Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: Lessons learned from 10 years of clinical laboratory testing experience
Bali, Deeksha S., Goldstein, Jennifer L., Banugaria, Suhrad, Dai, Jian, Mackey, Joanne, Rehder, Catherine, Kishnani, Priya S.
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.02.2012)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.02.2012)
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Cardiac arrhythmias following anesthesia induction in infantile-onset Pompe disease: a case series
WANG, LUKE Y.-J., ROSS, ALLISON K., LI, JENNIFER S., DEARMEY, STEPHANIE M., MACKEY, JOANNE F., WORDEN, MARYALICE, CORZO, DEYANIRA, MORGAN, CLAIRE, KISHNANI, PRIYA S.
Published in Pediatric anesthesia (01.08.2007)
Published in Pediatric anesthesia (01.08.2007)
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Acute abdominal symptoms and signs in children and young adults with spina bifida: Ten years' experience
Worley, Gordon, Wiener, John S., George, Timothy M., Fuchs, Herbert E., Mackey, Joanne F., Fitch, Robert D., Oldham, Keith T.
Published in Journal of pediatric surgery (01.09.2001)
Published in Journal of pediatric surgery (01.09.2001)
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Persistence of high sustained antibodies to enzyme replacement therapy despite extensive immunomodulatory therapy in an infant with Pompe disease: Need for agents to target antibody-secreting plasma cells
Banugaria, Suhrad G., Patel, Trusha T., Mackey, Joanne, Das, Stuti, Amalfitano, Andrea, Rosenberg, Amy S., Charrow, Joel, Chen, Y.-T., Kishnani, Priya S.
Published in Molecular genetics and metabolism (01.04.2012)
Published in Molecular genetics and metabolism (01.04.2012)
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Pompe disease diagnosis and management guideline
Kishnani, Priya S, Steiner, Robert D, Bali, Deeksha, Berger, Kenneth, Byrne, Barry J, Case, Laura E, Case, Laura, Crowley, John F, Downs, Steven, Howell, R Rodney, Kravitz, Richard M, Mackey, Joanne, Marsden, Deborah, Martins, Anna Maria, Millington, David S, Nicolino, Marc, O'Grady, Gwen, Patterson, Marc C, Rapoport, David M, Slonim, Alfred, Spencer, Carolyn T, Tifft, Cynthia J, Watson, Michael S
Published in Genetics in medicine (01.05.2006)
Published in Genetics in medicine (01.05.2006)
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Recombinant human acid ??-glucosidase enzyme therapy for infantile glycogen storage disease type II: Results of a phase I/II clinical trial
Amalfitano, Andrea, Bengur, A. Resai, Morse, Richard P., Majure, Joseph M., Case, Laura E., Veerling, Deborah L., Mackey, Joanne, Kishnani, Priya, Smith, Wendy, McVie-Wylie, Alison, Sullivan, Jennifer A., Hoganson, George E., Phillips, John A., Schaefer, G. Bradley, Charrow, Joel, Ware, Russell E., Bossen, Edward H., Chen, Yuan-Tsong
Published in Genetics in medicine (01.03.2001)
Published in Genetics in medicine (01.03.2001)
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An individually, modified approach to desensitize infants and young children with Pompe disease, and significant reactions to alglucosidase alfa infusions
El-Gharbawy, Areeg H., Mackey, Joanne, DeArmey, Stephanie, Westby, Greg, Grinnell, Sherry G., Malovrh, Peggy, Conway, Robert, Kishnani, Priya S.
Published in Molecular genetics and metabolism (01.09.2011)
Published in Molecular genetics and metabolism (01.09.2011)
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Journal Article
Predicting Cross Reactive Immunological Material (CRIM) Status in Pompe Disease Using GAA Mutations: Lessons Learned from 10 Years of Clinical Laboratory Testing Experience
Bali, Deeksha, Goldstein, Jennifer, Banugaria, Suhrad, Dai, Jian, Mackey, Joanne, Rehder, Catherine, Kishnani, Priya
Published in Molecular genetics and metabolism (01.02.2012)
Published in Molecular genetics and metabolism (01.02.2012)
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Further evidence for a maternal genetic effect and a sex-influenced effect contributing to risk for human neural tube defects
Deak, Kristen L, Siegel, Deborah G, George, Timothy M, Gregory, Simon, Ashley-Koch, Allison, Speer, Marcy C
Published in Birth defects research. A Clinical and molecular teratology (01.10.2008)
Published in Birth defects research. A Clinical and molecular teratology (01.10.2008)
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Improvement with ongoing Enzyme Replacement Therapy in advanced late-onset Pompe disease: A case study
Case, Laura E., Koeberl, Dwight D., Young, Sarah P., Bali, Deeksha, DeArmey, Stephanie M., Mackey, Joanne, Kishnani, Priya S.
Published in Molecular genetics and metabolism (01.12.2008)
Published in Molecular genetics and metabolism (01.12.2008)
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The clinical phenotype of Long-term infantile Pompe disease survivors
Prater, Sean, Banugaria, Suhrad, Mackey, Joanne, Canfield, Michelle, Case, Laura, DeArmey, Stephanie, Kishnani, Priya
Published in Molecular genetics and metabolism (01.02.2011)
Published in Molecular genetics and metabolism (01.02.2011)
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Journal Article
Predicting Cross-Reactive Immunological Material (CRIM) Status in Pompe Disease Using GAA Mutations: Lessons Learned From 10 Years of Clinical Laboratory Testing Experience: Advancements in Pompe Disease
BALI, Deeksha S, GOLDSTEIN, Jennifer L, BANUGARIA, Suhrad, JIAN DAI, MACKEY, Joanne, REHDER, Catherine, KISHNANI, Priya S
Published in American journal of medical genetics. Part C, Seminars in medical genetics (2012)
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Published in American journal of medical genetics. Part C, Seminars in medical genetics (2012)
Journal Article
74. Immunological aspects of treatment of Pompe disease
Kishnani, Priya, Banugaria, Suhrad, DeArmey, Stephanie, Mackey, Joanne, Young, Sarah, Bali, Deeksha, Koeberl, Dwight, Rosenberg, Amy, Messinger, Yoav, Mendelsohn, Nancy, Rhead, William, Chen, Y.T.
Published in Molecular genetics and metabolism (01.02.2010)
Published in Molecular genetics and metabolism (01.02.2010)
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Fractures in children with Pompe disease: a potential long-term complication
Case, Laura E, Hanna, Rabi, Frush, Donald P, Krishnamurthy, Vidya, DeArmey, Stephanie, Mackey, Joanne, Boney, Anne, Morgan, Claire, Corzo, Deyanira, Bouchard, Susan, Weber, Thomas J, Chen, Yuan-Tsong, Kishnani, Priya S
Published in Pediatric radiology (01.05.2007)
Published in Pediatric radiology (01.05.2007)
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Journal Article
Fractures in children with Pompe disease: a potentiallong-term complication
Case, Laura E., Hanna, Rabi, Frush, Donald P., Krishnamurthy, Vidya, DeArmey, Stephanie, Mackey, Joanne, Boney, Anne, Morgan, Claire, Corzo, Deyanira, Bouchard, Susan, Weber, Thomas J., Chen, Yuan-Tsong, Kishnani, Priya S.
Published in Pediatric radiology (01.05.2007)
Published in Pediatric radiology (01.05.2007)
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Analysis of ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2 in human neural tube defects suggests a possible association with alleles in ALDH1A2
Deak, Kristen L, Dickerson, Margaret E, Linney, Elwood, Enterline, David S, George, Timothy M, Melvin, Elizabeth C, Graham, Felicia L, Siegel, Deborah G, Hammock, Preston, Mehltretter, Lorraine, Bassuk, Alexander G, Kessler, John A, Gilbert, John R, Speer, Marcy C
Published in Birth defects research. A Clinical and molecular teratology (01.11.2005)
Published in Birth defects research. A Clinical and molecular teratology (01.11.2005)
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Refinement of 2q and 7p loci in a large multiplex NTD family
Stamm, Demetra S, Siegel, Deborah G, Mehltretter, Lorraine, Connelly, Jessica J, Trott, Alison, Ellis, Nathen, Zismann, Victoria, Stephan, Dietrich A, George, Timothy M, Vekemans, Michel, Ashley-Koch, Allison, Gilbert, John R, Gregory, Simon G, Speer, Marcy C
Published in Birth defects research. A Clinical and molecular teratology (01.06.2008)
Published in Birth defects research. A Clinical and molecular teratology (01.06.2008)
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SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects
DEAK, Kristen L, BOYLES, Abee L, MCCLAY, David, BASSUK, Alexander G, KESSLER, John A, LINNEY, Elwood, GILBERT, John R, SPEER, Marcy C, ETCHEVERS, Heather C, MELVIN, Elizabeth C, SIEGEL, Deborah G, GRAHAM, Felicia L, SLIFER, Susan H, ENTERLINE, David S, GEORGE, Timothy M, VEKEMANS, Michel
Published in Human genetics (01.07.2005)
Published in Human genetics (01.07.2005)
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