Biomaterial Database

[Recognition of glycogenosis Type IV (amylopectinosis). Ultrastructural studies in 3 brothers with juvenile liver cirrhosis]. 1978

G Hübner, and P Meister, and I Albrecht, and J Schaub

UI	MeSH Term	Description	Entries
D008099	Liver	A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances.	Livers
D008103	Liver Cirrhosis	Liver disease in which the normal microcirculation, the gross vascular anatomy, and the hepatic architecture have been variably destroyed and altered with fibrous septa surrounding regenerated or regenerating parenchymal nodules.	Cirrhosis, Liver,Fibrosis, Liver,Hepatic Cirrhosis,Liver Fibrosis,Cirrhosis, Hepatic
D008168	Lung	Either of the pair of organs occupying the cavity of the thorax that effect the aeration of the blood.	Lungs
D008198	Lymph Nodes	They are oval or bean shaped bodies (1 - 30 mm in diameter) located along the lymphatic system.	Lymph Node,Node, Lymph,Nodes, Lymph
D008297	Male		Males
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D006008	Glycogen Storage Disease	A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalized storage of glycogen occurs, sometimes with prominent cardiac involvement.	Glycogenosis,Disease, Glycogen Storage,Diseases, Glycogen Storage,Glycogen Storage Diseases,Glycogenoses,Storage Disease, Glycogen,Storage Diseases, Glycogen
D006011	Glycogen Storage Disease Type IV	An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2.	Amylopectinosis,Andersen Disease,Brancher Deficiency,Glycogenosis 4,Andersen's Disease,Deficiency, Brancher,Gbe1 Deficiency,Glycogen Branching Enzyme Deficiency,Glycogen Storage Disease Type 4,Glycogenosis IV,Type IV Glycogenosis,Amylopectinoses,Andersens Disease,Brancher Deficiencies,Deficiencies, Brancher,Deficiencies, Gbe1,Deficiency, Gbe1,Disease, Andersen,Disease, Andersen's,Gbe1 Deficiencies,Glycogenoses, Type IV,Glycogenosis 4s,Glycogenosis IVs,Glycogenosis, Type IV,Type IV Glycogenoses
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man