The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III
Abstract Background Glycogen storage disease type III (GSD III) is a rare autosomal recessive glycogenolysis disorder due to AGL gene variants, characterized by hepatomegaly, fasting hypoglycemia, hyperlipidemia, elevated hepatic transaminases, growth retardation, progressive myopathy, and cardiomyo...
Bewaard in:
| Hoofdauteurs: | , , , , , , |
|---|---|
| Formaat: | Boek |
| Gepubliceerd in: |
BMC,
2022-05-01T00:00:00Z.
|
| Onderwerpen: | |
| Online toegang: | Connect to this object online. |
| Tags: |
Voeg label toe
Geen labels, Wees de eerste die dit record labelt!
|
Internet
Connect to this object online.3rd Floor Main Library
| Plaatsingsnummer: |
A1234.567 |
|---|---|
| Kopie 1 | Beschikbaar |