نتائج البحث - Chapman, Kimberly A

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

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

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