Zobrazeno 1 - 10
of 157
pro vyhledávání: '"A Radha Rama Devi"'
Autor:
Jyothirmayi Kanukurti, B Sheshu Kumar, Bhavya Sirivelu, KSS Sai Baba, O Sai Satish, A Radha Rama Devi, Shaik Mohammad Naushad, Iyyapu Krishna Mohan
Publikováno v:
Journal of Clinical and Diagnostic Research, Vol 13, Iss 6, Pp BC21-BC24 (2019)
Introduction: Association of serum folate, Vitamin B6 and B12 deficiencies with hyperhomocysteinemia are well-documented. Several studies on Indian population, address the association of hyperhomocysteinemia with numerous diseases, but populationspec
Externí odkaz:
https://doaj.org/article/f145da82208146838ff5ca1cc87424ac
Autor:
A Radha Rama Devi
Publikováno v:
Asian Journal of Medical Sciences, Vol 2, Iss 3, Pp 141-144 (2012)
Ring chromosome 20 is a rare chromosomal abnormality characterized mainly by refractory epileptic seizures, cognitive and behavioral problems, and absence of definite dysmorphic features. We report a 5-year-old boy with refractory epilepsy and minima
Externí odkaz:
https://doaj.org/article/1b5ff9fbe7bb4e2ab1b3515471dd5fc2
Autor:
Harsh Sheth, Aadhira Nair, Riddhi Bhavsar, Mahesh Kamate, Vykuntaraju K. Gowda, Ashish Bavdekar, Sandeep Kadam, Sheela Nampoothiri, Inusha Panigrahi, Anupriya Kaur, Siddharth Shah, Sanjeev Mehta, Sujatha Jagadeesan, Indrani Suresh, Seema Kapoor, Shruti Bajaj, Radha Rama Devi, Ashka Prajapati, Koumudi Godbole, Harsh Patel, Zulfiqar Luhar, Raju C. Shah, Anand Iyer, Sunita Bijarnia, Ratna Puri, Mamta Muranjan, Ami Shah, Suvarna Magar, Neerja Gupta, Naresh Tayade, Ajit Gandhi, Ajit Sowani, Shrutikaa Kale, Anil Jalan, Dhaval Solanki, Ashwin Dalal, Shrikant Mane, C. Ratna Prabha, Frenny Sheth, Chaitanya G. Joshi, Madhvi Joshi, Jayesh Sheth
Publikováno v:
Human Genomics, Vol 18, Iss 1, Pp 1-20 (2024)
Abstract Background Current clinical diagnosis pathway for lysosomal storage disorders (LSDs) involves sequential biochemical enzymatic tests followed by DNA sequencing, which is iterative, has low diagnostic yield and is costly due to overlapping cl
Externí odkaz:
https://doaj.org/article/8292fe789fb04f60a6890327d1f87871
Publikováno v:
In Pediatric Neurology May 2020 106:43-49
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
Autor:
Mohan, Iyyapu Krishna, Khan, Siraj Ahmed, Jacob, Rachel, Sushma Chander, Nooguri, Hussain, Tajamul, Alrokayan, Salman A., Radha Rama Devi, Akella, Naushad, Shaik Mohammad
Publikováno v:
In Clinical Nutrition ESPEN August 2017 20:41-46
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:
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