Not logged in.png)
Share.png)
SaveShare Save Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource
Koch, Rebecca L.; Soler-Alfonso, Claudia; Kiely, Bridget T.; Asai, Akihiro; Smith, Ariana L.; Bali, Deeksha S.; Kang, Peter B.; Landstrom, Andrew P.; Akman, H. Orhan; Burrow, T. Andrew; Orthmann-Murphy, Jennifer L.; Goldman, Deberah S.; Pendyal, Surekha; El-Gharbawy, Areeg H.; Austin, Stephanie L.; Case, Laura E.; Schiffmann, Raphael; Hirano, Michio; Kishnani, Priya S. Share Save Share Save Targeted long-read sequencing identifies missing disease-causing variationMiller, 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. Share Save Share Save Early diagnosis and treatment of infantile-onset Pompe disease via newborn screenCohen, Jennifer L.; Desai, Ankit; Li, Cindy; Huggins, Erin; Cooper, Gabrielle; Bhambhani, Vikas; Dempsey, Katherine; Ficicioglu, Can; Gupta, Punita; Austin, Stephanie; Kishnani, Priya S. Share Save Share Save Share Save Novel approaches to quantify CNS involvement in children with Pompe diseaseKorlimarla, Aditi; Spiridigliozzi, Gail A.; Crisp, Kelly; Herbert, Mrudu; Chen, Steven; Malinzak, Michael; Stefanescu, Mihaela; Austin, Stephanie L.; Cope, Heidi; Zimmerman, Kanecia; Jones, Harrison; Provenzale, James M.; Kishnani, Priya S. Share Save Extended treatment with VAL-1221, a novel protein targeting cytoplasmic glycogen, in patients with late-onset Pompe diseaseAustin, Stephanie; Kishnani, Priya; Case, Laura; Lachmann, Robin; Appleby, Matt; Mozaffar, Tahseen; Avelar, Jenny; Wencel, Marie; Kak, Manisha; Landy, Hal Share Save Share Save Share Save Share Save Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoringHalaby, Carine A.; Young, Sarah P.; Austin, Stephanie; Stefanescu, Ela; Bali, Deeksha; Clinton, Lani K.; Smith, Brian; Pendyal, Surekha; Upadia, Jariya; Schooler, Gary R.; Mavis, Alisha M.; Kishnani, Priya S. Share Save 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.; Ei-Gharbawy, Areeg; Brown, Laurie M.; Kahler, Stephen; Pendyal, Surekha; Ross, Katalin M.; Tsilianidis, Laurie; Weinstein, David A.; Watson, Michael S. Share Save Share Save Share Save Share Save Share Save 
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}