Zobrazeno 1 - 10
of 71
pro vyhledávání: '"Mamta N, Muranjan"'
Autor:
Chaitanya Datar, Nutan Kamath, Mamta N. Muranjan, Katta M. Girisha, Gandham SriLakshmi Bhavani, Anju Shukla, Shubha R. Phadke, Hitesh Shah, Chelna Galada, Sheela Nampoothiri, Prince Jacob
Publikováno v:
American Journal of Medical Genetics Part A. 188:751-759
Pseudoachondroplasia (PSACH) is an autosomal dominant disorder characterized by rhizomelic short-limbed skeletal dysplasia. The primary clinical and radiographic features include disproportionate dwarfism, joint laxity and hyperextensibility, exagger
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2f2a40ce0d39ff3e69f3ebd997f9e1f
https://doi.org/10.1002/ajmg.a.62566
https://doi.org/10.1002/ajmg.a.62566
Autor:
Yatheesha Bl, Ali Kumble, Michelle C. do Rosario, Anupriya Kaur, Leslie Lewis, Rajagopal Kadavigere, Ratna Dua Puri, K Shreedhara Avabratha, Sunita Bijarnia Mahay, Girish Subramaniam, Suvasini Sharma, K C Rakshith, Siddaramappa J. Patil, Sheela Nampoothiri, Mahesh Kamate, Shrikiran A, Hitesh Shah, Rajesh Shetty, Katta M. Girisha, Nutan Kamath, Anju Shukla, Shruti Bajaj, Stephanie L. Bielas, Narayanaswami Suresh, Malavika Hebbar, Shivanand Pai, Mamta N. Muranjan, Parneet Kaur, Ramesh Bhat Y, Rathika D. Shenoy, Neethukrishna Kausthubham, Karthik Nair
Publikováno v:
Clin Genet
Genetic disorders with predominant central nervous system white matter abnormalities (CNS WMAs), also called leukodystrophies, are heterogeneous entities. We ascertained 117 individuals with CNS WMAs from 104 unrelated families. Targeted genetic test
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26e1afded30e8ac2d9ad5e9b01fc140f
https://doi.org/10.1111/cge.14037
https://doi.org/10.1111/cge.14037
Autor:
Madhulika Kabra, Ratna Dua Puri, Ishwar C. Verma, Sheela Nampoothiri, Katta M. Girisha, Neerja Gupta, Ishpreet K. Biji, Priya S. Kishnani, Mamta N. Muranjan, Sujatha Jagadeesh, N Vinu, Jyotsna Verma, Jayarekha Raja, Ravinder Makkar, Divya C. Thomas, Nitika Setia, Meenakshi Bhat
Publikováno v:
Neuromuscular Disorders. 31:431-441
We evaluated the clinical histories, motor and pulmonary functions, cardiac phenotypes and GAA genotypes of an Indian cohort of twenty patients with late onset Pompe disease (LOPD) in this multi-centre study. A mean age at onset of symptoms and diagn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc6199f44a124c02bf605eb42732602b
https://doi.org/10.1016/j.nmd.2021.02.013
https://doi.org/10.1016/j.nmd.2021.02.013
Autor:
Prajnya Ranganath, Ashwin Dalal, Akash Ranjan, S Jamal Md Nurul Jain, Sunita Bijarnia-Mahay, Dipti Deshpande, Jayesh Sheth, Madhulika Kabra, Shagun Aggarwal, Katta M. Girisha, Asodu Sandeep Sarma, Kausik Mandal, Mehul Mistri, Mamta N. Muranjan, Preetha Tilak, Naresh B. Tayade, Ratna Dua Puri, Neerja Gupta, A Radha Rama Devi, Shailesh Kumar Gupta, Shubha R. Phadke, Chaitanya Datar
Publikováno v:
Human mutationREFERENCES. 42(10)
Pathogenic variations in SMPD1 lead to acid sphingomyelinase deficiency (ASMD), that is, Niemann-Pick disease (NPD) type A and B (NPA, NPB), which is a recessive lysosomal storage disease. The knowledge of variant spectrum in Indian patients is cruci
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69a06663ae8dad43fb0afae05db163b9
https://pubmed.ncbi.nlm.nih.gov/34273913
https://pubmed.ncbi.nlm.nih.gov/34273913
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/
Publikováno v:
Journal of Postgraduate Medicine, Vol 65, Iss 3, Pp 171-176 (2019)
Journal of Postgraduate Medicine
Journal of Postgraduate Medicine
Intracranial hemorrhage (ICH) is rarely seen in patients with thalassemia. A seven-year-old male, known case of beta-thalassemia major, on irregular packed cell transfusions (elsewhere) and non-compliant with chelation therapy, presented with congest
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8bee04a2171d481f2222474408e9fde
http://www.jpgmonline.com/article.asp?issn=0022-3859
http://www.jpgmonline.com/article.asp?issn=0022-3859
Autor:
Mamta N. Muranjan, Katta M. Girisha, Gandham SriLakshmi Bhavani, Kausthubham Neethukrishna, Anju Shukla, Gen Nishimura, Geert Mortier, Kerstin Kutsche, Leonie von Elsner
Publikováno v:
Human mutation
Spondyloepimetaphyseal dysplasias (SEMD) are a group of genetically heterogeneous skeletal disorders characterized by abnormal vertebral bodies and epimetaphyseal abnormalities. We investigated two families with a new SEMD type with one proband each.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fb6daeb583b6aa68fa70e06274ad9a0
https://doi.org/10.1002/humu.23693
https://doi.org/10.1002/humu.23693
Autor:
Mamta N. Muranjan, Ratna Dua Puri, Gaucher Disease Task Force, Seema Kapoor, Pramod K. Mistry, Shubha R. Phadke, Priya S. Kishnani, Ashwin Dalal, Ishwar C. Verma, Neerja Gupta, Anupam Sachdeva
Publikováno v:
Indian Pediatrics. 55:143-153
Justification Gaucher disease (GD) is amongst the most frequently occurring lysosomal storage disorder in all ethnicities. The clinical manifestations and natural history of GD is highly heterogeneous with extreme geographic and ethnic variations. Th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::725eba8ada9a1d6d1e9ca816cf643fd0
https://doi.org/10.1007/s13312-018-1249-9
https://doi.org/10.1007/s13312-018-1249-9
Autor:
Mamta N. Muranjan, Sunil Karande
Publikováno v:
Journal of Postgraduate Medicine, Vol 64, Iss 4, Pp 195-199 (2018)
Journal of Postgraduate Medicine
Journal of Postgraduate Medicine
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6e61089426074ef89d2014ef5f988b8
http://www.jpgmonline.com/article.asp?issn=0022-3859
http://www.jpgmonline.com/article.asp?issn=0022-3859
Publikováno v:
Journal of Postgraduate Medicine, Vol 64, Iss 3, Pp 164-169 (2018)
Deep vein thrombosis and pulmonary thromboembolism are rare and life threatening emergencies in children. We report an 11-year old female who presented with acute complaints of high grade fever, pain in the left thigh and inability to walk and breath
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c5e2ca51b0a6937f2dc5cf23860bf37
http://www.jpgmonline.com/article.asp?issn=0022-3859
http://www.jpgmonline.com/article.asp?issn=0022-3859