Variant in the allosteric domain of CPS1 protein associated with effectiveness of N-carbamoyl glutamate therapy in neonatal onset CPS1 deficiency

Post time 2024-6-17 17:39:22

journal：Journal of Pediatric Endocrinology and Metabolism

Authors：Vincenza Gragnaniello; Daniela Gueraldi; Andrea Puma; Anna Commone; Christian Loro; Chiara Cazzorla; Johannes Haberle; Alberto B. Burlina

Published date：2023-9-26

DOI：10.1515/jpem-2023-0210

PDF link：https://www.degruyter.com/document/doi/10.1515/jpem-2023-0210/xml

Article link：http://dx.doi.org/10.1515/jpem-2023-0210

Article Source：Walter de Gruyter GmbH。

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Post time 2024-6-17 17:39:23

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[De Gruyter] Variant in the allosteric domain of CPS1 protein associated with effectiveness of N-carbamoyl glutamate therapy in neonatal onset CPS1 deficiency

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