Glycogen Storage Disease Type II
"Glycogen Storage Disease Type II" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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)
Descriptor ID |
D006009
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MeSH Number(s) |
C10.228.140.163.100.435.340 C16.320.565.189.435.340 C16.320.565.202.449.500 C16.320.565.595.554.340 C18.452.132.100.435.340 C18.452.648.189.435.340 C18.452.648.202.449.500 C18.452.648.595.554.340
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Concept/Terms |
Glycogen Storage Disease Type II- Glycogen Storage Disease Type II
- Acid Maltase Deficiency Disease
- Deficiency Disease, Acid Maltase
- Deficiency Disease, Lysosomal alpha-1,4-Glucosidase
- Generalized Glycogenosis
- Generalized Glycogenoses
- Glycogenoses, Generalized
- Glycogenosis, Generalized
- Glycogen Storage Disease Type 2
- Glycogenosis 2
- Glycogenosis Type II
- Type II, Glycogenosis
- Type IIs, Glycogenosis
- Lysosomal alpha-1,4-Glucosidase Deficiency Disease
- Lysosomal alpha 1,4 Glucosidase Deficiency Disease
- Pompe Disease
- Disease, Pompe
- Pompe's Disease
- Disease, Pompe's
- Pompes Disease
- GAA Deficiency
- Deficiencies, GAA
- Deficiency, GAA
- GAA Deficiencies
- GSD II
- Glycogen Storage Disease II
- Acid Alpha-Glucosidase Deficiency
- Acid Alpha Glucosidase Deficiency
- Acid Alpha-Glucosidase Deficiencies
- Alpha-Glucosidase Deficiencies, Acid
- Alpha-Glucosidase Deficiency, Acid
- Deficiencies, Acid Alpha-Glucosidase
- Deficiency, Acid Alpha-Glucosidase
Acid Maltase Deficiency- Acid Maltase Deficiency
- Acid Maltase Deficiencies
- Deficiencies, Acid Maltase
- Deficiency, Acid Maltase
- Maltase Deficiencies, Acid
- Alpha-1,4-Glucosidase Deficiency
- Alpha 1,4 Glucosidase Deficiency
- Alpha-1,4-Glucosidase Deficiencies
- Deficiencies, Alpha-1,4-Glucosidase
- Deficiency, Alpha-1,4-Glucosidase
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Below are MeSH descriptors whose meaning is more general than "Glycogen Storage Disease Type II".
- Diseases [C]
- Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
- Brain Diseases [C10.228.140]
- Brain Diseases, Metabolic [C10.228.140.163]
- Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
- Lysosomal Storage Diseases, Nervous System [C10.228.140.163.100.435]
- Glycogen Storage Disease Type II [C10.228.140.163.100.435.340]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Metabolism, Inborn Errors [C16.320.565]
- Brain Diseases, Metabolic, Inborn [C16.320.565.189]
- Lysosomal Storage Diseases, Nervous System [C16.320.565.189.435]
- Glycogen Storage Disease Type II [C16.320.565.189.435.340]
- Carbohydrate Metabolism, Inborn Errors [C16.320.565.202]
- Glycogen Storage Disease [C16.320.565.202.449]
- Glycogen Storage Disease Type II [C16.320.565.202.449.500]
- Lysosomal Storage Diseases [C16.320.565.595]
- Lysosomal Storage Diseases, Nervous System [C16.320.565.595.554]
- Glycogen Storage Disease Type II [C16.320.565.595.554.340]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Brain Diseases, Metabolic [C18.452.132]
- Brain Diseases, Metabolic, Inborn [C18.452.132.100]
- Lysosomal Storage Diseases, Nervous System [C18.452.132.100.435]
- Glycogen Storage Disease Type II [C18.452.132.100.435.340]
- Metabolism, Inborn Errors [C18.452.648]
- Brain Diseases, Metabolic, Inborn [C18.452.648.189]
- Lysosomal Storage Diseases, Nervous System [C18.452.648.189.435]
- Glycogen Storage Disease Type II [C18.452.648.189.435.340]
- Carbohydrate Metabolism, Inborn Errors [C18.452.648.202]
- Glycogen Storage Disease [C18.452.648.202.449]
- Glycogen Storage Disease Type II [C18.452.648.202.449.500]
- Lysosomal Storage Diseases [C18.452.648.595]
- Lysosomal Storage Diseases, Nervous System [C18.452.648.595.554]
- Glycogen Storage Disease Type II [C18.452.648.595.554.340]
Below are MeSH descriptors whose meaning is more specific than "Glycogen Storage Disease Type II".
This graph shows the total number of publications written about "Glycogen Storage Disease Type II" by people in UAMS Profiles by year, and whether "Glycogen Storage Disease Type II" was a major or minor topic of these publications.
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Year | Major Topic | Minor Topic | Total |
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2022 | 1 | 0 | 1 |
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Below are the most recent publications written about "Glycogen Storage Disease Type II" by people in Profiles over the past ten years.
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Prakash S, Penn JD, Jackson KE, Dean LW. Newborn screening for Pompe disease: Parental experiences and follow-up care for a late-onset diagnosis. J Genet Couns. 2022 12; 31(6):1404-1420.
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