Publications

This list includes:

  • Clinical laboratory methods developed in-house
  • Original research performed in our labs
  • Analytical work performed for clients from both industry and academia

2014-2015 | 2011-2013 | 2006-2010 | 2001-2005

Venn-Watson SK, Parry C, Baird M, Stevenson S, Carlin K, Daniels R, Smith CR, Jones R, Wells RS, Ridgway S, Jensen ED. (2015). Increased Dietary Intake of Saturated Fatty Acid Heptadecanoic Acid (C17:0) Associated with Decreasing Ferritin and Alleviated Metabolic Syndrome in Dolphins. PLoS One, 10(7), e0132117.

Gong Y, Mu D, Prabhakar S, Moser A, Musolino P, Ren J, Breakefield XO, Maguire CA, Eichler FS. (2015). Adenoassociated virus serotype 9-mediated gene therapy for x-linked adrenoleukodystrophy. Molecular Therapy, 23(5), 824-34.

Posey JE, Burrage LC, Campeau PM, Lu JT, Eble TN, Kratz L, Schlesinger AE, Gibbs RA, Lee BH, Nagamani SC. (2015). Adult presentation of X-linked Conradi-Hünermann-Happle syndrome. American Journal of Medical Genetics. Part A, 167(6), 1309-1314.

Dorninger F, Brodde A, Braverman NE, Moser AB, Just WW, Forss-Petter S, Brügger B, Berger J. (2015). Homeostasis of phospholipids - The level of phosphatidylethanolamine tightly adapts to changes in ethanolamine plasmalogens. Biochimica et Biophysica Acta, 1851(2), 117-128.

Kataria Y, Wright M, Deaton RJ, Rueter EE, Rybicki BA, Moser AB, Ananthanrayanan V, Gann PH. (2015). Dietary influences on tissue concentrations of phytanic acid and AMACR expression in the benign human prostate. Prostate, 75(2), 200-210.

Turgeon CT, Moser AB, Mørkrid L, Magera MJ, Gavrilov DK, Oglesbee D, Raymond K, Rinaldo P, Matern D, Tortorelli S. (2015). Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy. Molecular Genetics and Metabolism, 114(1), 46-50.

Ferdinandusse S, Jimenez-Sanchez G, Koster J, Denis S, Van Roermund CW, Silva-Zolezzi I, Moser AB, Visser WF, Gulluoglu M, Durmaz O, Demirkol M, Waterham HR, Gökcay G, Wanders RJ, Valle D. (2015). A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3. Human Molecular Genetics, 24(2), 361-370.

Wang RY, Monuki ES, Powers J, Schwartz PH, Watkins PA, Shi Y, Moser A, Shrier DA, Waterham HR, Nugent DJ, Abdenur JE. (2014). Effects of hematopoietic stem cell transplantation on acyl-CoA oxidase deficiency: a sibling comparison study. Journal of Inherited Metabolic Disease, 37(5), 791-799.

Wright ME, Albanes D, Moser AB, Weinstein SJ, Snyder K, Männistö S, Gann PH. (2014). Serum phytanic and pristanic acid levels and prostate cancer risk in Finnish smokers. Cancer Medicine, 3(6), 1562-1569.

Walter KM, Schönenberger MJ, Trötzmüller M, Horn M, Elsässer HP, Moser AB, Lucas MS, Schwarz T, Gerber PA, Faust PL, Moch H, Köfeler HC, Krek W, Kovacs WJ. (2014). Hif-2α promotes degradation of mammalian peroxisomes by selective autophagy. Cell Metabolism, 20(5), 882-897.

DeFilippis AP, Rai SN, Cambon A, Miles RJ, Jaffe AS, Moser AB, Jones RO, Bolli R, Schulman SP. (2014). Fatty acids and TxA(2) generation, in the absence of platelet-COX-1 activity. Nutrition, Metabolism, and Cardiovascular Diseases: NMCD, 24(4), 428-433.

Dias C, Rupps R, Millar B, Choi K, Marra M, Demos M, Kratz LE, Boerkoel CF. (2014). Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders. Orphanet Journal of Rare Diseases, 9, 94.

Vernon HJ, Sandlers Y, McClellan R, Kelley RI. (2014). Clinical laboratory studies in Barth Syndrome. Molecular Genetics and Metabolism, 112(2), 143-147.

Sparks SE, Wassif CA, Goodwin H, Conley SK, Lanham DC, Kratz LE, Hyland K, Gropman A, Tierney E, Porter FD. (2014). Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome. Journal of Inherited Metabolic Disease, 37(3), 415-420.

Hiebler S, Masuda T, Hacia JG, Moser AB, Faust PL, Liu A, Chowdhury N, Huang N, Lauer A, Bennett J, Watkins PA, Zack DJ, Braverman NE, Raymond GV, Steinberg SJ. (2014). The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder. Molecular Genetics and Metabolism, 111(4), 522-532.

Ribbens JJ, Moser AB, Hubbard WC, Bongarzone ER, Maegawa GH. (2014). Characterization and application of a disease-cell model for a neurodegenerative lysosomal disease. Molecular Genetics and Metabolism, 111(2), 172-183.

Theda C, Gibbons K, Defor TE, Donohue PK, Golden WC, Kline AD, Gulamali-Majid F, Panny SR, Hubbard WC, Jones RO, Liu AK, Moser AB, Raymond GV. (2014). Newborn screening for X-linked adrenoleukodystrophy: further evidence high throughput screening is feasible. Molecular Genetics and Metabolism, 111(1), 55-57.