Two novel compound heterozygous mutations in NGLY1as a cause of congenital disorder of deglycosylation: a case presentation
Abstract Background NGLY1-related congenital disorder of deglycosylation (NGLY1-CDDG) is a multisystemic neurodevelopmental disorder in which affected individuals show developmental delay, epilepsy, intellectual disability, abnormal liver function, and poor growth. This study presents a 10-month-old...
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| Main Authors: | , , , , , , |
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| Format: | Book |
| Published: |
BMC,
2020-06-01T00:00:00Z.
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| Subjects: | |
| Online Access: | Connect to this object online. |
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Internet
Connect to this object online.3rd Floor Main Library
| Call Number: |
A1234.567 |
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| Copy 1 | Available |