Induced pluripotent stem cell technology as diagnostic tool in patients with suspected ornithine transcarbamylase deficiency lacking genetic confirmation
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology
Reference17 articles.
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2. Suggested guidelines for the diagnosis and management of urea cycle disorders: first revision;Haberle;J. Inherit. Metab. Dis.,2019
3. Genotype-phenotype correlations in ornithine Transcarbamylase deficiency: a mutation update;Caldovic;J. Genet. Genom.,2015
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5. Genetic analysis of carbamoylphosphate synthetase I and ornithine transcarbamylase deficiency using fibroblasts;Rapp;Eur. J. Pediatr.,2001
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