Výsledky vyhledávání - "Ajith Karunakara"

DNL310 normalizes primary storage substrates and biomarkers of lysosomal dysfunction in neuronopathic MPS II: 2-year interim analysis of a phase 1/2 study

Autor: Akhil Bhalla, Khishig Tsogtbaatar, Ritesh Ravi, Meng Fang, Sonnet S. Davis, Imanol Zubizarreta, Ajith Karunakara, Yuda Zhu, Elizabeth Sinclair, Dominique Jacquemet-Engelhart, Shyeilla V. Dhuria, Tony Hung, Matthew Troyer, Peter Chin, Jeff M. Harris, Anna Bakardjiev

Publikováno v: Molecular Genetics and Metabolism. 138:107031

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::adf4018aa398d509df431f80b0f78801
https://doi.org/10.1016/j.ymgme.2022.107031

Zobrazit plný text záznamu

eP259: A phase 1/2 trial of AXO-AAV-GM1 gene therapy for the treatment of infantile- and juvenile-onset GM1 gangliosidosis

Autor: Cynthia Tift, Precilla D'Souza, Jean Johnston, Maria Acosta, Elena-Raluca Nicoli, Caroline Rothermel, Audrey Thurm, Ajith Karunakara, Benjamin Thorp, Peter Ross, John Jameson, Michael Sheehan, Toby Vaughn, Donna Valencia, Erika De Boever

Publikováno v: Genetics in Medicine. 24:S164

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::be31217b77f00cee5569cb3387251176
https://doi.org/10.1016/j.gim.2022.01.294

Zobrazit plný text záznamu

Phase 1/2 trial of AXO-AAV-GM1 (AAV9-GLB1) gene therapy for infantile- and juvenile-onset GM1 gangliosidosis

Autor: Cynthia Tifft, Precilla D’Souza, Jean M. Johnston, Maria T. Acosta, Elena-Raluca Nicoli, Caroline Rothermel, Audrey Thurm, Ajith Karunakara, Benjamin Thorp, Peter Ross, John Jameson, Michael Sheehan, Toby Vaughn, Donna Valencia, Erika De Boever, Gavin Corcoran

Publikováno v: Molecular Genetics and Metabolism. 135:S119

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::29d6256565ab7b956aaf19834434eefb
https://doi.org/10.1016/j.ymgme.2021.11.317

Zobrazit plný text záznamu

The natural history of Type 1 infantile GM1 gangliosidosis: A literature-based meta-analysis

Autor: Ajith Karunakara, Cynthia J. Tifft, Frederick Lang, Paul Korner, Mark Harnett

Publikováno v: Mol Genet Metab

INTRODUCTION: Type 1 GM1 gangliosidosis is an ultra-rare, rapidly fatal lysosomal storage disorder, with life expectancy of less than 3 years of age. To date, only one prospective natural history study of limited size has been reported. Thus, there i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1925e4b5aeb4cc3d1ad3ac94326477e
https://pubmed.ncbi.nlm.nih.gov/31937438

Zobrazit plný text záznamu