基本信息
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职业迁徙
个人简介
Research interests
Inherited metabolic diseases
Lysosomal storage diseases
Professional background
Chair, metabolic disorders clinical reference group
Chair of the scientific committee of the Recordati Rare Diseases Academy
Member of fetal, maternal and child health reference group of the National Screening Committee
研究兴趣
论文共 45 篇作者统计合作学者相似作者
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LANCETno. 10426 (2024): 583-586
Mark E. Roberts,Duncan Cole,Patrick B. Deegan,Tarekegn Geberhiwot, Derralynn Hughes,Robin Lachmann,Reena Sharma,Vipul Jain, Elizabeth Moffat,Jasmine Rutecki, Sophie Clarke
MOLECULAR GENETICS AND METABOLISMno. 2 (2024)
The American journal of clinical nutritionno. 4 (2024): 870-871
Robin Lachmann, Jaya Ganesh,Roberto Giugliani,Nathalie Guffon,Eugen Mengel,Maurizio Scarpa, Melissa Wasserstein, Mario Aguiar, Nicole Armstrong,Beth L. Thurberg, Monica Kumar
MOLECULAR GENETICS AND METABOLISMno. 2 (2024)
Heart (British Cardiac Society)pp.heartjnl-2023, (2024)
Genetics in Medicine Openno. 2 (2023): 107355-107355
Francesco Bonella,Melissa Wasserstein,Roberto Giugliani,Robin Lachmann,Imre Noth,Maurizio Scarpa,Wim A. Wuyts,Mario Aguiar, Nicole M. Armstrong,Andreas Jessel, Monica Kumar, Sara Waters,
EUROPEAN RESPIRATORY JOURNAL (2023)
Beth Linda Thurberg, Jaya Ganesh, Roberto Guigliani,Nathalie Guffon,Robin Lachmann,Eugen Mengel,Maurizio Scarpa,Melissa P. Wasserstein,Mario Aguiar,Nicole Armstrong,Monica Kumar
HEPATOLOGY (2023): S204-S206
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Orphanet Journal of Rare Diseasesno. 1 (2023): 1-12
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