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...
Uloženo v:
| Hlavní autoři: | , , , |
|---|---|
| Médium: | Kniha |
| Vydáno: |
Galenos Yayinevi,
2019-06-01T00:00:00Z.
|
| Témata: | |
| On-line přístup: | Connect to this object online. |
| Tagy: |
Přidat tag
Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!
|
Internet
Connect to this object online.3rd Floor Main Library
| Signatura: |
A1234.567 |
|---|---|
| Jednotka 1 | Dostupné |