Nathalie Guffon
Lyon, France
Last Updated: 09/26/2026
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Found 84 publications
Multiplex MSMS measurement of lysosomal enzymes enables incidental diagnosis of acid sphingomyelinase deficiency in patients evaluated for Gaucher disease.
Journal: Molecular genetics and metabolism
Published: March 07, 2026
Plasma KL-6 reflects pulmonary severity and longitudinal response to enzyme replacement therapy in acid sphingomyelinase deficiency type B.
Journal: Molecular genetics and metabolism reports
Published: January 28, 2026
2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C.
Journal: Journal of inherited metabolic disease
Published: October 31, 2025
Clinical expert opinion on the role of elosulfase alfa in non-ambulatory individuals with Morquio A syndrome.
Journal: Molecular genetics and metabolism reports
Published: October 14, 2025
Clinical outcomes of exclusive enzyme therapy (laronidase) in a cohort of patients with mucopolysaccharidosis type I.
Journal: Orphanet journal of rare diseases
Published: August 20, 2025
Safety profile of idursulfase administered at home in patients with mucopolysaccharidosis II enrolled in the Hunter Outcome Survey.
Journal: Molecular genetics and metabolism
Published: June 17, 2025
Long-Term Safety and Clinical Outcomes With Olipudase Alfa Enzyme Replacement Therapy in Children and Adolescents With Acid Sphingomyelinase Deficiency.
Journal: Journal of inherited metabolic disease
Published: May 06, 2025
Long-term outcomes of elosulfase alfa enzyme replacement therapy in adults with MPS IVA: a sub-analysis of the Morquio A Registry Study (MARS).
Journal: Orphanet journal of rare diseases
Published: April 30, 2025
Evolution of mobility, pain/discomfort, self-care, and mental health in patients with alpha-mannosidosis: an international caregiver and patient survey.
Journal: Orphanet journal of rare diseases
Published: December 18, 2024
Intrathecal idursulfase-IT in children younger than 3 years with neuronopathic mucopolysaccharidosis II in a single-arm, open-label, phase 2/3 substudy and extension.
Journal: JIMD reports
Published: May 22, 2024
Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase-IT on cognitive function in siblings with neuronopathic mucopolysaccharidosis II.
Journal: Journal of inherited metabolic disease
Published: May 07, 2024
Last Updated: 09/26/2026