Zobrazeno 1 - 10
of 61
pro vyhledávání: '"Akella, Radha Rama Devi"'
Autor:
Sheela Nampoothiri, Dhanya Yesodharan, Amrita Bhattacherjee, Hisham Ahamed, Ratna Dua Puri, Neerja Gupta, Madhulika Kabra, Prajnya Ranganath, Meenakshi Bhat, Shubha Phadke, Akella Radha Rama Devi, Sujatha Jagadeesh, Sumita Danda, Padmavathy Narayana Sylaja, Kausik Mandal, Sunita Bijarnia‐Mahay, Ravinder Makkar, Ishwar Chander Verma, Ashwin Dalal, Uma Ramaswami
Publikováno v:
JIMD Reports, Vol 56, Iss 1, Pp 82-94 (2020)
Abstract Fabry disease (FD) is a treatable X linked lysosomal storage disorder with a wide phenotypic spectrum. There is a scarcity of published data on the burden of FD in India. This study evaluates the clinical and molecular spectrum of Indian pat
Externí odkaz:
https://doaj.org/article/1fc4e82c88a64b728007b9797e36a37d
Publikováno v:
In Clinica Chimica Acta 1 September 2016 460:63-66
Autor:
Gouri Rao Passi, Swati Pandey, Akella Radha Rama Devi, Ramesh Konanki, Abhishek Ravindra Jain, Shweta Bhatnagar, Ruchi Tripathi, Vivek Jain
Publikováno v:
Brain and Development. 44:271-280
Cerebral creatine deficiency syndromes (CCDS) are a group of potentially treatable neurometabolic disorders. The clinical, genetic profile and follow up outcome of Indian CCDS patients is presented.This was a retrospective cohort of CCDS patients see
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06f91b93e9ab488f2de02f0a91bd5e94
https://doi.org/10.1016/j.braindev.2021.12.004
https://doi.org/10.1016/j.braindev.2021.12.004
Publikováno v:
Annals of Indian Academy of Neurology, Vol 22, Iss 4, Pp 523-524 (2019)
Externí odkaz:
https://doaj.org/article/79553da01ff24c3a80975941fc38df5a
Autor:
Kollati, Yedukondalu1 (AUTHOR), Akella, Radha Rama Devi2 (AUTHOR), Naushad, Shaik Mohammad3 (AUTHOR), Thalla, Maunika3 (AUTHOR), Reddy, G Bhanuprakash4 (AUTHOR), Dirisala, Vijaya R.1 (AUTHOR) drdirisala@gmail.com
Publikováno v:
3 Biotech. 6/1/2020, Vol. 10 Issue 6, p1-9. 9p.
Autor:
Muge Sayitoglu, Raif S. Geha, Luca Maragliano, Carla Borzacchiello, A Worth, Ghassan Dbaibo, Moaffaq Mahdi, Bénédicte Neven, Peter Ciznar, Ioanna A. Rota, Ana E. Sousa, José Gonçalo Marques, Akella Radha Rama Devi, Emilia Cirillo, Rima Hanna-Wakim, E. Graham Davies, Giuliana Giardino, Alexandra Y. Kreins, Janet Chou, Sule Haskologlu, Georg A. Holländer, Fabio Benfenati, Candan Islamoglu, Figen Dogu, Fatima Dhalla, Claudio Pignata, Sinem Firtina, Aydan Ikinciogullari, Svetlana O. Sharapova
Publikováno v:
Journal of Clinical Immunology
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
© The Author(s) 2021. Open Access. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71f93e2f8920d101e5992eb97d15e3b0
http://europepmc.org/articles/PMC8068652
http://europepmc.org/articles/PMC8068652
Autor:
Sumita Danda, Ishwar Chander Verma, Neerja Gupta, Ravinder Makkar, Prajnya Ranganath, Hisham Ahamed, Ashwin Dalal, Meenakshi Bhat, Madhulika Kabra, Uma Ramaswami, Sunita Bijarnia-Mahay, Akella Radha Rama Devi, Amrita Bhattacherjee, Ratna Dua Puri, Shubha R. Phadke, Sheela Nampoothiri, Dhanya Yesodharan, Sujatha Jagadeesh, Kausik Mandal, Padmavathy Narayana Sylaja
Publikováno v:
JIMD Reports, Vol 56, Iss 1, Pp 82-94 (2020)
JIMD Reports
JIMD Reports
Fabry disease (FD) is a treatable X linked lysosomal storage disorder with a wide phenotypic spectrum. There is a scarcity of published data on the burden of FD in India. This study evaluates the clinical and molecular spectrum of Indian patients wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3061559a80a32447797f36ae406873ed
https://doi.org/10.1002/jmd2.12156
https://doi.org/10.1002/jmd2.12156
Publikováno v:
Pediatric Neurology. 106:43-49
Background Joubert syndrome and related disorders are a group of ciliopathies characterized by mid-hindbrain malformation, developmental delay, hypotonia, oculomotor apraxia, and breathing abnormalities. Molar tooth sign in brain imaging is the hallm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d57a5155cbcc4902c62798c8d118056a
https://doi.org/10.1016/j.pediatrneurol.2020.01.012
https://doi.org/10.1016/j.pediatrneurol.2020.01.012
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Publikováno v:
Gene. 704:97-102
In the current study, we report three cases of Asparagine Synthetase (ASNS) Deficiency from two consanguineous families. Family 1 had two early neonatal deaths due to a novel mutation in the ASNS gene c.788C > T (p.S263F) and both the children presen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01c4c23eb20dda67f719e9fd619204cb
https://doi.org/10.1016/j.gene.2019.04.024
https://doi.org/10.1016/j.gene.2019.04.024