Establishing Pompe Disease Newborn Screening: The Role of Industry von Keutzer, Joan M

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Multiplex Enzyme Assay Screening of Dried Blood Spots for Lysosomal Storage Disorders by Using Tandem Mass Spectrometry von Zhang, X. Kate, Elbin, Carole S, Chuang, Wei-Lien, Cooper, Samantha K, Marashio, Carla A, Beauregard, Christa, Keutzer, Joan M

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Tandem mass spectrometry assay of β-glucocerebrosidase activity in dried blood spots eliminates false positives detected in fluorescence assay von Wolf, Pavlina, Alcalay, Roy N., Liong, Christopher, Cullen, Emmaline, Pauciulo, Michael W., Nichols, William C., Gan-Or, Ziv, Chung, Wendy K., Faulkner, Tina, Bentis, Christopher, Pomponio, Robert J., Ma, Xiwen, Kate Zhang, X., Keutzer, Joan M., Oliva, Petra

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How well does urinary lyso-Gb3 function as a biomarker in Fabry disease? von Auray-Blais, Christiane, Ntwari, Aimé, Clarke, Joe T R, Warnock, David G, Oliveira, João Paulo, Young, Sarah P, Millington, David S, Bichet, Daniel G, Sirrs, Sandra, West, Michael L, Casey, Robin, Hwu, Wuh-Liang, Keutzer, Joan M, Zhang, X Kate, Gagnon, René

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Multiplex Lysosomal Enzyme Activity Assay on Dried Blood Spots Using Tandem Mass Spectrometry von Zhang, X. Kate, Elbin, Carole S., Turecek, Frantisek, Scott, Ronald, Chuang, Wei-Lien, Keutzer, Joan M., Gelb, Michael

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Identification of Infants at Risk for Developing Fabry, Pompe, or Mucopolysaccharidosis-I from Newborn Blood Spots by Tandem Mass Spectrometry von Scott, C. Ronald, MD, Elliott, Susan, BS, Buroker, Norman, PhD, Thomas, Lauren I., MS, Keutzer, Joan, PhD, Glass, Michael, MS, Gelb, Michael H., PhD, Turecek, Frantisek, PhD

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Timing of diagnosis of patients with pompe disease: Data from the pompe registry von Kishnani, Priya S., Amartino, Hernán M., Lindberg, Christopher, Miller, Timothy M., Wilson, Amanda, Keutzer, Joan

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Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry von Kishnani, Priya S., Amartino, Hernán M., Lindberg, Christopher, Miller, Timothy M., Wilson, Amanda, Keutzer, Joan

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Lyso-sphingomyelin is elevated in dried blood spots of Niemann–Pick B patients von Chuang, Wei-Lien, Pacheco, Joshua, Cooper, Samantha, McGovern, Margaret M., Cox, Gerald F., Keutzer, Joan, Zhang, X. Kate

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Non-invasive screening method for Fabry disease by measuring globotriaosylceramide in whole urine samples using tandem mass spectrometry von Kitagawa, Teruo, Ishige, Nobuyuki, Suzuki, Ken, Owada, Misao, Ohashi, Toya, Kobayashi, Masahisa, Eto, Yoshikatsu, Tanaka, Akemi, Mills, Kevin, Winchester, Bryan, Keutzer, Joan

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Regulated Expression and Functional Role of the Transcription Factor CHOP (GADD153) in Erythroid Growth and Differentiation von Coutts, Margaret, Cui, Kunyuan, Davis, Kerry L., Keutzer, Joan Cleves, Sytkowski, Arthur J.

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Newborn screening of lysosomal storage disorders in Austria von Bodamer, Olaf A., MD, PhD, FACMG, Dajnoki, Angela, PhD, Fekete, György, MD, Keutzer, Joan, PhD, Orsini, Joseph, PhD, DeJesus, Victor R., PhD, Zhang, Kate, PhD, Mühl, Adolf, PhD

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34 Newborn screening for Krabbe disease von Orsini, Joseph J., Morrissey, Mark M., Helton, Laura, Saavedra, Carlos, Keutzer, Joan, Zhang, Kate X., Caggana, Michele

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Prostaglandin endoperoxide synthase (cyclooxygenase) mRNA and protein production in mouse myoblasts and a differentiation-defective variant von Steiner, Sheldon M., Keutzer, Joan Cleves, Hirschhorn, Ricky R.

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