Where I see patients (2)
Selected research
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Cipaglucosidase alfa and miglustat for treatment of late-onset Pompe disease (LOPD): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG).
Genetics in medicine open
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Management of Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in Pregnancy.
Metabolites
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Novel surgical approach for intraventricular cerliponase alfa enzyme replacement therapy via central venous access device (CVAD) port in neuronal ceroid lipofuscinosis type 2 (CLN2) disease.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
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It’s a bird. It’s a plane. It’s a window washer! Dressed as a superhero to clean and brighten your day.
