Nathalie Guffon

Reference Centre of inherited metabolic disease in Femme Mère Enfant Hospital, Hospices Civils of Lyon, France
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Clinical, treatment and monitoring of children and adults with inherited metabolic defects. Multidisciplinary assessment, ERT

Prof. Dr. Nathalie Guffon is head of the dept where she is who is responsible for Metabolic Diseases in Femme Mère Enfant Hospital in Lyon. She is implicated into Advisory Board in MPSI, MPSII, MPSIII, MPSVI, MPSIV and has been a Principal Investigator in international clinical studies of Enzyme Replacement Therapy in patients with MPS I, MPS II, MPS III, MPS IV, Gaucher, and Fabry disease.

Capacity to contribute to the project:

She has a long-standing interest in metabolic medicine and is involved in almost all available enzyme replacement therapies currently available for patients with lysosomal storage disorders. The department has taken part in previous clinical trials and concerning ERT for lysosomal storage disorders this includes MPSI, II, VI, Fabry, Gaucher and Pompe. All the necessary equipment and facilities to perform ERT in lysosomal storage disorders patients are available. Our clinical department is dedicated in the metabolic disorders.

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