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

Volltext

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

Volltext

Development and Evaluation of Quality Control Dried Blood Spot Materials in Newborn Screening for Lysosomal Storage Disorders von De Jesus, Victor R, Zhang, X. Kate, Keutzer, Joan, Bodamer, Olaf A, Muhl, Adolf, Orsini, Joseph J, Caggana, Michele, Vogt, Robert F, Hannon, W. Harry

Volltext

Lysosomal storage disorder 4+1 multiplex assay for newborn screening using tandem mass spectrometry: Application to a small-scale population study for five lysosomal storage disord... von Orsini, Joseph J., Martin, Monica M., Showers, Amanda L., Bodamer, Olaf A., Zhang, X. Kate, Gelb, Michael H., Caggana, Michele

Volltext

The effect of preparation, storage and shipping of dried blood spots on the activity of five lysosomal enzymes von Elbin, Carole S., Olivova, Petra, Marashio, Carla A., Cooper, Samantha K., Cullen, Emmaline, Keutzer, Joan M., Zhang, X. Kate

Volltext

Direct Liquid Chromatography/Mass Spectrometry Analysis for Complete Characterization of Recombinant Adeno-Associated Virus Capsid Proteins von Jin, Xiaoying, Liu, Lin, Nass, Shelley, O'Riordan, Catherine, Pastor, Eric, Zhang, X Kate

Volltext

Implementation of newborn screening for Krabbe disease: Population study and cutoff determination von Orsini, Joseph J., Morrissey, Mark A., Slavin, Laura N., Wojcik, Matthew, Biski, Chad, Martin, Monica, Keutzer, Joan, Zhang, X. Kate, Chuang, Wei-Lien, Elbin, Carole, Caggana, Michele

Volltext

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

Volltext

Determination of psychosine concentration in dried blood spots from newborns that were identified via newborn screening to be at risk for Krabbe disease von Chuang, Wei-Lien, Pacheco, Josh, Zhang, X. Kate, Martin, Monica M., Biski, Chad K., Keutzer, Joan M., Wenger, David A., Caggana, Michele, Orsini, Joseph J.

Volltext

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

Volltext

Newborn Screening for Pompe Disease by Measuring Acid α-Glucosidase Activity Using Tandem Mass Spectrometry von DAJNOKI, Angéla, MÜHL, Adolf, FEKETE, György, KEUTZER, Joan, ORSINI, Joe, DEJESUS, Victor, ZHANG, X. Kate, BODAMER, Olaf A

Volltext

Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry von Dajnoki, Angéla, Fekete, György, Keutzer, Joan, Orsini, Joseph J., De Jesus, Victor R., Chien, Yin-Hsiu, Hwu, Wuh-Liang, Lukacs, Zoltan, Mühl, Adolf, Zhang, X. Kate, Bodamer, Olaf

Volltext

Lysosomal Acid α-Glucosidase Consists of Four Different Peptides Processed from a Single Chain Precursor von Moreland, Rodney J., Jin, Xiaoying, Zhang, X. Kate, Decker, Roger W., Albee, Karen L., Lee, Karen L., Cauthron, Robert D., Brewer, Kevin, Edmunds, Tim, Canfield, William M.

Volltext

Effect of sample collection on α-galactosidase A enzyme activity measurements in dried blood spots on filter paper von Olivova, Petra, der Veen, Kristen van, Cullen, Emmaline, Rose, Michael, Zhang, X. Kate, Sims, Katherine B., Keutzer, Joan, Browning, Marsha F.

Volltext

Analysis of glucocerebrosidase activity in dry blood spots using tandem mass spectrometry von Legini, Elisa, Orsini, Joseph J., Hung, Christina, Martin, Monica, Showers, Amanda, Scarpa, Maurizio, Zhang, X Kate, Keutzer, Joan, Mühl, Adolf, Bodamer, Olaf A.

Volltext

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

Volltext

Newborn Screening for Pompe Disease by Measuring Acid {alpha}-Glucosidase Activity Using Tandem Mass Spectrometry von Dajnoki, Angela, Muhl, Adolf, Fekete, Gyorgy, Keutzer, Joan, Orsini, Joe, DeJesus, Victor, Zhang, X. Kate, Bodamer, Olaf A

Volltext

Liquid chromatography-tandem mass spectrometry quantification of globotriaosylceramide in plasma for long-term monitoring of fabry patients treated with enzyme replacement therapy von RODDY, Thomas P, NELSON, Bryant C, SUNG, Crystal C. C, ARAGHI, Shaparak, WILKENS, Dennis, ZHANG, X. Kate, THOMAS, John J, RICHARDS, Susan M

Volltext

Electrospray mass spectrum of a per(onio)-substituted benzene: Retention of coulombic charge upon collisionally activated decomposition von Kate Zhang, X., Fales, Henry M.

Volltext

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

Volltext