Restrictive Dermopathy

by Atanu Kumar Dutta, Sumita Danda
Published 2016-06-01

PSENEN mutation in coexistent hidradenitis suppurativa and dowling-degos disease

by Dincy C. V Peter, Frances J. D Smith, Neil J Wilson, Sumita Danda
Published 2021-01-01

A descriptive pilot study of mitochondrial mutations & clinical phenotype in fibromyalgia syndrome

by Sumita Danda, Blessy Mariam Thomas, G Paramasivam, Raji Thomas, John Mathew, Debashish Danda
Published 2019-01-01

Imaging findings in TRPM6-Related hypomagnesemia with secondary hypocalcemia

by Prateek Malik, Sayli Umakant Bidkar, Sangeetha Yoganathan, Sarah Mathai, Sumita Danda, Beena Koshy
Published 2021-01-01

Menkes disease and response to copper histidine: An Indian case series

by Sangeetha Yoganathan, Sniya Valsa Sudhakar, Gautham Arunachal, Maya Thomas, Annadurai Subramanian, Renu George, Sumita Danda
Published 2017-01-01

Clinical utility of multiplex ligation-dependent probe amplification technique in identification of aetiology of unexplained mental retardation: A study in 203 Indian patients

by Vijay R Boggula, Anju Shukla, Sumita Danda, Sankar V Hariharan, Sheela Nampoothiri, Rashmi Kumar, Shubha R Phadke
Published 2014-01-01

Metabolic Stroke: A Novel Presentation in a Child with Succinic Semialdehyde Dehydrogenase Deficiency

by Sangeetha Yoganathan, Gautham Arunachal, Lisa Kratz, Mugil Varman, Maya Thomas, Sniya Valsa Sudhakar, Samuel Philip Oommen, Sumita Danda
Published 2020-01-01

Metabolic or ischemic stroke in succinic semi-aldehyde dehydrogenase deficiency due to the homozygous variant c. 1343 + 1_1343 + 3delGTAinsTT in ALDH5A1

by Sangeetha Yoganathan, Gautham Arunachal, Lisa Kratz, Mugil Varman, Maya Thomas, Sniya V Sudhakar, Samuel P Oommen, Sumita Danda
Published 2021-01-01

The Constitutional Balanced Translocation t(11;22)(q23;q11.2)-An Indian Account

by Vandana Kamath, Vivi M Srivastava, S Yuvarani, Mary Purna Chacko, Saurabh Kumar Bhattacharya, Samuel Phillip Oommen, Sumita Danda, George Korula
Published 2019-01-01

Attenuated form of glycine encephalopathy: An unusual cause of neurodevelopmental disorder

by Sangeetha Yoganathan, Rangan Srinivasaraghavan, Mahalakshmi Chandran, Lisa Kratz, Beena Koshy, Sniya Valsa Sudhakar, Gautham Arunachal, Maya Thomas, Sumita Danda
Published 2021-01-01

Cri du chat syndrome: A series of five cases

by Harsha M Dangare, Samuel P Oommen, Amisha N Sheth, Beena Koshy, Reeba Roshan, Maya M Thomas, Sumita Danda, Vivi M Srivastava
Published 2012-01-01

Cerebrotendinous xanthomatosis: Possibility of founder mutation in CYP27A1 gene (c.526delG) in Eastern Indian and Surinamese population

by Atanu Kumar Dutta, Sumita Danda, Karthik Muthusamy, Mathew Alexander, Sniya Valsa Sudhakar, Samuel Hansdak, Rini Bandyopadhyay, G.B. Bakhya Shree, L. Rekha
Published 2015-06-01

Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients

by 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
Published 2020-11-01

Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation

by Jayesh Sheth, Riddhi Bhavsar, Mehul Mistri, Dhairya Pancholi, Ashish Bavdekar, Ashwin Dalal, Prajnya Ranganath, Katta M Girisha, Anju Shukla, Shubha Phadke, Ratna Puri, Inusha Panigrahi, Anupriya Kaur, Mamta Muranjan, Manisha Goyal, Radha Ramadevi, Raju Shah, Sheela Nampoothiri, Sumita Danda, Chaitanya Datar, Seema Kapoor, Seema Bhatwadekar, Frenny Sheth
Published 2019-02-01