Zoekresultaten - Chapman, Kimberly A

Gene expression in cell lines from Propionic acidemia patients, carrier parents, and controls door 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 door Dingley, Stephen, Chapman, Kimberly A., Falk, Marni J.

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

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LPIN1 rhabdomyolysis: A single site cohort description and treatment recommendations door 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 door 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? door 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 door 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. door 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 door 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 door 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 door 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 door 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 door 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 door 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 door 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 door 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 door 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 door 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. door 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 door 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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