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Novel SPR mutation in first Chinese patient with sepiapterin reductase deficiency: urinary biomarker validation in oldest treated case

Published Online: 2025-05-01

Published Print: 2025-08

Authors

Zheng, Xiaosheng

Ying, Chenxin

Xie, Fei

Cen, Zhidong

Luo, Wei https://orcid.org/0000-0001-6951-7698
Funding

Funding for this research was provided by:

Key Research and Development Program of Zhejiang Province (2024C03100)
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Text and Data Mining valid from 2025-05-01

Version of Record valid from 2025-05-01
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Article History

Received: 12 February 2025

Accepted: 27 April 2025

First Online: 1 May 2025

Declarations

:

: This study was approved by the ethics committee of the Second Affiliated Hospital, Zhejiang University School of Medicine. Written informed consent was obtained from all participants.

: The authors declare that they have no conflict of interest.

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