基本信息
views: 15
Career Trajectory
Bio
I am a Clinician Scientist with a special interest in Inherited Metabolic Diseases. I have chosen rare monogenic diseases as unique models to discover novel biological mechanisms and therapeutic targets for rare and common diseases.
My main research is to understand how the metabolism of arginine and its downstream metabolite nitric oxide (NO), affect the central nervous system from neurodevelopment, to bioenergetics and neurodegeneration. In parallel, I am developing novel therapies for Inherited Metabolic Diseases from small molecules to AAV or lentiviral gene therapies or nRNA therapy. I have a special interest in a rare group of diseases, called urea cycle defects.
I am clinically active and I am a consultant in the Metabolic Medicine Unit at Great Ormond Street Hospital for Children, London, UK.
My work is supported by the UK Medical Research Council, Action Medical Research, Great Ormond Street Hospital Charity.
Research Interests
Papers共 118 篇Author StatisticsCo-AuthorSimilar Experts
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Dany Perocheau,Sonam Gurung,Loukia Touramanidou,Claire Duff, Garima Sharma, Neil Sebire,Patrick F Finn,Alex Cavedon,Summar Siddiqui,Lisa Rice,Paolo G V Martini,Andrea Frassetto,
Journal of inherited metabolic diseaseno. 1 (2024): 5-6
JOURNAL OF INHERITED METABOLIC DISEASEno. 1 (2024): 9-21
STEM CELL RESEARCH (2024): 103365-103365
MOLECULAR THERAPYno. 4 (2023): 36-36
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bioRxiv (Cold Spring Harbor Laboratory) (2023)
crossref(2023)
JIMD reportsno. 5 (2023): 317-326
Molecular Genetics and Metabolismno. 2 (2023): 107169-107169
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Author Statistics
#Papers: 118
#Citation: 1946
H-Index: 24
G-Index: 43
Sociability: 7
Diversity: 3
Activity: 39
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