Long-term outcome of patients with urea cycle disorders and the question of neonatal screening
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology and Child Health
Link
http://link.springer.com/content/pdf/10.1007/s00431-003-1347-z.pdf
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1. The challenge of understanding and predicting phenotypic diversity in urea cycle disorders;Journal of Inherited Metabolic Disease;2023-10-10
2. Citrullinemia in a newborn: a case report;Russian Journal of Child Neurology;2022-12-17
3. Unfavorable clinical outcomes in patients with carbamoyl phosphate synthetase 1 deficiency;Clinica Chimica Acta;2022-02
4. The burden of pharmacological treatment on health-related quality of life in people with a urea cycle disorder: a qualitative study;Journal of Patient-Reported Outcomes;2021-10-25
5. Hyperammonemia in Inherited Metabolic Diseases;Cellular and Molecular Neurobiology;2021-10-19
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