Early Diagnosis of Fanconi-Bickel Syndrome and a Novel Mutation inSLC2A2 Gene
Fanconi-Bickel syndrome is a metabolic disease caused by mutations in SCL2A2 gene. Hepatic and renal glycogen storage, fasting hypoglycemia, and renal tubular dysfunction are characteristics of the disease that is usually diagnosed at 6-10 months of age. Here, we present a case of Fanconi-Bickel syn...
Main Authors: | Ezgi Çelikboya, Mehmet Şerif Cansever, Tanyel Zübarioğlu, Gözde Yeşil, Nurver Akıncı |
---|---|
Format: | Article |
Language: | English |
Published: |
Galenos Yayinevi
2019-09-01
|
Series: | Haseki Tıp Bülteni |
Subjects: | |
Online Access: |
http://www.hasekidergisi.com/archives/archive-detail/article-preview/early-diagnosis-of-fanconi-bickel-syndrome-and-a-n/30329
|
Similar Items
Similar Items
-
Fanconi–Bickel syndrome in a Ugandan child – diagnostic challenges in resource-limited settings: a case report
by: Thereza Piloya, et al.
Published: (2020-09-01) -
Transient Neonatal Diabetes as a Presentation of Fanconi- Bickel Syndrome
by: Aria Setoodeh, et al.
Published: (2012-12-01) -
Transient Neonatal Diabetes as a Presentation of Fanconi- Bickel Syndrome
by: Aria Setoodeh, et al.
Published: (2012-12-01) -
A Novel Mutation in Fanconi Bickel Syndrome Diagnosed in the Neonatal Period
by: Şükran Keskin Gözmen, et al.
Published: (2019-06-01) -
Fanconi–Bickel Syndrome: A Review of the Mechanisms That Lead to Dysglycaemia
by: Sanaa Sharari, et al.
Published: (2020-08-01)