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个人简介
Uma is a Consultant in Inherited Metabolic Disorders, Clinical Lead for the Lysosomal Disorders Unit at the Royal Free Hospital, London and honorary Associate Professor at Genetics and Genomics Medicine UCL.
Uma has twenty years experience in managing children and young adults with inherited metabolic disorders, with a special interest in lysosomal storage disorders. Uma leads the Royal Free Hospital lysosomal disorders transition service from paediatrics to adults. Uma has a special interest in clinical research relating to understanding of the natural history and disease progression of inherited metabolic disorders, with a specific interest in lysosomal disorders. Uma has an active research portfolio and has obtained grants for investigator initiated studies and is a CI/PI/Co-I for pivotal clinical trials of new therapies for lysosomal disorders. As of April 2023, Google Scholar 6749 citations, h-index 42; i10-index 76; over 150 peer reviewed and abstract publications in metabolic medicine and is a National Institute of Clinical Excellence (NICE) Topic Expert for lysosomal disorders; member of the Society of Inborn Errors of Metabolism, British Inherited Metabolic Disorders Group, Royal College of Paediatrics and Child Health; Communicating Editor for Journal of Inherited Metabolic Disorders (JIMD), personal tutor and examiner for undergraduate medical students at UCL, an invited speaker at many National and International conferences, including lysosomal patient organisations led conferences.
研究兴趣
论文共 212 篇作者统计合作学者相似作者
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Mathura Kugan,Simona D'Amore,Derek G. Burke, Udita Mitra, Sneha Patel, Mark A. Mckie, Jasmen Cabides,Derralynn Hughes,Hatim Y. Ebrahim,Simon Heales,Uma Ramaswami
MOLECULAR GENETICS AND METABOLISMno. 2 (2024)
Simona D’Amore,Mark Mckie, Andrew Fahey, David Bleloch,Giuseppina Grillo, Michael Hughes,Uma Ramaswami
Orphanet journal of rare diseasesno. 1 (2024): 13-13
Taylor Fields,Tatiana Bremova-Ertl,Uma Ramaswami,Marion Brands,Matthias Gautschi,Paul Gissen, Andreas Hahn, Simon Jones,Miriam Kolnikova, Laila Arash-Karps,Eugen Mengel, Julien Park,
MOLECULAR GENETICS AND METABOLISMno. 2 (2024): 121698
NEW ENGLAND JOURNAL OF MEDICINEno. 5 (2024): 421-431
MOLECULAR GENETICS AND METABOLISMno. 2 (2024)
Mathura Kugan,Simona D’Amore, Udita Mitra-Royhurst, Sneha Patel, Derek Burke,Simon Heales,Uma Ramaswami
Clinica Chimica Acta (2024): 119843-119843
Julien H Park, Tatiana Bremova-Ertl,Marion Brands,Tomas Foltan,Matthias Gautschi, Paul Gissen,Andreas Hahn,Simon Jones, Laila Arash-Kaps, Miriam Kolnikova,Marc Patterson,Susan Perlman,
medrxiv(2024)
MOLECULAR GENETICS AND METABOLISMno. 2 (2024)
Molecular Genetics and Metabolismno. 2 (2023): 107273-107273
The Cochrane database of systematic reviews (2023): CD012993-CD012993
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