Zobrazeno 1 - 10
of 168
pro vyhledávání: '"Uma, Ramaswami"'
Autor:
Karolina M. Stepien, Irena Žnidar, Beata Kieć-Wilk, Angel Jones, Daniela Castillo-García, Magy Abdelwahab, Shoshana Revel-Vilk, Ella Lineham, Derralynn Hughes, Uma Ramaswami, Tanya Collin-Histed
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
IntroductionGaucher disease (GD) is a rare, autosomal recessive lysosomal storage disorder caused by a deficiency in the enzyme glucocerebrosidase. The most common subtype in Europe and the USA, type 1 (GD1), is characterized by fatigue, cytopenia, s
Externí odkaz:
https://doaj.org/article/afd93c6653a640539485fd722a56332f
Autor:
Simona D’Amore, Mark Mckie, Andrew Fahey, David Bleloch, Giuseppina Grillo, Michael Hughes, Uma Ramaswami
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-10 (2024)
Abstract Background Fabry disease is a rare inherited disorder resulting from deficient α-galactosidase A enzyme activity. Common disease manifestations are sweating abnormalities, neuropathic pain, gastrointestinal symptoms and fatigue. Challenges
Externí odkaz:
https://doaj.org/article/1d51f47fe2a84c218dc39c32efe68f03
Autor:
Karolina M. Stepien, Alexander Broomfield, Duncan Cole, Patrick B. Deegan, Stuart Forshaw-Hulme, Derralynn Hughes, Ana Jovanovic, Liz Morris, Alison Muir, Uma Ramaswami
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)
Abstract Background Fabry disease is a rare, X-linked inherited lysosomal storage disorder, that manifests as a heterogeneous disease with renal, cardiac and nervous system involvement. The most common pain experienced by people with Fabry disease ar
Externí odkaz:
https://doaj.org/article/9bce522b34f64580a10095f385fbaf59
Autor:
Michael Beck, Uma Ramaswami, Elizabeth Hernberg-Ståhl, Derralynn A. Hughes, Christoph Kampmann, Atul B. Mehta, Kathleen Nicholls, Dau-Ming Niu, Guillem Pintos-Morell, Ricardo Reisin, Michael L. West, Jörn Schenk, Christina Anagnostopoulou, Jaco Botha, Roberto Giugliani
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-14 (2022)
Abstract Background Patient registries provide long-term, real-world evidence that aids the understanding of the natural history and progression of disease, and the effects of treatment on large patient populations with rare diseases. The year 2021 m
Externí odkaz:
https://doaj.org/article/2531f008988d4f348d67169f6b92893c
Publikováno v:
BMJ case reports. 15(5)
Fabry disease is an X-linked lysosomal storage disorder caused by reduced activity or absence of the alpha-galactosidase A enzyme resulting in systemic accumulation of glycosphingolipids. End-stage renal disease (ESRD) is a late-stage manifestation o
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Externí odkaz:
https://doaj.org/article/c516a075cd794fd39ca22c288d7c3e67
Autor:
Yuta Koto, Yoko Lee, Nozomi Hadano, Wakana Yamashita, Chikara Kokubu, Uma Ramaswami, Norio Sakai
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100854- (2022)
Introduction: Fabry disease is a rare, X-linked lysosomal storage disorder that begins in childhood with a wide variety of symptoms, including neuropathic pain, gastrointestinal abnormalities, and skin abnormalities. Despite the substantial impact of
Externí odkaz:
https://doaj.org/article/c7fb38e915b447a6922d30c0b942b089
Autor:
Atul Mehta, Uma Ramaswami, Joseph Muenzer, Roberto Giugliani, Kurt Ullrich, Tanya Collin-Histed, Zoya Panahloo, Hartmann Wellhoefer, Joel Frader
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Abstract Background Lysosomal storage disorders (LSDs) are rare genetic disorders, with heterogeneous clinical manifestations and severity. Treatment options, such as enzyme replacement therapy (ERT), substrate replacement therapy, and pharmacologica
Externí odkaz:
https://doaj.org/article/5477d878e2a34a8fbe566add29f16e5a
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:
Frontiers in Genetics, Vol 12 (2021)
Externí odkaz:
https://doaj.org/article/ec3f20aef50a4c3b90fdd80808ad395c