BIOMAT Database Logo BIOMAT Database Logo

[Immunochemical study of acid alpha-1,4-glucosidase in 7 patients with type II glycogenosis]. 1979

J Bienvenu, and M Mathieu, and C Collombel, and P Baltassat, and P Divry, and C Dorche, and J Cotte

UI MeSH Term Description Entries
D007120 Immunochemistry Field of chemistry that pertains to immunological phenomena and the study of chemical reactions related to antigen stimulation of tissues. It includes physicochemical interactions between antigens and antibodies.
D007223 Infant A child between 1 and 23 months of age. Infants
D008297 Male Males
D011817 Rabbits A burrowing plant-eating mammal with hind limbs that are longer than its fore limbs. It belongs to the family Leporidae of the order Lagomorpha, and in contrast to hares, possesses 22 instead of 24 pairs of chromosomes. Belgian Hare,New Zealand Rabbit,New Zealand Rabbits,New Zealand White Rabbit,Rabbit,Rabbit, Domestic,Chinchilla Rabbits,NZW Rabbits,New Zealand White Rabbits,Oryctolagus cuniculus,Chinchilla Rabbit,Domestic Rabbit,Domestic Rabbits,Hare, Belgian,NZW Rabbit,Rabbit, Chinchilla,Rabbit, NZW,Rabbit, New Zealand,Rabbits, Chinchilla,Rabbits, Domestic,Rabbits, NZW,Rabbits, New Zealand,Zealand Rabbit, New,Zealand Rabbits, New,cuniculus, Oryctolagus
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D005260 Female Females
D005959 Glucosidases Enzymes that hydrolyze O-glucosyl-compounds. (Enzyme Nomenclature, 1992) EC 3.2.1.-. Glucosidase
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
D006009 Glycogen Storage Disease Type II 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) Acid Maltase Deficiency Disease,Generalized Glycogenosis,Glycogenosis 2,Lysosomal alpha-1,4-Glucosidase Deficiency Disease,Pompe Disease,Acid Alpha-Glucosidase Deficiency,Acid Maltase Deficiency,Adult Glycogen Storage Disease Type II,Alpha-1,4-Glucosidase Deficiency,Deficiency Disease, Acid Maltase,Deficiency Disease, Lysosomal alpha-1,4-Glucosidase,Deficiency of Alpha-Glucosidase,GAA Deficiency,GSD II,GSD2,Glycogen Storage Disease II,Glycogen Storage Disease Type 2,Glycogen Storage Disease Type II, Adult,Glycogen Storage Disease Type II, Infantile,Glycogen Storage Disease Type II, Juvenile,Glycogenosis Type II,Infantile Glycogen Storage Disease Type II,Juvenile Glycogen Storage Disease Type II,Pompe's Disease,Acid Alpha Glucosidase Deficiency,Acid Alpha-Glucosidase Deficiencies,Acid Maltase Deficiencies,Alpha 1,4 Glucosidase Deficiency,Alpha-1,4-Glucosidase Deficiencies,Alpha-Glucosidase Deficiencies,Alpha-Glucosidase Deficiencies, Acid,Alpha-Glucosidase Deficiency,Alpha-Glucosidase Deficiency, Acid,Deficiencies, Acid Alpha-Glucosidase,Deficiencies, Acid Maltase,Deficiencies, Alpha-1,4-Glucosidase,Deficiencies, GAA,Deficiency of Alpha Glucosidase,Deficiency, Acid Alpha-Glucosidase,Deficiency, Acid Maltase,Deficiency, Alpha-1,4-Glucosidase,Deficiency, GAA,Disease, Pompe,Disease, Pompe's,GAA Deficiencies,GSD2s,Generalized Glycogenoses,Glycogenoses, Generalized,Glycogenosis, Generalized,Lysosomal alpha 1,4 Glucosidase Deficiency Disease,Maltase Deficiencies, Acid,Pompes Disease,Type II, Glycogenosis,Type IIs, Glycogenosis
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

Related Publications

J Bienvenu, and M Mathieu, and C Collombel, and P Baltassat, and P Divry, and C Dorche, and J Cotte
[Glycogenosis type II; acid alpha-glucosidase deficiency].
December 1995, Nihon rinsho. Japanese journal of clinical medicine,
J Bienvenu, and M Mathieu, and C Collombel, and P Baltassat, and P Divry, and C Dorche, and J Cotte
Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease).
March 2002, Current molecular medicine,
J Bienvenu, and M Mathieu, and C Collombel, and P Baltassat, and P Divry, and C Dorche, and J Cotte
Leucocyte alpha-1,4- and alpha-1,6-glucosidase activities towards oligosaccharides in late onset glycogenosis type II.
August 1990, The Tohoku journal of experimental medicine,
J Bienvenu, and M Mathieu, and C Collombel, and P Baltassat, and P Divry, and C Dorche, and J Cotte
Preparation of monoclonal antibodies against acid alpha-D-glucosidase for study of Chinese glycogenosis type II patients.
August 1992, Hybridoma,
J Bienvenu, and M Mathieu, and C Collombel, and P Baltassat, and P Divry, and C Dorche, and J Cotte
Lymphocyte alpha-glucosidase in late-onset glycogenosis type II.
April 1989, Archives of neurology,
J Bienvenu, and M Mathieu, and C Collombel, and P Baltassat, and P Divry, and C Dorche, and J Cotte
Defects in synthesis, phosphorylation, and maturation of acid alpha-glucosidase in glycogenosis type II.
July 1985, The Journal of biological chemistry,
J Bienvenu, and M Mathieu, and C Collombel, and P Baltassat, and P Divry, and C Dorche, and J Cotte
Biosynthesis of acid alpha-glucosidase in late-onset forms of glycogenosis type II (Pompe's disease).
December 1982, FEBS letters,
J Bienvenu, and M Mathieu, and C Collombel, and P Baltassat, and P Divry, and C Dorche, and J Cotte
Breakdown of lysosomal glycogen in cultured fibroblasts from glycogenosis type II patients after uptake of acid alpha-glucosidase.
July 1987, Journal of the neurological sciences,
J Bienvenu, and M Mathieu, and C Collombel, and P Baltassat, and P Divry, and C Dorche, and J Cotte
Muscle as a putative producer of acid alpha-glucosidase for glycogenosis type II gene therapy.
July 2002, Human molecular genetics,
J Bienvenu, and M Mathieu, and C Collombel, and P Baltassat, and P Divry, and C Dorche, and J Cotte
Partial characterization of leucocyte alpha-glucosidase in late onset glycogenosis type II.
April 1989, The Tohoku journal of experimental medicine,
Copied contents to your clipboard!