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...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Galenos Yayinevi
2019-06-01
|
| Series: | Journal of Pediatric Research |
| Subjects: | |
| Online Access: |
http://jpedres.org/archives/archive-detail/article-preview/a-novel-mutation-in-fanconi-bickel-syndrome-diagno/27907
|