Search Results - Chapman, Kimberly A

Gene expression in cell lines from Propionic acidemia patients, carrier parents, and controls by Chapman, Kimberly A, Bush, William S., Zhang, Zhe

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Fluorescence-Activated Cell Sorting Analysis of Mitochondrial Content, Membrane Potential, and Matrix Oxidant Burden in Human Lymphoblastoid Cell Lines by Dingley, Stephen, Chapman, Kimberly A., Falk, Marni J.

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Propionyl-CoA Carboxylase- A Review by Wongkittichote, Parith, Mew, Nicholas Ah, Chapman, Kimberly A

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LPIN1 rhabdomyolysis: A single site cohort description and treatment recommendations by Kanderi, Navya, Kirmse, Brian, Regier, Debra S., Chapman, Kimberly A.

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Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data by Chapman, Kimberly A., Gramer, Gwendolyn, Viall, Sarah, Summar, Marshall L.

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Do the data really support ordering fragile X testing as a first-tier test without clinical features? by Weinstein, Veronique, Tanpaiboon, Pranoot, Chapman, Kimberly A, Ah Mew, Nicholas, Hofherr, Sean

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Severe nasomaxillary hypoplasia (Binder phenotype) on prenatal US/MRI: an important marker for the prenatal diagnosis of chondrodysplasia punctata by Blask, Anna R., Rubio, Eva I., Chapman, Kimberly A., Lawrence, Anne K., Bulas, Dorothy I.

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Tricarboxylic acid cycle enzyme activities in a mouse model of methylmalonic aciduria. by Wongkittichote, Parith, Cunningham, Gary, Summar, Marshall L., Pumbo, Elena, Forny, Patrick, Baumgartner, Matthias R., Chapman, Kimberly A.

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Concurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy by Kruszka, Paul S., Kirmse, Brian, Zand, Dina J., Cusmano-Ozog, Kristina, Spector, Elaine, Van Hove, Johan L., Chapman, Kimberly A.

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Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2 by Xiao, Changrui, Astiazaran-Symonds, Esteban, Basu, Shrabani, Kisling, Monisha, Scaglia, Fernando, Chapman, Kimberly A., Wang, Yudong, Vockley, Jerry, Ferreira, Carlos R.

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Propionyl-CoA carboxylase pcca-1 and pccb-1 gene deletions in Caenorhabditis elegans globally impair mitochondrial energy metabolism by Chapman, Kimberly A., Ostrovsky, Julian, Rao, Meera, Dingley, Stephen D., Polyak, Erzsebet, Yudkoff, Marc, Xiao, Rui, Bennett, Michael J., Falk, Marni J.

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Inter-relations between 3-hydroxypropionate and propionate metabolism in rat liver: relevance to disorders of propionyl-CoA metabolism by Wilson, Kirkland A., Han, Yong, Zhang, Miaoqi, Hess, Jeremy P., Chapman, Kimberly A., Cline, Gary W., Tochtrop, Gregory P., Brunengraber, Henri, Zhang, Guo-Fang

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Mosaic Trisomy 17: Variable Clinical and Cytogenetic Presentation by Daber, Robert D., Chapman, Kimberly A., Ruchelli, Eduardo, Kasperski, Stefanie, Mulchandani, Surabhi, Thiel, Brian D., Hakonarson, Hakon, Zackai, Elaine H., Conlin, Laura K., Spinner, Nancy B.

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Biochemical and Anaplerotic Applications of In Vitro Models of Propionic Acidemia and Methylmalonic Acidemia Using Patient-Derived Primary Hepatocytes by Collado, M. Sol, Armstrong, Allison J., Olson, Matthew, Hoang, Stephen A., Day, Nathan, Summar, Marshall, Chapman, Kimberly A., Reardon, John, Figler, Robert A., Wamhoff, Brian R.

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Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies by Fraser, Jamie L., Vanderver, Adeline, Yang, Sandra, Chang, Taeun, Cramp, Laura, Vezina, Gilbert, Lichter-Konecki, Uta, Cusmano-Ozog, Kristina P., Smpokou, Patroula, Chapman, Kimberly A., Zand, Dina J.

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A de novo 8.8-Mb Deletion of 21q21.1-q21.3 in an Autistic Male with a Complex Rearrangement Involving Chromosomes 6, 10, and 21 by Haldeman-Englert, Chad R., Chapman, Kimberly A., Kruger, Hillary, Geiger, Elizabeth A., McDonald-McGinn, Donna M., Rappaport, Eric, Zackai, Elaine H., Spinner, Nancy B., Shaikh, Tamim H.

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Recapitulation of metabolic defects in a model of propionic acidemia using patient-derived primary hepatocytes by Chapman, Kimberly A., Collado, Maria S., Figler, Robert A., Hoang, Stephen A., Armstrong, Allison J., Cui, Wanxing, Purdy, Michael, Simmers, Michael B., Yazigi, Nada A., Summar, Marshall L., Wamhoff, Brian R., Dash, Ajit

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Acute Management of Propionic Acidemia by Chapman, Kimberly A, Gropman, Andrea, MacLeod, Erin, Stagni, Kathy, Summar, Marshall L., Ueda, Keiko, Mew, Nicholas Ah, Franks, Jill, Island, Eddie, Matern, Dietrich, Pena, Loren, Smith, Brittany, Sutton, V. Reid, Urv, Tiina, Venditti, Charles, Chakrapani, Anupam

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A Novel Small Molecule Approach for the Treatment of Propionic and Methylmalonic Acidemias. by Armstrong, Allison J, Collado, Maria Sol, Henke, Brad R, Olson, Matthew W, Hoang, Steve A, Hamilton, Christin A, Pourtaheri, Taylor D, Chapman, Kimberly A, Summar, Marshall M, Johns, Brian A, Wamhoff, Brian R, Reardon, John E, Figler, Robert A

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Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision by Forny, Patrick, Hörster, Friederike, Ballhausen, Diana, Chakrapani, Anupam, Chapman, Kimberly A., Dionisi‐Vici, Carlo, Dixon, Marjorie, Grünert, Sarah C., Grunewald, Stephanie, Haliloglu, Goknur, Hochuli, Michel, Honzik, Tomas, Karall, Daniela, Martinelli, Diego, Molema, Femke, Sass, Jörn Oliver, Scholl‐Bürgi, Sabine, Tal, Galit, Williams, Monique, Huemer, Martina, Baumgartner, Matthias R.

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