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Anne-Sophie Guemann

Paris Descartes University

4

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25

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Effect of the Enzyme Replacement Therapy on Hypertrophic Cardiomyopathy in an Infant with the CRIM-Negative Pompe’s Disease

2020 Pediatrics and Neonatology
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Abnormal Ketone Bodies in a 22-Month-Old Boy Presenting with Recurrent Vomiting and Metabolic Acidosis

2019 Clinical Chemistry
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Cardiac function and exercise adaptation in 8 children with LPIN1 mutations

2018 Molecular Genetics and Metabolism
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Autism spectrum disorders in propionic acidemia patients

2018 Journal of Inherited Metabolic Disease
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