1 to 10 of 71 literature results

• Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in c7orf10.

  While screening Old Order Amish children for glutaric aciduria type 1 (GA1) between 1989 and 1993, we found three healthy children who excreted abnorm…

  Authors: Eric A Sherman, Kevin A Strauss, Silvia Tortorelli, Michael J Bennett, Ina Knerr, D Holmes Morton, Erik G Puffenberger

  Source: American journal of human genetics. 2008 Nov

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• Hyperinsulinism in infancy and childhood: when an insulin level is not always enough.

  BACKGROUND: Hypoglycemia in infants and children can lead to seizures, developmental delay, and permanent brain damage. Hyperinsulinism (HI) is the mo…

  Authors: Andrew A Palladino, Michael J Bennett, Charles A Stanley

  Source: Clinical chemistry. 2008 Feb

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• Fatty acid oxidation disorders.

  Genetic disorders of mitochondrial fatty acid beta-oxidation have been recognized within the last 20 years as important causes of morbidity and mortal…

  Authors: Piero Rinaldo, Dietrich Matern, Michael J Bennett

  Source: Annual review of physiology. 2002

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• HIF-2alpha regulates murine hematopoietic development in an erythropoietin-dependent manner.

  Erythropoiesis in the adult mammal depends critically on erythropoietin, an inducible cytokine with pluripotent effects. Erythropoietin gene expressio…

  Authors: Marzia Scortegagna, Kan Ding, Quiyang Zhang, Yavuz Oktay, Michael J Bennett, Michael Bennett, John M Shelton, James A Richardson, Orson Moe, Joseph A Garcia

  Source: Blood. 2005 Apr 15

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• CLN3P, the Batten's disease protein, is a novel palmitoyl-protein Delta-9 desaturase.

  OBJECTIVE: Batten's disease, one of the most common recessively inherited, untreatable, neurodegenerative diseases of humans, is characterized by prog…

  Authors: Srinivas B Narayan, Dinesh Rakheja, Lu Tan, Johanne V Pastor, Michael J Bennett

  Source: Annals of neurology. 2006 Nov

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• Multiple organ pathology, metabolic abnormalities and impaired homeostasis of reactive oxygen species in Epas1-/- mice.

  Hypoxia-inducible factor (HIF) transcription factors respond to multiple environmental stressors, including hypoxia and hypoglycemia. We report that m…

  Authors: Marzia Scortegagna, Kan Ding, Yavuz Oktay, Arti Gaur, Frederick Thurmond, Liang-Jun Yan, Brett T Marck, Alvin M Matsumoto, John M Shelton, James A Richardson,…

  Source: Nature genetics. 2003 Dec

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• National academy of clinical biochemistry laboratory medicine practice guidelines: follow-up testing for metabolic disease identified by expanded newborn screening using tandem mass spectrometry; executive summary.

  BACKGROUND: Almost all newborns in the US are screened at birth for multiple inborn errors of metabolism using tandem mass spectrometry. Screening tes…

  Authors: Dennis J Dietzen, Piero Rinaldo, Ronald J Whitley, William J Rhead, W Harry Hannon, Uttam C Garg, Stanley F Lo, Michael J Bennett

  Source: Clinical chemistry. 2009 Sep

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• Short-chain acyl-coenzyme A dehydrogenase deficiency.

  Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a disorder of mitochondrial fatty acid oxidation that leads to the accumulation of butyrylcar…

  Authors: Reena Jethva, Michael J Bennett, Jerry Vockley

  Source: Molecular genetics and metabolism. 2008 Dec

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• Intermediate levels of neuronal palmitoyl-protein Delta-9 desaturase in heterozygotes for murine Batten disease.

  We recently demonstrated reduced activity of a novel palmitoyl-protein Delta-9 desaturase in neuronal tissues from mice with the cln3 Juvenile Neurona…

  Authors: Srinivas B Narayan, Lu Tan, Michael J Bennett

  Source: Molecular genetics and metabolism. 2008 Jan

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• Untargeted metabolomic analysis hits the target.

  Authors: Michael J Bennett

  Source: Clinical chemistry. 2007 Dec

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