Search Results - "Nyhan, L."

Metabolomics Reveals Signature of Mitochondrial Dysfunction in Diabetic Kidney Disease by SHARMA, Kumar, KARL, Bethany, DIAMOND-STANIC, Maggie, LINDENMEYER, Maja T, FORSBLOM, Carol, WEI WU, IX, Joachim H, IDEKER, Trey, KOPP, Jeffrey B, NIGAM, Sanjay K, COHEN, Clemens D, GROOP, Per-Henrik, MATHEW, Anna V, BARSHOP, Bruce A, NATARAJAN, Loki, NYHAN, William L, NAVIAUX, Robert K, GANGOITI, Jon A, WASSEL, Christina L, SAITO, Rintaro, MINYA PU, SHARMA, Shoba, YOU, Young-Hyun, LIN WANG

“…Diabetic kidney disease is the leading cause of ESRD, but few biomarkers of diabetic kidney disease are available. This study used gas chromatography-mass…”
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An evaluation of Lux technology as an alternative methodology to determine growth rates of Listeria in laboratory media and complex food matrices by Nyhan, L., Begley, M., Johnson, N., Callanan, M.

“…Listeria monocytogenes is a foodborne pathogen which is a significant challenge in food production, particularly for ready-to-eat (RTE) products. Incidence of…”
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Quantification of various APP-mRNA isoforms and epistasis in Lesch-Nyhan disease by Nguyen, Khue Vu, Nyhan, William L.

“…•Amyloid Precursor Protein (APP) gene.•APP-mRNA isoforms.•Lesch-Nyhan Disease.•Neurodevelopmenatal and Neurodegenerative Disorders. The present work is the…”
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Predicting the combinatorial effects of water activity, pH and organic acids on Listeria growth in media and complex food matrices by Nyhan, L., Begley, M., Mutel, A., Qu, Y., Johnson, N., Callanan, M.

“…The aim of this study was to develop a model to predict growth of Listeria in complex food matrices as a function of pH, water activity and undissociated…”
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Genotype–phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder by Fu, Rong, Ceballos-Picot, Irene, Torres, Rosa J., Larovere, Laura E., Yamada, Yasukazu, Nguyen, Khue V., Hegde, Madhuri, Visser, Jasper E., Schretlen, David J., Nyhan, William L., Puig, Juan G., O’Neill, Patrick J., Jinnah, H. A.

“…Genotype-phenotype correlations for most monogenic neurological disorders are incompletely understood. Fu et al. draw upon data on 615 HPRT mutations,…”
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Disorders of purine and pyrimidine metabolism by Nyhan, William L.

“…The disorders of purine and pyrimidine metabolism are unusual in their variety of clinical presentations and in the mechanisms by which these presentations…”
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The re‐occurrence of cardiomyopathy in propionic acidemia after liver transplantation by Berry, Gerard T., Blume, Elizabeth D., Wessel, Ann, Singh, Tajinder, Hecht, Leah, Marsden, Deborah, Sahai, Inderneel, Elisofon, Scott, Ferguson, Michael, Kim, Heung Bae, Harris, David J., Demirbas, Didem, Almuqbil, Mohammed, Nyhan, William L.

“…Cardiomyopathy is a frequent complication of propionic acidemia (PA). It is often fatal, and its occurrence is largely independent of classic metabolic…”
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The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases by Jinnah, H.A., De Gregorio, Laura, Harris, James C., Nyhan, William L., O’Neill, J.Patrick

“…In humans, mutations in the gene encoding the purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT) are associated with a spectrum of…”
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Domino liver transplantation in maple syrup urine disease by Khanna, Ajai, Hart, Marquis, Nyhan, William L., Hassanein, Tarek, Panyard‐Davis, Janice, Barshop, Bruce A.

“…Liver transplantation has been reported in a few cases of maple syrup urine disease (MSUD), but is controversial. Many patients with approved indications for…”
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Long-term follow-up of four patients affected by HHH syndrome by Kim, Sook Z., Song, Wung J., Nyhan, William L., Ficicioglu, Can, Mandell, Roseann, Shih, Vivian E.

“…In hyperornithinemia–hyperammonemia–homocitrullinemia (HHH) syndrome, impaired ornithine transport across the mitochondrial membrane causes ornithine…”
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CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency by Isackson, Paul J., Bennett, Michael J., Lichter-Konecki, Uta, Willis, Mary, Nyhan, William L., Sutton, V. Reid, Tein, Ingrid, Vladutiu, Georgirene D.

“…Three distinct clinical manifestations of carnitine palmitoyltransferase II (CPT II) deficiency have been defined including a mild adult onset myopathy, a…”
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effects of alanine ingestion on metabolic responses to exercise in cyclists by Klein, Janet, Nyhan, William L, Kern, Mark

“…The influence of alanine on plasma amino acid concentrations and fuel substrates as well as cycling performance was examined. Four solutions [6% alanine (ALA);…”
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Emergency management of inherited metabolic diseases by Prietsch, V., Lindner, M., Zschocke, J., Nyhan, W. L., Hoffmann, G. F.

“…Inherited metabolic diseases with acute severe manifestations can be divided into five categories: (1) disorders of the intoxication type, (2) disorders with…”
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Lesch-Nyhan Variant Syndrome: Real-Time RT-PCR for mRNA Quantification in Variable Presentation in Three Affected Family Members by Nguyen, Khue Vu, Naviaux, Robert K., Paik, Kacie K., Nakayama, Tomohiro, Nyhan, William L.

“…Inherited mutations of hypoxanthine guanine phosphoribosyltransferase (HPRT) give rise to Lesch-Nyhan syndrome (LNS) or variants (LNV). We report molecular…”
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Mitochondrial DNA polymerase γ deficiency and mtDNA depletion in a child with Alpers' syndrome by Naviaux, Robert K., Nyhan, William L., Barshop, Bruce A., Poulton, Joanna, Markusic, David, Karpinski, Nancy C., Haas, Richard H.

“…Deficiency of mitochondrial DNA polymerase γ activity was found in a patient with mtDNA depletion and Alpers' syndrome. Metabolic evaluation revealed fasting…”
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Thiamine phosphokinase deficiency and mutation in TPK1 presenting as biotin responsive basal ganglia disease by Nyhan, William L., McGowan, Karen, Barshop, Bruce A.

“…The product of thiamine phosphokinase is the cofactor for many enzymes, including the dehydrogenases of pyruvate, 2-ketoglutarate and branched chain ketoacids…”
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Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver by NYHAN, William L, GARGUS, J. Jay, BOYLE, Karen, SELBY, Rick, KOCH, Richard

“…Methylmalonic acidemia unresponsive to cobalamin is often fatal in infancy. Patients have been considered candidates for hepatic transplantation and experience…”
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behavioral aspects of lesch–nyhan disease and its variants by schretlen, david j, ward, julianna, meyer, stephen m, yun, jonathan, puig, juan g, nyhan, william l, jinnah, ha, harris, james c

“…self-injury is a defining feature of lesch–nyhan disease (lnd) but does not occur in the less severely affected lesch–nyhan variants (lnv). the aim of this…”
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The recognition of Lesch‐Nyhan syndrome as an inborn error of purine metabolism by Nyhan, W. L.

“…Lesch‐Nyhan syndrome was first described over thirty years ago. The original patient was a 4‐year‐old boy with neurological abnormalities as well as…”
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Developmental Disorder Associated with Increased Cellular Nucleotidase Activity by Page, Theodore, Yu, Alice, Fontanesi, John, Nyhan, William L.

“…Four unrelated patients are described with a syndrome that included developmental delay, seizures, ataxia, recurrent infections, severe language deficit, and…”
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