for Lysosomal Storage Disorders: Views of Genetic Healthcare Providers. J Genet Couns. 2016 Apr; 25(2):373-84. PMID: 26315880.
      View in: PubMed
    10. Nagamani SC, Diaz GA, Rhead W, Berry SA, Le Mons C, Lichter-Konecki U, Bartley J, Feigenbaum A, Schulze A, Longo N, Berquist W, Gallagher R, Bartholomew D, Harding CO, Korson MS, McCandless SE, Smith W, Vockley J, Kronn D, Zori R, Cederbaum S, Merritt JL, Wong D, Coakley DF, Scharschmidt BF, Dickinson K, Marino M, Lee BH, Mokhtarani M. Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials. Mol Genet Metab. 2015 Sep-Oct; 116(1-2):29-34. PMID: 26296711; PMCID: PMC4804346.
    11. Tim-Aroon T, Harmon HM, Nock ML, Viswanathan SK, McCandless SE. Stopping Parenteral Nutrition for 3 Hours Reduces False Positives in Newborn Screening. J Pediatr. 2015 Aug; 167(2):312-6. PMID: 26003996.
      View in: PubMed
    12. Lee B, Diaz GA, Rhead W, Lichter-Konecki U, Feigenbaum A, Berry SA, Le Mons C, Bartley JA, Longo N, Nagamani SC, Berquist W, Gallagher R, Bartholomew D, Harding CO, Korson MS, McCandless SE, Smith W, Cederbaum S, Wong D, Merritt JL, Schulze A, Vockley J, Vockley G, Kronn D, Zori R, Summar M, Milikien DA, Marino M, Coakley DF, Mokhtarani M, Scharschmidt BF. Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder. Genet Med. 2015 Jul; 17(7):561-8. PMID: 25503497; PMCID: PMC4465427.
    13. Deeb KK, Bedoyan JK, Wang R, Sremba L, Schroeder MC, Grahame GJ, Boyer M, McCandless SE, Kerr DS, Zhang S. Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency. Mol Genet Metab Rep. 2014; 1:362-367. PMID: 27896109.
      View in: PubMed
    14. Nardini MD, Matthews AL, McCandless SE, Baumanis L, Goldenberg AJ. Genomic counseling in the newborn period: experiences and views of genetic counselors. J Genet Couns. 2014 Aug; 23(4):506-15. PMID: 24659383.
      View in: PubMed
    15. Berry SA, Lichter-Konecki U, Diaz GA, McCandless SE, Rhead W, Smith W, Lemons C, Nagamani SC, Coakley DF, Mokhtarani M, Scharschmidt BF, Lee B. Glycerol phenylbutyrate treatment in children with urea cycle disorders: pooled analysis of short and long-term ammonia control and outcomes. Mol Genet Metab. 2014 May; 112(1):17-24. PMID: 24630270; PMCID: PMC4382922.
    16. Fujioka H, Tandler B, Rosca M, McCandless SE, Katirji B, Cohen ML, Rapisuwon S, Hoppel CL. Multiple muscle cell alterations in a case of encephalomyopathy. Ultrastruct Pathol. 2014 Feb; 38(1):13-25. PMID: 24134831.
      View in: PubMed
    17. Mokhtarani M, Diaz GA, Rhead W, Berry SA, Lichter-Konecki U, Feigenbaum A, Schulze A, Longo N, Bartley J, Berquist W, Gallagher R, Smith W, McCandless SE, Harding C, Rockey DC, Vierling JM, Mantry P, Ghabril M, Brown RS, Dickinson K, Moors T, Norris C, Coakley D, Milikien DA, Nagamani SC, Lemons C, Lee B, Scharschmidt BF. Elevated phenylacetic acid levels do not correlate with adverse events in patients with urea cycle disorders or hepatic encephalopathy and can be predicted based on the plasma PAA to PAGN ratio. Mol Genet Metab. 2013 Dec; 110(4):446-53. PMID: 24144944; PMCID: PMC4108288.
    18. Tarini BA, Konczal LL, Goldenberg AJ, Goldman EB, McCandless SE. The perils of SNP microarray testing: uncovering unexpected consanguinity. Pediatr Neurol. 2013 Jul; 49(1):50-3. PMID: 23827427; PMCID: PMC3703098.
    19. Smith W, Diaz GA, Lichter-Konecki U, Berry SA, Harding CO, McCandless SE, LeMons C, Mauney J, Dickinson K, Coakley DF, Moors T, Mokhtarani M, Scharschmidt BF, Lee B. Ammonia control in children ages 2 months through 5 years with urea cycle disorders: comparison of sodium phenylbutyrate and glycerol phenylbutyrate. J Pediatr. 2013 Jun; 162(6):1228-34, 1234.e1. PMID: 23324524; PMCID: PMC4017326.
    20. Diaz GA, Krivitzky LS, Mokhtarani M, Rhead W, Bartley J, Feigenbaum A, Longo N, Berquist W, Berry SA, Gallagher R, Lichter-Konecki U, Bartholomew D, Harding CO, Cederbaum S, McCandless SE, Smith W, Vockley G, Bart SA, Korson MS, Kronn D, Zori R, Merritt JL, C S Nagamani S, Mauney J, Lemons C, Dickinson K, Moors TL, Coakley DF, Scharschmidt BF, Lee B. Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate. Hepatology. 2013 Jun; 57(6):2171-9. PMID: 22961727; PMCID: PMC3557606.
    21. McCandless SE, Chandrasekar R, Linard S, Kikano S, Rice L. Sequencing from dried blood spots in infants with "false positive" newborn screen for MCAD deficiency. Mol Genet Metab. 2013 Jan; 108(1):51-5. PMID: 23151387; PMCID: PMC3676896.
    22. Stacpoole PW, deGrauw TJ, Feigenbaum AS, Hoppel C, Kerr DS, McCandless SE, Miles MV, Robinson BH, Tang PH. Design and implementation of the first randomized controlled trial of coenzyme CoQ10 in children with primary mitochondrial diseases. Mitochondrion. 2012 Nov; 12(6):623-9. PMID: 23022402; PMCID: PMC3975832.
    23. McCandless SE, Powell KP, Sandberg U. Risk for ingestion of toxic substances in children with Prader-Willi syndrome. Am J Med Genet A. 2012 Nov; 158A(11):2866-9. PMID: 22987600.
      View in: PubMed
    24. Mokhtarani M, Diaz GA, Rhead W, Lichter-Konecki U, Bartley J, Feigenbaum A, Longo N, Berquist W, Berry SA, Gallagher R, Bartholomew D, Harding CO, Korson MS, McCandless SE, Smith W, Vockley J, Bart S, Kronn D, Zori R, Cederbaum S, Dorrani N, Merritt JL, Sreenath-Nagamani S, Summar M, Lemons C, Dickinson K, Coakley DF, Moors TL, Lee B, Scharschmidt BF. Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders. Mol Genet Metab. 2012 Nov; 107(3):308-14. PMID: 22958974; PMCID: PMC3608516.
    25. Burrage LC, McConnell J, Haesler R, O'Riordan MA, Sutton VR, Kerr DS, McCandless SE. High prevalence of overweight and obesity in females with phenylketonuria. Mol Genet Metab. 2012 Sep; 107(1-2):43-8. PMID: 22846370.
      View in: PubMed
    26. McCandless SE. Clinical report—health supervision for children with Prader-Willi syndrome. Pediatrics. 2011 Jan; 127(1):195-204. PMID: 21187304.
      View in: PubMed
    27. Al-Kateb H, Hahn A, Gastier-Foster JM, Jeng L, McCandless SE, Curtis CA. Molecular characterization of a novel, de novo, cryptic interstitial deletion on 19p13.3 in a child with a cutis aplasia and multiple congenital anomalies. Am J Med Genet A. 2010 Dec; 152A(12):3148-53. PMID: 21108400.
      View in: PubMed
    28. Izumi K, Hokuto I, Yamaguchi S, Uezono A, Ikeda K, Rice L, McCandless SE, Craven DI. Diaphragm dysfunction with congenital cytomegalovirus infection. J Perinatol. 2010 Oct; 30(10):691-4. PMID: 20877363.
      View in: PubMed
    29. Slavin TP, McCandless SE, Lazebnik N. McKusick-Kaufman syndrome: the difficulty of establishing a prenatal diagnosis of an uncommon disorder. J Clin Ultrasound. 2010 Mar-Apr; 38(3):151-5. PMID: 20091696.
      View in: PubMed
    30. Seminara J, Tuchman M, Krivitzky L, Krischer J, Lee HS, Lemons C, Baumgartner M, Cederbaum S, Diaz GA, Feigenbaum A, Gallagher RC, Harding CO, Kerr DS, Lanpher B, Lee B, Lichter-Konecki U, McCandless SE, Merritt JL, Oster-Granite ML, Seashore MR, Stricker T, Summar M, Waisbren S, Yudkoff M, Batshaw ML. Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium. Mol Genet Metab. 2010; 100 Suppl 1:S97-105. PMID: 20188616; PMCID: PMC2858794.
    31. Grant LW, McCandless SE, Traboulsi EI. Maculopathy Due to Cobalamin C (cb1C) Disease in an Amish Child. J Pediatr Ophthalmol Strabismus. 2009 Oct 02. PMID: 19791709.
      View in: PubMed
    32. 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. Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease. Genet Med. 2009 Mar; 11(3):210-9. PMID: 19287243.
      View in: PubMed
    33. Muenzer J, Gucsavas-Calikoglu M, McCandless SE, Schuetz TJ, Kimura A. A phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome). Mol Genet Metab. 2007 Mar; 90(3):329-37. PMID: 17185020.
      View in: PubMed
    34. Frazier DM, Millington DS, McCandless SE, Koeberl DD, Weavil SD, Chaing SH, Muenzer J. The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005. J Inherit Metab Dis. 2006 Feb; 29(1):76-85. PMID: 16601872.
      View in: PubMed
    35. Fan H, Booker JK, McCandless SE, Shashi V, Fleming A, Farber RA. Mosaicism for an FMR1 gene deletion in a fragile X female. Am J Med Genet A. 2005 Jul 15; 136(2):214-7. PMID: 15940701.
      View in: PubMed
    36. Quigley DI, Sailus J, Kaiser-Rogers K, Rao KW, Calikoglu M, Gold S, McCandless SE. A clinical report of a patient with two abnormal cell lines: 46,XX,del(21)(q22.1) and 47,XX,+3. Am J Med Genet A. 2005 Jan 01; 132A(1):101-5. PMID: 15580640.
      View in: PubMed
    37. O'Reilly L, Bross P, Corydon TJ, Olpin SE, Hansen J, Kenney JM, McCandless SE, Frazier DM, Winter V, Gregersen N, Engel PC, Andresen BS. The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive. Eur J Biochem. 2004 Oct; 271(20):4053-63. PMID: 15479234.
      View in: PubMed
    38. McCandless SE. A primer on expanded newborn screening by tandem mass spectrometry. Prim Care. 2004 Sep; 31(3):583-604, ix-x. PMID: 15331249.
      View in: PubMed
    39. McCandless SE, Brunger JW, Cassidy SB. The burden of genetic disease on inpatient care in a children's hospital. Am J Hum Genet. 2004 Jan; 74(1):121-7. PMID: 14681831; PMCID: PMC1181899.
    40. Harvey Mudd S, Braverman N, Pomper M, Tezcan K, Kronick J, Jayakar P, Garganta C, Ampola MG, Levy HL, McCandless SE, Wiltse H, Stabler SP, Allen RH, Wagner C, Borschel MW. Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trap. Mol Genet Metab. 2003 May; 79(1):6-16. PMID: 12765841.
      View in: PubMed
    41. Koeberl DD, Millington DS, Smith WE, Weavil SD, Muenzer J, McCandless SE, Kishnani PS, McDonald MT, Chaing S, Boney A, Moore E, Frazier DM. Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening. J Inherit Metab Dis. 2003; 26(1):25-35. PMID: 12872837.
      View in: PubMed
    42. Andresen BS, Dobrowolski SF, O'Reilly L, Muenzer J, McCandless SE, Frazier DM, Udvari S, Bross P, Knudsen I, Banas R, Chace DH, Engel P, Naylor EW, Gregersen N. Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency. Am J Hum Genet. 2001 Jun; 68(6):1408-18. PMID: 11349232; PMCID: PMC1226127.
    43. Chadwick LH, McCandless SE, Silverman GL, Schwartz S, Westaway D, Nadeau JH. Betaine-homocysteine methyltransferase-2: cDNA cloning, gene sequence, physical mapping, and expression of the human and mouse genes. Genomics. 2000 Nov 15; 70(1):66-73. PMID: 11087663.
      View in: PubMed
    44. McCandless SE, Schwartz S, Morrison S, Garlapati K, Robin NH. Adult with an interstitial deletion of chromosome 10 [del(10)(q25. 1q25.3)]: overlap with Coffin-Lowry syndrome. Am J Med Genet. 2000 Nov 13; 95(2):93-8. PMID: 11078556.
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    45. Ohta T, Buiting K, Kokkonen H, McCandless S, Heeger S, Leisti H, Driscoll DJ, Cassidy SB, Horsthemke B, Nicholls RD. Molecular mechanism of angelman syndrome in two large families involves an imprinting mutation. Am J Hum Genet. 1999 Feb; 64(2):385-96. PMID: 9973277; PMCID: PMC1377749.
    46. Ievers CE, Brown RT, McCandless SE, Devine DE. Case studies: psychological test findings for two children with X-linked adrenoleukodystrophy. J Dev Behav Pediatr. 1999 Feb; 20(1):31-5. PMID: 10071943.
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    47. McCandless SE, Robin NH. Severe oculocerebrocutaneous (Delleman) syndrome: overlap with Goldenhar anomaly. Am J Med Genet. 1998 Jul 07; 78(3):282-5. PMID: 9677067.
      View in: PubMed
    48. McCandless SE, Scott JA, Robin NH. Deletion 22q11: a newly recognized cause of behavioral and psychiatric disorders. Arch Pediatr Adolesc Med. 1998 May; 152(5):481-4. PMID: 9605032.
      View in: PubMed
    49. Robin NH, Abbadi N, McCandless SE, Nadeau JH. Disorganization in mice and humans and its relation to sporadic birth defects. Am J Med Genet. 1997 Dec 31; 73(4):425-36. PMID: 9415470.
      View in: PubMed
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