檢索結果 - Chapman, Kimberly A

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

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

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