Biomaterial Database

[Tests for the detection of inborn errors of metabolism--urinary alpha-glucosidase analysis for the detection of glycogen storage disease type II (author's transl)]. 1978

K Soyama, and E Ono

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D008297	Male		Males
D011296	Prenatal Diagnosis	Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.	Diagnosis, Prenatal,Fetal Diagnosis,Fetal Imaging,Fetal Screening,Intrauterine Diagnosis,Antenatal Diagnosis,Antenatal Screening,Diagnosis, Antenatal,Diagnosis, Intrauterine,Prenatal Screening,Antenatal Diagnoses,Antenatal Screenings,Diagnosis, Fetal,Fetal Diagnoses,Fetal Imagings,Fetal Screenings,Imaging, Fetal,Intrauterine Diagnoses,Prenatal Diagnoses,Prenatal Screenings,Screening, Antenatal,Screening, Fetal,Screening, Prenatal
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
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