Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Umesh Kalane"'
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:
Balamurugan Nagarajan, Vykuntaraju K. Gowda, Sangeetha Yoganathan, Indar Kumar Sharawat, Kavita Srivastava, Nitish Vora, Rahul Badheka, Sumita Danda, Umesh Kalane, Anupriya Kaur, Priyanka Madaan, Sanjiv Mehta, Sandeep Negi, Prateek Kumar Panda, Surekha Rajadhyaksha, Arushi Gahlot Saini, Lokesh Saini, Siddharth Shah, Varunvenkat M. Srinivasan, Renu Suthar, Maya Thomas, Sameer Vyas, Naveen Sankhyan, Jitendra Kumar Sahu
Publikováno v:
Epilepsia Open, Vol 8, Iss 4, Pp 1383-1404 (2023)
Abstract Objective Literature on the genotypic spectrum of Infantile Epileptic Spasms Syndrome (IESS) in children is scarce in developing countries. This multicentre collaboration evaluated the genotypic and phenotypic landscape of genetic IESS in In
Externí odkaz:
https://doaj.org/article/2042c5f568e642f6a08dd0240ef34435
Autor:
Jayesh Sheth, Mehul Mistri, Chaitanya Datar, Umesh Kalane, Shekhar Patil, Mahesh Kamate, Harshuti Shah, Sheela Nampoothiri, Sarita Gupta, Frenny Sheth
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 425-430 (2014)
Tay–Sachs disease is an autosomal recessive neurodegenerative disorder occurring due to impaired activity of β-hexosaminidase-A (EC 3.2.1.52), resulting from the mutation in HEXA gene. Very little is known about the molecular pathology of TSD in I
Externí odkaz:
https://doaj.org/article/5c5fcf7d32e349658997f18d94d59aef
Autor:
Umesh Kalane, Surekha Rajadhyaksha, Bina Thakore, Sujit Jagtap, Ankita Bhagat, Kavita Srivastava, Ekta Agarwal
Publikováno v:
Indian Journal of Pediatrics. 89:452-458
To compare clinical and nerve conduction studies (NCS) parameters predictive of outcome in children with acute inflammatory demyelinating polyneuropathy (AIDP) and acute motor axonal neuropathy (AMAN). In this prospective observational study, NCS was
Autor:
Divyani Garg, Sangeetha Yoganathan, Uzma Shamim, Kshitij Mankad, Parveen Gulati, Vincenzo Bonifati, Abhijeet Botre, Umesh Kalane, Arushi Gahlot Saini, Naveen Sankhyan, Kavita Srivastava, Vykuntaraju K. Gowda, Monica Juneja, Mahesh Kamate, Hansashree Padmanabha, Debasis Panigrahi, Shaila Pachapure, Vrajesh Udani, Atin Kumar, Sanjay Pandey, Maya Thomas, Sumita Danda, Shaikh Atif Iqbalahmed, Annadurai Subramanian, Harish Pemde, Varinder Singh, Mohammed Faruq, Suvasini Sharma
Publikováno v:
Movement Disorders Clinical Practice, 9(7), 886-899. John Wiley & Sons Ltd.
Background Hypermanganesemia with dystonia 1 and 2 (HMNDYT1 and 2) are rare, inherited disorders of manganese transport. Objectives We aimed to describe clinical, laboratory features, and outcomes among children with HMNDYT. Methods We conducted a re
Publikováno v:
Indian Journal of Child Health. 7:418-420
Rhizobium radiobacter is an opportunistic human pathogen. Infections due to R. radiobacter are strongly related to the presence of foreign plastic materials and effective treatment often requires removal of the device. We report a case of R. radiobac
Autor:
Lakshmi Vasudevan, Umesh Kalane, Parag M Tamhankar, Katta M. Girisha, Mahesh Kamate, Shaik Mohammad Naushad, Mamta N. Muranjan, Pooja J. Dholakia, Sumita Danda, Sarfaraj Niazi, Vasundhara Tamhankar, Shekhar Patil, Pratima Kondurkar, Reena Gulati, Rita Christopher, Dhaval Solanki, Madhavi Vasikarla, Jayesh Sheth
Publikováno v:
J Pediatr Genet
Glutaric acidemia type 1 (GA-1, OMIM 231670) is an autosomal recessive inborn error of metabolism caused by the deficiency of glutaryl-coenzyme A (CoA) dehydrogenase with most children presenting in infancy with encephalopathy, dystonia, and macrocep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7e65672b344894b2102c3c1e80ca4bc
https://europepmc.org/articles/PMC8416222/
https://europepmc.org/articles/PMC8416222/
Autor:
Monica Juneja, Vrajesh Udani, Abhijeet Botre, Mahesh Kamate, Suvasini Sharma, Naveen Sankhyan, Kavita Srivastava, Arushi Gahlot Saini, Umesh Kalane, Debasis Panigrahi, Hansashree Padmanabha, Divyani Garg, Sangeetha Yoganathan
Publikováno v:
Journal of the Neurological Sciences. 429:119497
Publikováno v:
Indian Journal of Pediatrics. 88:716-716
Autor:
Umesh Kalane, Shilpa Kalane
Publikováno v:
International Journal of Epilepsy. :090-093
Background Myoclonic epilepsies in the infantile age have varied presentations including benign myoclonic epilepsy of infancy (MEI) on one side and Doose, west, Dravet syndrome as well as recognized syndromes on the severe spectrum on the other side.