Search Results - "Poskanzer, Sheri A."

Immune dysfunction in MGAT2‐CDG: A clinical report and review of the literature by Poskanzer, Sheri A., Schultz, Matthew J., Turgeon, Coleman T., Vidal‐Folch, Noemi, Liedtke, Kris, Oglesbee, Devin, Gavrilov, Dimitar K., Tortorelli, Silvia, Matern, Dietrich, Rinaldo, Piero, Bennett, James T., Thies, Jenny M., Chang, Irene J., Beck, Anita E., Raymond, Kimiyo, Allenspach, Eric J., Lam, Christina

“…Glycosylation is a critical post/peri‐translational modification required for the appropriate development and function of the immune system. As an example,…”
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p.P1379S, a benign variant with reduced ATP7B protein level in Wilson Disease by Yi, Fan, Poskanzer, Sheri A., Myers, Candace T., Thies, Jenny, Collins, Christopher J., Dayuha, Remwilyn, Duong, Phi, Houwen, Roderick, Hahn, Si Houn

“…Background Wilson disease (WD) is an autosomal recessive disorder of copper transport caused by inherited defects in the ATP7B gene and results in toxic…”
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The co‐occurrence of Wilson disease and X‐linked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysis by Poskanzer, Sheri A., Thies, Jenny, Collins, Christopher J., Myers, Candace T., Dayuha, Remwilyn, Duong, Phi, Yi, Fan, Chang, Irene J., Ochs, Hans D., Torgerson, Troy R., Hahn, Si Houn

“…Background We report the first case of a family with co‐occurrence of Wilson disease (WD), an autosomal recessive disorder of copper metabolism, and X‐linked…”
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Feeding difficulty and gastrostomy tube placement in infants with Down syndrome by Poskanzer, Sheri A., Hobensack, Victoria L., Ciciora, Steven L., Santoro, Stephanie L.

“…The objectives of this study were to determine if any specific clinical signs, symptoms, or comorbidities could reliably predict underlying feeding difficulty…”
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Vosoritide approved for treatment of linear growth in pediatric patients with achondroplasia: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG) by Poskanzer, Sheri A., Peña, Loren D.M., Niu, Zhiyv

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Fractionated plasma N‐glycan profiling of novel cohort of ATP6AP1‐CDG subjects identifies phenotypic association by Alharbi, Hana, Daniel, Earnest James Paul, Thies, Jenny, Chang, Irene, Goldner, Dana L., Ng, Bobby G., Witters, Peter, Aqul, Amal, Velez‐Bartolomei, Frances, Enns, Gregory M., Hsu, Evelyn, Kichula, Elizabeth, Lee, Esther, Lourenco, Charles, Poskanzer, Sheri A., Rasmussen, Sara, Saarela, Katelyn, Wang, YunZu M., Raymond, Kimiyo M., Schultz, Matthew J., Freeze, Hudson H., Lam, Christina, Edmondson, Andrew C., He, Miao

“…ATP6AP1‐CDG is an X‐linked disorder typically characterized by hepatopathy, immunodeficiency, and an abnormal type II transferrin glycosylation pattern. Here,…”
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Olipudase alfa approved for pediatric and adult patients with acid sphingomyelinase deficiency (ASMD): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG) by Penon-Portmann, Monica, Poskanzer, Sheri A., Ganesh, Jaya, Chang, Irene

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Casgevy (exagamglogene autotemcel) and Lyfgenia (lovotibeglogene autotemcel) for individuals 12 years and older with sickle cell disease (SCD) and recurrent vaso-occlusive crises (VOC): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG) by Lesmana, Harry, Kim, Sun Young, Corado, Andrés Morales, Poskanzer, Sheri A.

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p. P1379S , a benign variant with reduced ATP7B protein level in Wilson Disease by Yi, Fan, Poskanzer, Sheri A., Myers, Candace T., Thies, Jenny, Collins, Christopher J., Dayuha, Remwilyn, Duong, Phi, Houwen, Roderick, Hahn, Si Houn

“…Abstract Background Wilson disease (WD) is an autosomal recessive disorder of copper transport caused by inherited defects in the ATP7B gene and results in…”
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Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature by Poskanzer, Sheri A, Schultz, Matthew J, Turgeon, Coleman T, Vidal-Folch, Noemi, Liedtke, Kris, Oglesbee, Devin, Gavrilov, Dimitar K, Tortorelli, Silvia, Matern, Dietrich, Rinaldo, Piero, Bennett, James T, Thies, Jenny M, Chang, Irene J, Beck, Anita E, Raymond, Kimiyo, Allenspach, Eric J, Lam, Christina

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