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个人简介
Working as a biochemist and pediatrician in the field of Inborn Errors of Metabolism since 25 years, I developed a deep interest to understand the biochemical and molecular basis of disorders related to the Creatine metabolism, the so called Creatine Deficiency Syndromes. Also, while providing care for the very first patients, I realized the need to develop new treatment strategies for these ultra-rare conditions. Both, the more theoretical interest to understand the diseases and the practical aspect of designing treatments based on biochemical understanding, led me to establish a research group that is focused on
Creatine Deficiency Syndromes,
Regulation of Creatine Synthesis,
Pathophysiology of Guanidino Compounds (Creatine is one of them), and
Small Molecule Treatments.
Creatine Deficiency Syndromes,
Regulation of Creatine Synthesis,
Pathophysiology of Guanidino Compounds (Creatine is one of them), and
Small Molecule Treatments.
研究兴趣
论文共 170 篇作者统计合作学者相似作者
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HEALTH EXPECTATIONSno. 1 (2024): n/a-n/a
Taryn Diep, Lizzie Zhang, Colleen Le,Xiao-Bo Liu, Puja Patel, Stuti Bakshi,Ilona Tkachyova,Andreas Schulze,Gerald S. Lipshutz
Molecular Genetics and Metabolismno. 4 (2024): 108173
Molecular Genetics and Metabolismno. 4 (2024): 108203
John J. Mitchell,Michal Inbar-Feigenberg,Kim Angel,Pranesh Chakraborty,Monica Lamoureux,John Adams,Beth K. Potter, Sylvia Stockler-Ipsirolgu,Alison H. Howie, Alex Pace,Nancy J. Butcher,Cheryl Greenberg,
MOLECULAR GENETICS AND METABOLISMno. 2 (2024)
Natureno. 8009 (2024): 872-877
Natureno. 8017 (2024): E13-E13
Natureno. 8017 (2024): E13-E13
Genetics in Medicine Open (2024): 100923
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