Zobrazeno 1 - 10
of 187
pro vyhledávání: '"Sunita Bijarnia Mahay"'
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:
Luna Bajracharya, Meena Lall, Sunita Bijarnia-Mahay, Praveen Kumar, Imran Mushtaq, Pushpa Saviour, Preeti Paliwal, Anju Joshi, Shruti Agarwal, Praveen Suman
Publikováno v:
Case Reports in Genetics, Vol 2023 (2023)
Introduction. There is evidence that neurodevelopmental disorders are associated with chromosomal abnormalities. Current genetic testing can clinch an exact diagnosis in 20–25% of such cases. Case Description. A 3 years and 11 months old boy with g
Externí odkaz:
https://doaj.org/article/89bceb5960b840419b033221084a07a5
Publikováno v:
Annals of Indian Academy of Neurology, Vol 24, Iss 3, Pp 413-416 (2021)
Autosomal dominant leukodystrophy is an adult onset neurodegenerative disorder presenting with progressive symptoms of ataxia and autonomic dysfunction in fourth or fifth decade in life. It has clinical similarity with multiple sclerosis, but shows c
Externí odkaz:
https://doaj.org/article/53577b6d09c14e0793b760327e84d3e8
Autor:
Kanika Singh, Sunita Bijarnia-Mahay, V. L. Ramprasad, Ratna Dua Puri, Sandhya Nair, Sheetal Sharda, Renu Saxena, Sudha Kohli, Samarth Kulshreshtha, Indrani Ganguli, Kanwal Gujral, Ishwar C. Verma
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-15 (2020)
Abstract Background To determine the carrier frequency and pathogenic variants of common genetic disorders in the north Indian population by using next generation sequencing (NGS). Methods After pre-test counselling, 200 unrelated individuals (includ
Externí odkaz:
https://doaj.org/article/ac50b3dccb2a4559ad84dd3f3290e3d5
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:
JIMD Reports, Vol 53, Iss 1, Pp 12-15 (2020)
Abstract Tyrosine hydroxylase deficiency is a rare autosomal recessive, treatable disorder of neurotransmission. Fewer than 100 cases have been reported so far. We present a case of a 10‐month‐old infant who was symptomatic since 5 months of age
Externí odkaz:
https://doaj.org/article/82868084e2f44a63a8950188325d5bc4
Publikováno v:
Annals of Indian Academy of Neurology, Vol 23, Iss 3, Pp 347-351 (2020)
Guanidinoacetate methyltransferase (GAMT) deficiency is the second most common defect in the creatine metabolism pathway resulting in cerebral creatine deficiency syndrome (CCDS). We report three patients from two unrelated families, diagnosed with G
Externí odkaz:
https://doaj.org/article/a7be030f14ca4ab4aaf596b17956e182
Publikováno v:
Indian Pediatrics Case Reports, Vol 1, Iss 2, Pp 117-119 (2021)
Background: Weill–Marchesani syndrome (WMS) is a rare heritable connective disorder characterized by short stature, brachydactyly, stiff joints and distinctive ocular manifestations of microspherophakia, myopia, ectopia lentis, and glaucoma. It is
Externí odkaz:
https://doaj.org/article/670de0379ae049b38bb9b163486c23fa
Autor:
Ishpreet K. Biji, Sunita Bijarnia Mahay, Renu Saxena, Ishwar Verma, Benu Kumar, Ratna Dua Puri
Publikováno v:
Indian Journal of Pediatrics. 90:83-86
Desbuquois dysplasia (DBQD) is an uncommon, autosomal recessive disorder with multiple joint dislocations. It is caused by pathogenic variants in CANT1 (calcium-activated nucleotidase 1) [NM_001159773.2]. This study adds to the scant data of nine rep
Publikováno v:
Indian Pediatrics. 59:875-878