Rare, deadly genetic disease successfully treated in utero for first time ucsf nejm
The protocol development and the collection, shipping, and analysis of samples were supported by funds from the Center for Maternal–Fetal Precision Medicine , the Y.T. and Alice Chen Pediatric Genetics and Genomics Research Center , Newborn Screening Ontario, CHEO Research Institute, and a grant from the National Institutes of Health. Sanofi Genzyme provided the enzyme for this patient.Drs. Cohen and Chakraborty and Drs. Kishnani and MacKenzie contributed equally to this article.
We thank the patient and her family for their participation; Ankit Desai, Akos Herzeg, Eleanor Rodriguez-Rassi, Seung-Hye Jung, Catherine Rehder, and Erika Bariciak for helpful discussions regarding this work; Nathan McIntosh, Deidre Kelly, Wendy Mears, and Alan Mears for helpful discussions and for preparing all the fetal samples for analysis; and Pam Derish for critical reading of an earlier version of the manuscript.
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