|
Kidney Papillary Necrosis
|
C13.351.968.419.493 |
|
|
Glycogen Synthase
|
D006006 |
[An enzyme that catalyzes the transfer of D-glucose from UDPglucose into 1,4-alpha-D-glucosyl chains. EC 2.4.1.11.
] |
|
Glycogen-Synthase-D Phosphatase
|
D006007 |
[An enzyme that catalyzes the conversion of phosphorylated, inactive glycogen synthase D to active dephosphoglycogen synthase I. EC 3.1.3.42.
] |
|
Glycogen Storage Disease
|
D006008 |
[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.
] |
|
Glycogen Storage Disease Type II
|
D006009 |
[An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE deficiency. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE, SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes, Textbook of Child Neurology, 5th ed, pp73-4)
] |
|
Iron Chelating Agents
|
D27.720.832.500.410 |
|
|
Glycodeoxycholic Acid
|
D006002 |
[A bile salt formed in the liver by conjugation of deoxycholate with glycine, usually as the sodium salt. It acts as a detergent to solubilize fats for absorption and is itself absorbed. It is used as a cholagogue and choleretic.
] |
|
Glycogen
|
D006003 |
|
|
Glycogen Debranching Enzyme System
|
D006004 |
[1,4-alpha-D-Glucan-1,4-alpha-D-glucan 4-alpha-D-glucosyltransferase/dextrin 6 alpha-D-glucanohydrolase. An enzyme system having both 4-alpha-glucanotransferase (EC 2.4.1.25) and amylo-1,6-glucosidase (EC 3.2.1.33) activities. As a transferase it transfers a segment of a 1,4-alpha-D-glucan to a new 4-position in an acceptor, which may be glucose or another 1,4-alpha-D-glucan. As a glucosidase it catalyzes the endohydrolysis of 1,6-alpha-D-glucoside linkages at points of branching in chains of 1,4-linked alpha-D-glucose residues. Amylo-1,6-glucosidase activity is deficient in glycogen storage disease type III.
] |
|
Recognition, Psychology
|
D021641 |
[The knowledge or perception that someone or something present has been previously encountered.
] |
|
Phosphorylases
|
D006005 |
[A class of glucosyltransferases that catalyzes the degradation of storage polysaccharides, such as glucose polymers, by phosphorolysis in animals (GLYCOGEN PHOSPHORYLASE) and in plants (STARCH PHOSPHORYLASE).
] |
|
Glycogen Storage Disease Type III
|
D006010 |
[An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent.
] |
|
Glycogen Storage Disease Type IV
|
D006011 |
[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.
] |
|
Glycogen Storage Disease Type V
|
D006012 |
[Glycogenosis due to muscle phosphorylase deficiency. Characterized by painful cramps following sustained exercise.
] |
|
Porphyria, Acute Intermittent
|
C16.320.850.742.150 |
|
|
Polycomb Repressive Complex 2
|
D05.500.781.750 |
|
|
Polycomb-Group Proteins
|
D05.500.781 |
|
|
Defensins
|
D12.644.050.200 |
|
|
Antimicrobial Cationic Peptides
|
D12.644.050 |
|
|
HLA-DP beta-Chains
|
D23.050.705.552.450.400.420.750 |
|
