Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Priya S Kishnan"'
Autor:
Sheela Nampoothiri, Dhanya Yesodharan, Shwetha Kuthiroly, Nitu Puthenveettil, Vinitha Murali, Priyanka Peethambaran, Radhamany K, Priya S Kishnan
Publikováno v:
Archives of Clinical and Medical Case Reports.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a09372430744dcbe9ca54f27df9ba40f
https://doi.org/10.26502/acmcr.96550461
https://doi.org/10.26502/acmcr.96550461
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