Effective Newborn Screening for Type 1 and 3 Primary Hyperoxaluria

Effective Newborn Screening for Type 1 and 3 Primary Hyperoxaluria

Introduction: Newborn screening (NBS) programs for a defined set of eligible diseases have been enormously successful, but genomic NBS allowing for detection of additional treatable disorders has not been broadly implemented. All 3 types of primary hyperoxaluria (PH1–3) are rare autosomal recessive...

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Main Authors: Bernd Hoppe, Cristina Martin-Higueras, Lodovica Borghese, Sophie Kaspar, Björn Reusch, Bodo B. Beck, Adam Walli, Ella Janzen, Sebastian Hegert, Nils Janzen, Katharina Hohenfellner
Format: Article
Language:English
Published: Elsevier 2025-01-01
Series:Kidney International Reports
Subjects:
AGXT
genetic newborn screening
HOGA1
pilot study
primary hyperoxaluria
treatable genetic disease
Online Access:http://www.sciencedirect.com/science/article/pii/S2468024924019648
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