Article

Genotypic and Clinical Characteristics of Long-term Surviving Adult Patients with Urea Cycle Disorders: A Nationwide Study in Japan

2026-03-12

Abstract excerpt

<title>Abstract</title> <p> Background: Urea cycle disorders (UCDs) are rare inherited metabolic conditions characterized by impaired nitrogen disposal due to defects in enzymes or transporters. Although genotype–phenotype correlations have ever been tried in UCD patients, there is no report about the genetic background and long-term outcomes of adult survivors with UCDs. This study is aimed to investigate the...

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Literature Corpus work: c9596a43-a51b-5d38-a1a7-8c1579a928bd
DOI: 10.21203/rs.3.rs-8304911/v1

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