Diagnostic challenges in ornithine transcarbamylase deficiency lacking genetic confirmation: liver biopsy versus human induced pluripotent stem cell technology.
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BORIS DOI
Publisher DOI
PubMed ID
40678075
Date of Publication
2025-09
Publication Type
Article
Subject(s)
Keyword(s)
Induced pluripotent stem cell technology
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Ornithine transcarbamylase deficiency
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Urea cycle disorder
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X-chromosomal inactivation
Language(s)
en
Contributor(s)
Additional Credits
Series
Molecular Genetics and Metabolism Reports
Publisher
Elsevier
ISSN
2214-4269
Access(Rights)
open.access