Medical College of Wisconsin
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Publications indexed to the term Lipid Metabolism, Inborn Errors

FacultyTitle
1Sitosterolemia: platelets on high-sterol diet. (Falet H) Blood 2013 Oct 10;122(15):2534-5       5 Citations
2Platelet hyperreactivity explains the bleeding abnormality and macrothrombocytopenia in a murine model of sitosterolemia. (Kanaji T, Kanaji S, Montgomery RR, Patel SB, Newman PJ) Blood 2013 Oct 10;122(15):2732-42       62 Citations
1Compared effects of missense mutations in Very-Long-Chain Acyl-CoA Dehydrogenase deficiency: Combined analysis by structural, functional and pharmacological approaches. (Gobin-Limballe S, McAndrew RP, Djouadi F, Kim JJ, Bastin J) Biochim Biophys Acta 2010 May;1802(5):478-84       35 Citations
1Sitosterolaemia: pathophysiology, clinical presentation and laboratory diagnosis. (Kidambi S, Patel SB) J Clin Pathol 2008 May;61(5):588-94       111 Citations
1Structural basis for substrate fatty acyl chain specificity: crystal structure of human very-long-chain acyl-CoA dehydrogenase. (McAndrew RP, Wang Y, Mohsen AW, He M, Vockley J, Kim JJ) J Biol Chem 2008 Apr 04;283(14):9435-43       98 Citations
1Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency. (Chiong MA, Sim KG, Carpenter K, Rhead W, Ho G, Olsen RK, Christodoulou J) Mol Genet Metab 2007;92(1-2):109-14       46 Citations
1Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective. (Rhead WJ) J Inherit Metab Dis 2006;29(2-3):370-7       85 Citations
1Gestational, pathologic and biochemical differences between very long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the mouse. (Cox KB, Hamm DA, Millington DS, Matern D, Vockley J, Rinaldo P, Pinkert CA, Rhead WJ, Lindsey JR, Wood PA) Hum Mol Genet 2001 Sep 15;10(19):2069-77       114 Citations
1Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption. (Lee MH, Lu K, Hazard S, Yu H, Shulenin S, Hidaka H, Kojima H, Allikmets R, Sakuma N, Pegoraro R, Srivastava AK, Salen G, Dean M, Patel SB) Nat Genet 2001 Jan;27(1):79-83       640 Citations
1Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency. (Corydon MJ, Vockley J, Rinaldo P, Rhead WJ, Kjeldsen M, Winter V, Riggs C, Babovic-Vuksanovic D, Smeitink J, De Jong J, Levy H, Sewell AC, Roe C, Matern D, Dasouki M, Gregersen N) Pediatr Res 2001 Jan;49(1):18-23       114 Citations
1Lessons learned from the mouse model of short-chain acyl-CoA dehydrogenase deficiency. (Wood PA, Kelly-Kurtz CL, Hinsdale ME, Hamm DA, Rhead WJ) Adv Exp Med Biol 1999;466:395-402       4 Citations
1Targeted disruption of mouse long-chain acyl-CoA dehydrogenase gene reveals crucial roles for fatty acid oxidation. (Kurtz DM, Rinaldo P, Rhead WJ, Tian L, Millington DS, Vockley J, Hamm DA, Brix AE, Lindsey JR, Pinkert CA, O'Brien WE, Wood PA) Proc Natl Acad Sci U S A 1998 Dec 22;95(26):15592-7       217 Citations
1Analysis of carnitine esters by radio-high performance liquid chromatography in cultured skin fibroblasts from patients with mitochondrial fatty acid oxidation disorders. (Schmidt-Sommerfeld E, Bobrowski PJ, Penn D, Rhead WJ, Wanders RJ, Bennett MJ) Pediatr Res 1998 Aug;44(2):210-4       17 Citations
1Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients. (Aoyama T, Souri M, Ueno I, Kamijo T, Yamaguchi S, Rhead WJ, Tanaka K, Hashimoto T) Am J Hum Genet 1995 Aug;57(2):273-83       76 Citations
1Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients. (Aoyama T, Souri M, Ushikubo S, Kamijo T, Yamaguchi S, Kelley RI, Rhead WJ, Uetake K, Tanaka K, Hashimoto T) J Clin Invest 1995 Jun;95(6):2465-73       160 Citations
1A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase. (Aoyama T, Uchida Y, Kelley RI, Marble M, Hofman K, Tonsgard JH, Rhead WJ, Hashimoto T) Biochem Biophys Res Commun 1993 Mar 31;191(3):1369-72       151 Citations
1Glutaric acidemia type II. Heterogeneity in beta-oxidation flux, polypeptide synthesis, and complementary DNA mutations in the alpha subunit of electron transfer flavoprotein in eight patients. (Freneaux E, Sheffield VC, Molin L, Shires A, Rhead WJ) J Clin Invest 1992 Nov;90(5):1679-86       50 Citations
1Urinary medium-chain acylcarnitines in medium-chain acyl-CoA dehydrogenase deficiency, medium-chain triglyceride feeding and valproic acid therapy: sensitivity and specificity of the radioisotopic exchange/high performance liquid chromatography method. (Schmidt-Sommerfeld E, Penn D, Rinaldo P, Kossak D, Li BU, Huang ZH, Gage DA) Pediatr Res 1992 Jun;31(6):545-51       22 Citations
1Defect in fatty acid oxidation: laboratory and pathologic findings in a patient. (Tonsgard JH, Stephens JK, Rhead WJ, Penn D, Horwitz AL, Kirschner BS, Whitington PF, Berger S, Tripp ME) Pediatr Neurol 1991;7(2):125-30       6 Citations
1Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients. (Amendt BA, Greene C, Sweetman L, Cloherty J, Shih V, Moon A, Teel L, Rhead WJ) J Clin Invest 1987 May;79(5):1303-9       157 Citations
1Complementation analysis of fatty acid oxidation disorders. (Moon A, Rhead WJ) J Clin Invest 1987 Jan;79(1):59-64       92 Citations
1Sudden child death and 'healthy' affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency. (Duran M, Hofkamp M, Rhead WJ, Saudubray JM, Wadman SK) Pediatrics 1986 Dec;78(6):1052-7       109 Citations
1The multiple acyl-coenzyme A dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria. Mitochondrial fatty acid oxidation, acyl-coenzyme A dehydrogenase, and electron transfer flavoprotein activities in fibroblasts. (Amendt BA, Rhead WJ) J Clin Invest 1986 Jul;78(1):205-13       54 Citations
1Catalytic defect of medium-chain acyl-coenzyme A dehydrogenase deficiency. Lack of both cofactor responsiveness and biochemical heterogeneity in eight patients. (Amendt BA, Rhead WJ) J Clin Invest 1985 Sep;76(3):963-9       14 Citations
1Dicarboxylic aciduria: deficient [1-14C]octanoate oxidation and medium-chain acyl-CoA dehydrogenase in fibroblasts. (Rhead WJ, Amendt BA, Fritchman KS, Felts SJ) Science 1983 Jul 01;221(4605):73-5       87 Citations