[The automatic screening test for glycogen storage disease type II (Pompoe's disease) (author's transl)]. 1978

K Soyama, and E Ono, and I Fukui, and N Shimada, and T Kusunoki, and K Tanaka, and K Hashimoto, and K Sudo, and H Minegishi

UI MeSH Term Description Entries
D008403 Mass Screening Organized periodic procedures performed on large groups of people for the purpose of detecting disease. Screening,Mass Screenings,Screening, Mass,Screenings,Screenings, Mass
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is 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
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
D000520 alpha-Glucosidases Enzymes that catalyze the exohydrolysis of 1,4-alpha-glucosidic linkages with release of alpha-glucose. Deficiency of alpha-1,4-glucosidase may cause GLYCOGEN STORAGE DISEASE TYPE II. Acid Maltase,Lysosomal alpha-Glucosidase,Maltase,Maltases,Maltase-Glucoamylase,Neutral Maltase,Neutral alpha-Glucosidase,alpha-Glucosidase,Lysosomal alpha Glucosidase,Maltase Glucoamylase,Neutral alpha Glucosidase,alpha Glucosidase,alpha Glucosidases,alpha-Glucosidase, Lysosomal,alpha-Glucosidase, Neutral
D001322 Autoanalysis Method of analyzing chemicals using automation. Autoanalyses

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