Concept information
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Término preferido
Glycogen Storage Disease Type VIII
Notice: Undefined index: in /var/www/html/model/Concept.php on line 545
Tipo
-
mesh:Descriptor
Definición
- An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon.
Concepto genérico
Etiquetas alternativas
- Glycogenosis 8
En otras lenguas
-
francés
-
Glycogénose de type 8
URI
http://data.loterre.fr/ark:/67375/JVR-QGXF7H6W-Z
{{label}}
{{#each values }} {{! loop through ConceptPropertyValue objects }}
{{#if prefLabel }}
{{/if}}
{{/each}}
{{#if notation }}{{ notation }} {{/if}}{{ prefLabel }}
{{#ifDifferentLabelLang lang }} ({{ lang }}){{/ifDifferentLabelLang}}
{{#if vocabName }}
{{ vocabName }}
{{/if}}