Five-year efficacy and safety of asfotase alfa therapy for adults and adolescents with hypophosphatasia
Kishnani, Priya S., Rockman-Greenberg, Cheryl, Rauch, Frank, Bhatti, M. Tariq, Moseley, Scott, Denker, Andrew E., Watsky, Eric, Whyte, Michael P.
Published in Bone (New York, N.Y.) (01.04.2019)
Published in Bone (New York, N.Y.) (01.04.2019)
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Journal Article
Basilar artery aneurysm: A new finding in classic infantile pompe disease
Patel, Trusha T., Banugaria, Suhrad G., Frush, Donald P., Enterline, David S., Tanpaiboon, Pranoot, Kishnani, Priya S.
Published in Muscle & nerve (01.04.2013)
Published in Muscle & nerve (01.04.2013)
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Journal Article
Clinical and histologic ocular findings in pompe disease
Yanovitch, Tammy L, Banugaria, Suhrad G, Proia, Alan D, Kishnani, Priya S
Published in Journal of pediatric ophthalmology and strabismus (01.01.2010)
Published in Journal of pediatric ophthalmology and strabismus (01.01.2010)
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Journal Article
Echocardiographic manifestations of Glycogen Storage Disease III: Increase in wall thickness and left ventricular mass over time
Vertilus, Shawyntee M., Austin, Stephanie L., Foster, Kimberly S., Boyette, Keri E., Bali, Deeksha S., Li, Jennifer S., Kishnani, Priya S., Wechsler, Stephanie Burns
Published in Genetics in medicine (01.07.2010)
Published in Genetics in medicine (01.07.2010)
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Journal Article
Emerging therapies for glycogen storage disease type I
Koeberl, D.D, Kishnani, P.S, Bali, D, Chen, Y-T
Published in Trends in endocrinology and metabolism (01.07.2009)
Published in Trends in endocrinology and metabolism (01.07.2009)
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Journal Article
P1588: LONG‐TERM REAL‐WORLD EFFECTIVENESS OF ELIGLUSTAT IN TREATMENT‐NAÏVE AND SWITCH PATIENTS ENROLLED IN THE INTERNATIONAL COLLABORATIVE GAUCHER GROUP (ICGG) GAUCHER REGISTRY
Mistry, Pramod, Balwani, Manisha, Charrow, Joel, Lorber, Jeremy, Niederau, Claus, Carwile, Jenny, Uslu, Sefika, Kishnani, Priya S.
Published in HemaSphere (08.08.2023)
Published in HemaSphere (08.08.2023)
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Journal Article
Multigenerational case examples of hypophosphatasia: Challenges in genetic counseling and disease management
Huggins, Erin, Ong, Ricardo, Rockman-Greenberg, Cheryl, Flueckinger, Lauren Bailey, Dahir, Kathryn M., Kishnani, Priya S.
Published in Molecular genetics and metabolism reports (01.12.2020)
Published in Molecular genetics and metabolism reports (01.12.2020)
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Journal Article
Clinical laboratory experience of blood CRIM testing in infantile Pompe disease
Bali, Deeksha S., Goldstein, Jennifer L., Rehder, Catherine, Kazi, Zoheb B., Berrier, Kathryn L., Dai, Jian, Kishnani, Priya S.
Published in Molecular genetics and metabolism reports (01.12.2015)
Published in Molecular genetics and metabolism reports (01.12.2015)
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Journal Article
Divergent phenotypes in Gaucher disease implicate the role of modifiers
Goker-Alpan, O, Hruska, K S, Orvisky, E, Kishnani, P S, Stubblefield, B K, Schiffmann, R, Sidransky, E
Published in Journal of medical genetics (01.06.2005)
Published in Journal of medical genetics (01.06.2005)
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Journal Article
3024 COMET post hoc analysis: efficacy of long-term avalglucosidase alfa in subgroups of patients with late-onset Pompe disease
Henderson, Robert, Toscano, Antonio, Kishnani, Priya S, Dimachkie, Mazen M, Sacconi, Sabrina, Roberts, Mark, Suwazono, Shugo, Choi, Young Chul, Sgobbi de Souza, Paulo Victor, Schoser, Benedikt, Armstrong, Nicole, Huynh-Ba, Olivier, Thibault, Nathan, Periquet, Magali, Díaz-Manera, Jordi
Published in BMJ neurology open (01.08.2024)
Published in BMJ neurology open (01.08.2024)
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Journal Article
Targeted long-read sequencing identifies missing disease-causing variation
Miller, Danny E., Sulovari, Arvis, Wang, Tianyun, Loucks, Hailey, Hoekzema, Kendra, Munson, Katherine M., Lewis, Alexandra P., Fuerte, Edith P. Almanza, Paschal, Catherine R., Walsh, Tom, Thies, Jenny, Bennett, James T., Glass, Ian, Dipple, Katrina M., Patterson, Karynne, Bonkowski, Emily S., Nelson, Zoe, Squire, Audrey, Sikes, Megan, Beckman, Erika, Bennett, Robin L., Earl, Dawn, Lee, Winston, Allikmets, Rando, Perlman, Seth J., Chow, Penny, Hing, Anne V., Wenger, Tara L., Adam, Margaret P., Sun, Angela, Lam, Christina, Chang, Irene, Zou, Xue, Austin, Stephanie L., Huggins, Erin, Safi, Alexias, Iyengar, Apoorva K., Reddy, Timothy E., Majoros, William H., Allen, Andrew S., Crawford, Gregory E., Kishnani, Priya S., King, Mary-Claire, Cherry, Tim, Chong, Jessica X., Bamshad, Michael J., Nickerson, Deborah A., Mefford, Heather C., Doherty, Dan, Eichler, Evan E.
Published in American journal of human genetics (05.08.2021)
Published in American journal of human genetics (05.08.2021)
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Journal Article
Burden of Illness in Adults With Hypophosphatasia: Data From the Global Hypophosphatasia Patient Registry
Seefried, Lothar, Dahir, Kathryn, Petryk, Anna, Högler, Wolfgang, Linglart, Agnès, Martos‐Moreno, Gabriel Ángel, Ozono, Keiichi, Fang, Shona, Rockman‐Greenberg, Cheryl, Kishnani, Priya S
Published in Journal of bone and mineral research (01.11.2020)
Published in Journal of bone and mineral research (01.11.2020)
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Journal Article
Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
Kishnani, Priya S., Goldstein, Jennifer, Austin, Stephanie L., Arn, Pamela, Bachrach, Bert, Bali, Deeksha S., Chung, Wendy K., El-Gharbawy, Areeg, Brown, Laurie M., Kahler, Stephen, Pendyal, Surekha, Ross, Katalin M., Tsilianidis, Laurie, Weinstein, David A., Watson, Michael S.
Published in Genetics in medicine (01.04.2019)
Published in Genetics in medicine (01.04.2019)
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Journal Article