Laboratory analysis of acylcarnitines, 2020 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG) von Miller, Marcus J., Cusmano-Ozog, Kristina, Oglesbee, Devin, Young, Sarah

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MT‐ATP6 mitochondrial disease identified by newborn screening reveals a distinct biochemical phenotype von Tise, Christina G., Verscaj, Courtney P., Mendelsohn, Bryce A., Woods, Jeremy, Lee, Chung U., Enns, Gregory M., Stander, Zinandré, Hall, Patricia L., Cowan, Tina M., Cusmano‐Ozog, Kristina P.

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A homozygous Gly470Ala variant in PEX6 causes severe Zellweger spectrum disorder von Galarreta, Carolina I., Wong, Karen, Carmichael, Jason, Woods, Jeremy, Tise, Christina G., Niehaus, Annie D., Schildt, Alison J., Verscaj, Courtney P., Cusmano‐Ozog, Kristina P.

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Neonatal lupus is a novel cause of positive newborn screening for X‐linked adrenoleukodystrophy von Niehaus, Annie D., Mendelsohn, Bryce A., Zimmerman, Bree, Lee, Chung U., Manning, Melanie A., Cusmano‐Ozog, Kristina P., Tise, Christina G.

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Aicardi‐Goutières syndrome may present with positive newborn screen for X‐linked adrenoleukodystrophy von Tise, Christina G., Morales, Jose Andres, Lee, Ariel S., Velez‐Bartolomei, Frances, Floyd, Brendan J., Levy, Rebecca J., Cusmano‐Ozog, Kristina P., Feigenbaum, Annette S., Ruzhnikov, Maura R. Z., Lee, Chung U., Enns, Gregory M.

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Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry von Billington, Charles J., Chapman, Kimberly A., Leon, Eyby, Meltzer, Beatrix W., Berger, Seth I., Olson, Matthew, Figler, Robert A., Hoang, Steve A., Wanxing, Cui, Wamhoff, Brian R., Collado, M. Sol, Cusmano‐Ozog, Kristina

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Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2 von Zarate, Yuri A., Bosanko, Katherine A., Thomas, Mary Ann, Miller, David T., Cusmano‐Ozog, Kristina, Martinez‐Monseny, Antonio, Curry, Cynthia J., Graham, John M., Velsher, Lea, Bekheirnia, Mir Reza, Seidel, Veronica, Dedousis, Demitrios, Mitchell, Anna L., DiMarino, Amy M., Riess, Angelika, Balasubramanian, Meena, Fish, Jennifer L., Caffrey, Aisling R., Fleischer, Nicole, Pierson, Tyler Mark, Lacro, Ronald V.

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Recent tPA administration can cause pseudo‐hyperargininemia and may mimic arginase deficiency or arginine supplementation von Cusmano‐Ozog, Kristina P., Renck, Alicia K., Tise, Christina G.

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A rapid, sensitive method for quantitative analysis of underivatized amino acids by liquid chromatography–tandem mass spectrometry (LC–MS/MS) von Le, Anthony, Ng, Angelina, Kwan, Tony, Cusmano-Ozog, Kristina, Cowan, Tina M.

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Clinical and molecular spectrum of CHOPS syndrome von Raible, Sarah E., Mehta, Devanshi, Bettale, Chiara, Fiordaliso, Sarah, Kaur, Maninder, Medne, Livija, Rio, Marlene, Haan, Eric, White, Susan M., Cusmano‐Ozog, Kristina, Nishi, Eriko, Guo, Yiran, Wu, Honglin, Shi, Xiaoqing, Zhao, Qingjie, Zhang, Xueqin, Lei, Qi, Lu, Aimei, He, Xiyu, Okamoto, Nobuhiko, Miyake, Noriko, Piccione, Joseph, Allen, Julian, Matsumoto, Naomichi, Pipan, Mary, Krantz, Ian D., Izumi, Kosuke

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Hereditary fructose intolerance mimicking a biochemical phenotype of mucolipidosis: A review of the literature of secondary causes of lysosomal enzyme activity elevation in serum von Ferreira, Carlos R., Devaney, Joseph M., Hofherr, Sean E., Pollard, Laura M., Cusmano‐Ozog, Kristina

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Molecular testing in newborn screening: VUS burden among true positives and secondary reproductive limitations via expanded carrier screening panels von Cook, Sabina, Dunn, Emily, Kornish, Jenna, Calderwood, Laurel, Campion, MaryAnn, Cusmano-Ozog, Kristina P., Tise, Christina G.

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Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia von Manoli, Irini, Sysol, Justin R., Li, Lingli, Houillier, Pascal, Garone, Caterina, Wang, Cindy, Zerfas, Patricia M., Cusmano-Ozog, Kristina, Young, Sarah, Trivedi, Niraj S., Cheng, Jun, Sloan, Jennifer L., Chandler, Randy J., Abu-Asab, Mones, Tsokos, Maria, Elkahloun, Abdel G., Rosen, Seymour, Enns, Gregory M., Berry, Gerard T., Hoffmann, Victoria, DiMauro, Salvatore, Schnermann, Jurgen, Venditti, Charles P.

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P030: Expanding the differential for 2,3-dihydoxy-2-methylbutyric aciduria von Niehaus, Annie, Tahata, Shawn, Cowan, Tina, Cusmano-Ozog, Kristina

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The role of vanin-1 and oxidative stress–related pathways in distinguishing acute and chronic pediatric ITP von Zhang, Bing, Lo, Clara, Shen, Lei, Sood, Ruchira, Jones, Carol, Cusmano-Ozog, Kristina, Park-Snyder, Shaun, Wong, Wendy, Jeng, Michael, Cowan, Tina, Engleman, Edgar G., Zehnder, James L.

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Degree of glutathione deficiency and redox imbalance depend on subtype of mitochondrial disease and clinical status von Enns, Gregory M, Moore, Tereza, Le, Anthony, Atkuri, Kondala, Shah, Monisha K, Cusmano-Ozog, Kristina, Niemi, Anna-Kaisa, Cowan, Tina M

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Plasma fibroblast growth factor-21 levels in patients with inborn errors of metabolism von Kirmse, Brian, Cabrerra-Luque, Juan, Ayyub, Omar, Cusmano, Kristina, Chapman, Kimberly, Summar, Marshall

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Neonatal lupus can be a cause of a positive newborn screen for adrenoleukodystrophy von Cusmano-Ozog, Kristina

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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 von 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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Diagnosis of LCHAD/TFP deficiency in an at risk newborn using umbilical cord blood acylcarnitine analysis von Raval, Donna B., Cusmano-Ozog, Kristina P., Ayyub, Omar, Jenevein, Callie, Kofman, Laura H., Lanpher, Brendan, Hauser, Natalie, Regier, Debra S.

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