Clinical and genetic analysis of a case of late onset carbamoyl phosphate synthase I deficiency caused by CPS1 mutation and literature review
Abstract Background Carbamoyl phosphate synthetase I defect (CPS1D) is a rare disease with clinical case reports mainly in early neonates or adults, with few reports of first onset in late neonatal to childhood. We studied the clinical and genotypic characteristics of children with childhood onset C...
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| Main Authors: | , , , , , , , , , , , , , |
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| Format: | Book |
| Published: |
BMC,
2023-06-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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