Biomaterial Database

Factor XI and phosphorylase b kinase deficiency. 1995

B Sölder, and C Pechlaner, and W Sperl, and D Skladal, and F Kunz, and Y S Shin

Department of Pediatrics, University of Innsbruck, Austria.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D010764	Phosphorylase Kinase	An enzyme that catalyzes the conversion of ATP and PHOSPHORYLASE B to ADP and PHOSPHORYLASE A.	Glycogen Phosphorylase Kinase,Phosphorylase b Kinase,Kinase, Glycogen Phosphorylase,Kinase, Phosphorylase,Kinase, Phosphorylase b,Phosphorylase Kinase, Glycogen,b Kinase, Phosphorylase
D005173	Factor XI Deficiency	A hereditary deficiency of blood coagulation factor XI (also known as plasma thromboplastin antecedent or PTA or antihemophilic factor C) resulting in a systemic blood-clotting defect called hemophilia C or Rosenthal's syndrome, that may resemble classical hemophilia.	Hemophilia C,Rosenthal Syndrome,Deficiency, Factor 11,Deficiency, Factor Eleven,Deficiency, Factor XI,Factor 11 Deficiency,Factor Eleven Deficiency,Plasma Thromboplastin Antecedent Deficiency,Rosenthal's Syndrome,Deficiencies, Factor 11,Deficiencies, Factor Eleven,Deficiencies, Factor XI,Factor 11 Deficiencies,Factor Eleven Deficiencies,Factor XI Deficiencies,Rosenthal Syndromes,Rosenthal's Syndromes,Rosenthals Syndrome,Syndrome, Rosenthal,Syndrome, Rosenthal's
D005260	Female		Females
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
D006529	Hepatomegaly	Enlargement of the liver.	Enlarged Liver,Liver, Enlarged
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man