A Novel Mutation in Fanconi Bickel Syndrome Diagnosed in the Neonatal Period
Fanconi Bickel Syndrome (FBS), also known as glycogen storage disease Type XI, is a rare autosomal recessive disorder. This syndrome has many different identified mutations and it is rarely diagnosed during the neonatal period. Our patient is a two-week old female newborn who was admitted to our hos...
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| Main Authors: | , , , |
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| Format: | Book |
| Published: |
Galenos Yayinevi,
2019-06-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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Connect to this object online.3rd Floor Main Library
| Call Number: |
A1234.567 |
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| Copy 1 | Available |