Søgeresultater - Ahrens-Nicklas, Rebecca

Heal thyself: The promise of autologous hematopoietic stem cell gene therapy in neurometabolic disorders af Ahrens-Nicklas, Rebecca C.

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Anthropomorphizing the Mouse Cardiac Action Potential via a Novel Dynamic Clamp Method af Ahrens-Nicklas, Rebecca C., Christini, David J.

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Brain Branched-Chain Amino Acids in Maple Syrup Urine Disease: Implications for Neurological Disorders af Xu, Jing, Jakher, Youseff, Ahrens-Nicklas, Rebecca C.

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Morbidity and mortality among exclusively breastfed neonates with medium-chain acyl-CoA dehydrogenase deficiency af Ahrens-Nicklas, Rebecca C., Pyle, Louise C., Ficicioglu, Can

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Re-evaluating the efficacy of β-adrenergic agonists and antagonists in long QT-3 syndrome through computational modelling af Ahrens-Nicklas, Rebecca C., Clancy, Colleen E., Christini, David J.

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Cobalamin C Disease Missed by Newborn Screening in a Patient with Low Carnitine Level af Ahrens-Nicklas, Rebecca C., Serdaroglu, Esra, Muraresku, Colleen, Ficicioglu, Can

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Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification af Schlotawa, Lars, Adang, Laura A., Radhakrishnan, Karthikeyan, Ahrens-Nicklas, Rebecca C.

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Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening af Ahrens-Nicklas, Rebecca C., Ganetzky, Rebecca D., Rush, Peggy W., Conway, Robert L., Ficicioglu, Can

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Severe Hyperammonemia in a Neonate: An Alternate Ending af Sheppard, Sarah, Herrick, Heidi, Ahrens-Nicklas, Rebecca C., Cohen, Jennifer L., Flibbotte, John, Pyle, Louise C.

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ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis af Ganetzky, Rebecca D., Bloom, Kaitlyn, Ahrens-Nicklas, Rebecca, Edmondson, Andrew, Deardorff, Matthew A., Bennett, Michael J., Ficicioglu, Can

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Variants in NAA15 cause pediatric hypertrophic cardiomyopathy af Ritter, Alyssa, Berger, Justin H., Deardorff, Matthew, Izumi, Kosuke, Lin, Kimberly Y., Medne, Livija, Ahrens-Nicklas, Rebecca C.

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Molecular Annotation of Integrative Feeding Neural Circuits af Pérez, Cristian A., Stanley, Sarah A., Wysocki, Robert W., Havranova, Jana, Ahrens-Nicklas, Rebecca, Onyimba, Frances, Friedman, Jeffrey M.

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Neuronal network dysfunction precedes storage and neurodegeneration in a lysosomal storage disorder af Ahrens-Nicklas, Rebecca C., Tecedor, Luis, Hall, Arron F., Lysenko, Elena, Cohen, Akiva S., Davidson, Beverly L., Marsh, Eric D.

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Efficacy of early treatment in patients with cobalamin C disease identified by newborn screening: a 16-year experience af Ahrens-Nicklas, Rebecca C., Whitaker, Ashley M., Kaplan, Paige, Cuddapah, Sanmati, Burfield, Jessica, Blair, Jennifer, Brochi, Ligia, Yudkoff, Marc, Ficicioglu, Can

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Imaging of non-neuronopathic Gaucher disease: recent advances in quantitative imaging and comprehensive assessment of disease involvement af Degnan, Andrew J., Ho-Fung, Victor M., Ahrens-Nicklas, Rebecca C., Barrera, Christian A., Serai, Suraj D., Wang, Dah-Jyuu, Ficicioglu, Can

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Genetic Variant Burden and Adverse Outcomes in Pediatric Cardiomyopathy af Burstein, Danielle S., Gaynor, J. William, Griffis, Heather, Ritter, Alyssa, O’Connor, Matthew J., Rossano, Joseph W., Lin, Kimberly Y., Ahrens-Nicklas, Rebecca C.

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Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing af Bhoj, Elizabeth J., Yu, Zhenming, Guan, Qiaoning, Ahrens-Nicklas, Rebecca, Cao, Kajia, Luo, Minjie, Tischler, Tanya, Deardorff, Matthew A., Zackai, Elaine, Santani, Avni B.

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Neuronal genetic rescue normalizes brain network dynamics in a lysosomal storage disorder despite persistent storage accumulation af Ahrens-Nicklas, Rebecca C., Tecedor, Luis, Hall, Arron F., Kane, Owen, Chung, Richard J., Lysenko, Elena, Marsh, Eric D., Stein, Colleen S., Davidson, Beverly L.

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The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening af Priestley, Jessica R. C., Alharbi, Hana, Callahan, Katharine Press, Guzman, Herodes, Payan-Walters, Irma, Smith, Ligia, Ficicioglu, Can, Ganetzky, Rebecca D., Ahrens-Nicklas, Rebecca C.

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Postnatal Arx transcriptional activity regulates functional properties of PV interneurons af Joseph, Donald J., Von Deimling, Markus, Hasegawa, Yuiko, Cristancho, Ana G., Ahrens-Nicklas, Rebecca C., Rogers, Stephanie L., Risbud, Rashmi, McCoy, Almedia J., Marsh, Eric D.

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