Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Raju C, Shah"'
Autor:
Jayesh Sheth, Aadhira Nair, Frenny Sheth, Manali Ajagekar, Tejasvi Dhondekar, Inusha Panigrahi, Ashish Bavdekar, Sheela Nampoothiri, Chaitanya Datar, Ajit Gandhi, Mamta Muranjan, Anupriya Kaur, Manisha Desai, Mehul Mistri, Chitra Patel, Premal Naik, Maulin Shah, Koumudi Godbole, Seema Kapoor, Neerja Gupta, Sunita Bijarnia-Mahay, Sandeep Kadam, Dhaval Solanki, Soham Desai, Anand Iyer, Ketan Patel, Harsh Patel, Raju C. Shah, Shalmi Mehta, Ruchi Shah, Riddhi Bhavsar, Jhanvi Shah, Mili Pandya, Bhagyadhan Patel, Sudhir Shah, Heli Shah, Shalin Shah, Shruti Bajaj, Siddharth Shah, Nilam Thaker, Umesh Kalane, Mahesh Kamate, Vykunta Raju KN, Naresh Tayade, Sujatha Jagadeesan, Deepika Jain, Mitesh Chandarana, Jitendra Singh, Sanjiv Mehta, Beena Suresh, Harsh Sheth
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-17 (2024)
Abstract Background Rare disorders comprise of ~ 7500 different conditions affecting multiple systems. Diagnosis of rare diseases is complex due to dearth of specialized medical professionals, testing labs and limited therapeutic options. There is sc
Externí odkaz:
https://doaj.org/article/2e11021daa8849e989ed195e21ef0b00
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
Autor:
Uday A. Pai, Dhanasekhar Kesavelu, Abhay K. Shah, Arun K. Manglik, Arun Wadhwa, Bhaswati Acharya, Deepak Goyal, Lalit Bharadia, Lalit Verma, Nithya Franklyn, Raju C. Shah, Somashekara H. R., Subhashish Bhattacharyya
Publikováno v:
International Journal of Contemporary Pediatrics. 9:987
Ranitidine plays a pivotal role in routine pediatric practice. The multi-dimensional use and safety of ranitidine are not supported by any practical guidelines, which led to recommendations convened by a group of experts based on evidence and the cli
Autor:
Frenny Sheth, Raju C Shah, Ahmed Al-Rikabi, Krati Shah, Jayesh Sheth, Naznin Lubna, Stuti Tewari
Publikováno v:
Molecular Cytogenetics, Vol 10, Iss 1, Pp 1-5 (2017)
Molecular Cytogenetics
Molecular Cytogenetics
Background Ring chromosome 15 is a rare genetic entity. Only a few cases have been reported with characterization using molecular techniques. The clinical presentation is quite variable, as a result of differences in the breakpoints, haploinsufficien
Publikováno v:
BMC Pediatrics, Vol 19, Iss 1, Pp 1-7 (2019)
BMC Pediatrics
BMC Pediatrics
Background Hemophagocytic Lymphohistiocytosis (HLH) is a rare, complex, life-threatening hyper-inflammatory condition due to over activation of lymphocytes mediated secretory cytokines in the body. It occurs as a primary HLH due to genetic defect tha
Autor:
Ashwin Dalal, Ratna Dua Puri, Shubha R. Phadke, Seema Kapoor, Sheela Nampoothiri, Sumita Danda, Jayesh Sheth, Mehul Mistri, Frenny Sheth, Dhairya Pancholi, Mamta N. Muranjan, Katta M. Girisha, Chaitanya Datar, Radha Ramadevi, Riddhi Bhavsar, Seema S. Bhatwadekar, Manisha Goyal, Inusha Panigrahi, Anupriya Kaur, Raju C Shah, Anju Shukla, Ashish Bavdekar, Prajnya Ranganath
Publikováno v:
BMC Medical Genetics
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-11 (2019)
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-11 (2019)
Background Gaucher disease is a rare pan-ethnic, lysosomal storage disorder resulting due to beta-Glucosidase (GBA1) gene defect. This leads to the glucocerebrosidase enzyme deficiency and an increased accumulation of undegraded glycolipid glucocereb
Autor:
Arpita Thakker, Sanjiv Mehta, Jayesh Sheth, Vivek Jain, Madhulika Kabra, Frenny Sheth, Sheela Nampoothiri, Raju C Shah, Dhairya Pancholi, Riddhi Bhavsar, Mehul Mistri, Mahesh Kamate, Neerja Gupta
Publikováno v:
BMC Neurology, Vol 18, Iss 1, Pp 1-11 (2018)
BMC Neurology
BMC Neurology
Background Neuronal ceroid lipofuscinoses type I and type II (NCL1 and NCL2) also known as Batten disease are the commonly observed neurodegenerative lysosomal storage disorder caused by mutations in the PPT1 and TPP1 genes respectively. Till date, n
Autor:
Raju C Shah, Manish Narang, Suparna Chaterjee, Sucheta Roy, Gandhali Bhat, Ganesh Kadhe, Mma Faridi, Amey Mane, Monjori Mitra, Nisha Bhattacharya, Harish Choudhury, Apurba Ghosh, Nitin Shah
Publikováno v:
Human Vaccines & Immunotherapeutics
Varicella, an acute viral systemic infection that may cause lifelong latent infection with the potential for causing clinical reactivation, may be prevented by immunization. The present study was an open label, randomized, controlled, phase III, mult
Autor:
Raju C Shah, Pratima R. Shah
Publikováno v:
The Indian Journal of Pediatrics. 75:815-820
Medically inappropriate, ineffective and economically inefficient use of antimicrobials is commonly observed in the health care units throughout the world especially in the developing countries. Antimicrobial stewardship programs attempt to balance t
Autor:
Raju C. Shah, Anuj R. Shah
Publikováno v:
The Indian Journal of Pediatrics. 70:485-488
Pertussis still continues to cause significant morbidity and mortality worldwide. Because of the high reactogenicity of whole cell pertussis vaccine, it had evoked public controversy in several countries. In 1970 Japan abandoned use of whole cell per