Zobrazeno 1 - 10
of 594
pro vyhledávání: '"Priya S Kishnani"'
Autor:
Mark Roberts, Jordi Diaz-Manera, Antonio Toscano, Sabrina Sacconi, Mazen M Dimachkie, Nicole Armstrong, Robert Henderson, Benedikt Schoser, Priya S Kishnani, Olivier Huynh-Ba, Nathan Thibault, Young Chul Choi, Shugo Suwazono, Paulo Victor Sgobbi de Souza, Magali Periquet
Publikováno v:
BMJ Neurology Open, Vol 6, Iss Suppl 1 (2024)
Externí odkaz:
https://doaj.org/article/2e003ce4137a4384adc92d7fe85d02dc
Autor:
Wolfgang Högler, Agnès Linglart, Anna Petryk, Priya S Kishnani, Lothar Seefried, Shona Fang, Cheryl Rockman-Greenberg, Keiichi Ozono, Kathryn Dahir, Gabriel Ángel Martos-Moreno
Publikováno v:
Endocrine Connections, Vol 12, Iss 5, Pp 1-12 (2023)
Objective: Hypophosphatasia, an inborn error of metabolism characterized by impaired bone mineralization, can affect growth. This study evaluated relationships between anthropometric parameters (height, weight, and body mass index) and clinical manif
Externí odkaz:
https://doaj.org/article/80b62c288c1647f39bc8c401348a6d16
Autor:
Kristin M Taylor, Elizabeth Meyers, Michael Phipps, Priya S Kishnani, Seng H Cheng, Ronald K Scheule, Rodney J Moreland
Publikováno v:
PLoS ONE, Vol 8, Iss 2, p e56181 (2013)
Pompe disease, also known as glycogen storage disease (GSD) type II, is caused by deficiency of lysosomal acid α-glucosidase (GAA). The resulting glycogen accumulation causes a spectrum of disease severity ranging from a rapidly progressive course t
Externí odkaz:
https://doaj.org/article/eb859b5cc58943a8b5ff18a9d84331be
Autor:
Suhrad G Banugaria, Sean N Prater, Trusha T Patel, Stephanie M Dearmey, Christie Milleson, Kathryn B Sheets, Deeksha S Bali, Catherine W Rehder, Julian A J Raiman, Raymond A Wang, Francois Labarthe, Joel Charrow, Paul Harmatz, Pranesh Chakraborty, Amy S Rosenberg, Priya S Kishnani
Publikováno v:
PLoS ONE, Vol 8, Iss 6, p e67052 (2013)
Although enzyme replacement therapy (ERT) is a highly effective therapy, CRIM-negative (CN) infantile Pompe disease (IPD) patients typically mount a strong immune response which abrogates the efficacy of ERT, resulting in clinical decline and death.
Externí odkaz:
https://doaj.org/article/18fa0e438966415a88a3734dd619fdd0
Autor:
Bridget T. Kiely, Rebecca L. Koch, Leticia Flores, Danielle Burner, Samantha Kaplan, Priya S. Kishnani
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Purpose: Glycogen storage disease type IV (GSD IV) has historically been divided into discrete hepatic (classic hepatic, non-progressive hepatic) and neuromuscular (perinatal-congenital neuromuscular, juvenile neuromuscular) subtypes. However, the ex
Externí odkaz:
https://doaj.org/article/6f031d2d331e4d57a0d1858a38c1838c
Autor:
Shelly Goomber, Erin Huggins, Catherine W. Rehder, Jennifer L. Cohen, Deeksha S. Bali, Priya S. Kishnani
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Purpose: The addition of Pompe disease (Glycogen Storage Disease Type II) to the Recommended Uniform Screening Panel in the United States has led to an increase in the number of variants of uncertain significance (VUS) and novel variants identified i
Externí odkaz:
https://doaj.org/article/679af5bc69674bcba68ce987b80d72dc
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 18, Iss , Pp 240-249 (2020)
Glycogen storage disease type III (GSD III) is an inherited disorder caused by a deficiency of glycogen debranching enzyme (GDE), which results in the accumulation of abnormal glycogen (limit dextrin) in the cytoplasm of liver, heart, and skeletal mu
Externí odkaz:
https://doaj.org/article/4560144da7dc471082c8175480e50f1a
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 12, Iss , Pp 233-245 (2019)
Pompe disease, a severe and often fatal neuromuscular disorder, is caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). The disease is characterized by the accumulation of excess glycogen in the heart, skeletal muscle, and CNS
Externí odkaz:
https://doaj.org/article/0b297c69d3504cfd9f4e78a0f30a449b
Publikováno v:
American Journal of Speech-Language Pathology. :1-16
Purpose: Children with Pompe disease, a rare genetic metabolic myopathy, often have speech impairments. In this study, we provide a comprehensive description of articulation, resonance, and voice in children with Pompe disease. Method: Fifteen childr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8fca79befba913f73d9b5d1822656167
https://doi.org/10.1044/2023_ajslp-22-00382
https://doi.org/10.1044/2023_ajslp-22-00382
Autor:
Anne F Buckley, Ankit K Desai, Christine I Ha, Maureen A Petersen, Januario C Estrada, Justin R Waterfield, Edward H Bossen, Priya S Kishnani
Publikováno v:
Journal of Neuropathology & Experimental Neurology. 82:345-362
The survival of infantile-onset Pompe disease (IOPD) patients has improved dramatically since the introduction of enzyme replacement therapy (ERT) with a1glucosidase alfa. However, long-term IOPD survivors on ERT demonstrate motor deficits indicating
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1dd99b70e4429864566461c7175fb37e
https://doi.org/10.1093/jnen/nlad012
https://doi.org/10.1093/jnen/nlad012