Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Nitika Setia"'
Autor:
Veronica Arora, Nitika Setia, Ashwin Dalal, Maria Celestina Vanaja, Deepti Gupta, Tinku Razdan, Shubha R. Phadke, Renu Saxena, Anshu Rohtagi, Ishwar C. Verma, Ratna Dua Puri
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 22, Iss , Pp - (2020)
Sialidosis, an autosomal recessive disorder, is characterized by progressive lysosomal storage of sialylated glycopeptides and oligosaccharides. It occurs as a result of biallelic mutations in the NEU1 gene. Sialidosis is traditionally classified as
Externí odkaz:
https://doaj.org/article/c585e0f01cc24b8ea61b7c8bc29accae
Publikováno v:
Current Medicine Research and Practice, Vol 3, Iss 2, Pp 82-85 (2013)
Metabolic syndrome (MetS) includes hypertension, diabetes, abdominal obesity, low high-density lipoprotein (HDL) and high triglyceride (TG) levels. Current guidelines for the criteria used to define MetS include body mass index (BMI) and waist circum
Externí odkaz:
https://doaj.org/article/1fcb588d19274a64a8dd6c5b102a9f84
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
Autor:
Tycho R Tromp, Merel L Hartgers, G Kees Hovingh, Antonio J Vallejo-Vaz, Kausik K Ray, Handrean Soran, Tomas Freiberger, Stefano Bertolini, Mariko Harada-Shiba, Dirk J Blom, Frederick J Raal, Marina Cuchel, Tycho R. Tromp, Merel L. Hartgers, G. Kees Hovingh, Antonio J. Vallejo-Vaz, Kausik K. Ray, Stefano A. Bertolini, Jing Pang, Gerald F. Watts, Susanne Greber-Platzer, Martin Mäser, Thomas M. Stulnig, Christoph F. Ebenbichler, Khalid Bin Thani, David Cassiman, Olivier S. Descamps, Daisy Rymen, Peter Witters, Raul D. Santos, Liam R. Brunham, Gordon A. Francis, Jacques Genest, Robert A. Hegele, Brooke A. Kennedy, Isabelle Ruel, Mark H. Sherman, Long Jiang, Luya Wang, Željko Reiner, Vladimir Blaha, Richard Ceska, Jana Dvorakova, Lubomir Dlouhy, Pavel Horak, Vladimir Soska, Lukas Tichy, Robin Urbanek, Helena Vaverkova, Michal Vrablik, Stanislav Zemek, Lukas Zlatohlavek, Sameh Emil, Tarek Naguib, Ashraf Reda, Sophie Béliard, Eric Bruckert, Antonio Gallo, Moses S. Elisaf, Genovefa Kolovou, Hofit Cohen, Ronen Durst, Eldad J. Dann, Avishay Elis, Osama Hussein, Eran Leitersdorf, Daniel Schurr, Nitika Setia, Ishwar C. Verma, Mohammed D. Alareedh, Mutaz Al-Khnifsawi, Ali F. Abdalsahib Al-Zamili, Sabah H. Rhadi, Foaad K. Shaghee, Marcello Arca, Maurizio Averna, Andrea Bartuli, Marco Bucci, Paola S. Buonuomo, Paolo Calabrò, Sebastiano Calandra, Manuela Casula, Alberico L. Catapano, Angelo B. Cefalù, Arrigo F.G. Cicero, Sergio D'Addato, Laura D'Erasmo, Alessia Di Costanzo, Tommaso Fasano, Marta Gazzotti, Antonina Giammanco, Gabriella Iannuzzo, Anastasia Ibba, Emanuele A. Negri, Andrea Pasta, Chiara Pavanello, Livia Pisciotta, Claudio Rabacchi, Carlo Ripoli, Tiziana Sampietro, Francesco Sbrana, Fulvio Sileo, Patrizia Suppressa, Patrizia Tarugi, Chiara Trenti, Maria G. Zenti, Mika Hori, Mahmoud H. Ayesh, Sami T. Azar, Fadi F. Bitar, Akl C. Fahed, Elie M. Moubarak, Georges Nemer, Hapizah M. Nawawi, Ramón Madriz, Roopa Mehta, Arjen J. Cupido, Joep C. Defesche, M. Doortje Reijman, Jeanine E. Roeters-van Lennep, Erik S.G. Stroes, Albert Wiegman, Linda Zuurbier, Khalid Al-Waili, Fouzia Sadiq, Krzysztof Chlebus, Mafalda Bourbon, Isabel M. Gaspar, Katarina S. Lalic, Marat V. Ezhov, Andrey V. Susekov, Urh Groselj, Min-Ji Charng, Weerapan Khovidhunkit, Melih Aktan, Bulent B. Altunkeser, Sinan Demircioglu, Melis Kose, Cumali Gokce, Osman Ilhan, Meral Kayikcioglu, Leyla G. Kaynar, Irfan Kuku, Erdal Kurtoglu, Harika Okutan, Osman I. Ozcebe, Zafer Pekkolay, Saim Sag, Osman Z. Salcioglu, Ahmet Temizhan, Mustafa Yenercag, Mehmet Yilmaz, Hamiyet Yilmaz Yasar, Olena Mitchenko, Alexander R.M. Lyons, Christophe A.T. Stevens, Julie A. Brothers, Lisa C. Hudgins, Christina Nguyen, Rano Alieva, Aleksandr Shek, Doan-Loi Do, Ngoc-Thanh Kim, Hong-An Le, Thanh-Tung Le, Mai-Ngoc T. Nguyen, Thanh-Huong Truong, Dirk J. Blom, Frederick J. Raal
Publikováno v:
Homozygous Familial Hypercholesterolaemia International Clinical Collaborators 2022, ' Worldwide experience of homozygous familial hypercholesterolaemia : retrospective cohort study ', The Lancet, vol. 399, no. 10326, pp. 719-728 . https://doi.org/10.1016/S0140-6736(21)02001-8
The Lancet, 399(10326), 719-728. Elsevier Limited
The Lancet, 399(10326), 719-728. Elsevier Limited
[Background]: Homozygous familial hypercholesterolaemia (HoFH) is a rare inherited disorder resulting in extremely elevated low-density lipoprotein cholesterol levels and premature atherosclerotic cardiovascular disease (ASCVD). Current guidance abou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfdc3b132039534b5b3b16d9271de125
https://research.vumc.nl/en/publications/f39e2a3e-cdca-435e-8d43-781bf5d3735d
https://research.vumc.nl/en/publications/f39e2a3e-cdca-435e-8d43-781bf5d3735d
Autor:
Raman Puri, Anjali Arora, Ratna Dua Puri, Sanghamitra Mishra, Sireesha Movva, Renu Saxena, Jitendra Pal Singh Sawhney, Samarth Kulshrestha, Ishwar C. Verma, Ishpreet K. Biji, Prahlad Balakrishnan, V. L. Ramprasad, Sanika Apte, Nitika Setia
Publikováno v:
Journal of Clinical Lipidology. 14:35-45
Background Familial hypercholesterolemia (FH), an autosomal codominant disorder characterized by very high low-density lipoprotein cholesterol, is strongly associated with premature coronary artery disease. Objectives Molecular landscape of FH in Asi
Publikováno v:
Atherosclerosis. 255:31-36
Background and aims Homozygous familial hypercholesterolemia (FH) is a rare but serious, inherited disorder of lipid metabolism characterized by very high total and LDL cholesterol levels from birth. It presents as cutaneous and tendon xanthomas sinc
Autor:
Ratna Dua Puri, Savita Bansal, Pallav Gupta, Veronica Arora, Ishwar C. Verma, Nitika Setia, Sunita Bijarnia-Mahay, Vaibhav Tiwari
Publikováno v:
European journal of medical genetics. 63(3)
Autosomal dominant polycystic kidney disease (ADPKD) is caused by pathogenic variants in either PKD1 or PKD2 genes. Disease severity is dependent on various factors including the presence of modifier genes. We describe a family with recurrent foetal
Publikováno v:
Indian journal of pediatrics. 85(5)
Familial Hypercholesterolemia (FH) is an inherited disorder of lipid metabolism characterized by very high low density lipoprotein (LDL) cholesterol since birth, resulting in premature atherosclerosis and coronary artery disease (CAD). Cascade screen
Autor:
Ishwar C. Verma, Pushpa Saviour, Meena Lall, Preeti Paliwal, Surbhi Mahajan, Anju Joshi, Nitika Setia
Publikováno v:
Journal of Fetal Medicine. :53-59
Karyotyping and fluorescence in situ hybridization (FISH) detect fetal chromosome abnormalities. The choice between karyotyping and FISH is still debatable. In a developing country, parents face an emotional and economic constraint of a prenatal test
Publikováno v:
Journal of Community Medicine & Health Education.
The prevalence of the metabolic syndrome is significant in nations with developed economies and is growing in countries with rapidly growing economies. The reasons for this are complex but include increased availability to cheaper (and less nutritiou