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alpha-glucosidase (gaa) in cultured fibroblasts
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what is 'alpha-glucosidase (gaa) in cultured fibroblasts'?
Definition for Alpha-glucosidase (GAA) in cultured fibroblasts
Alpha-glucosidase (GAA) in cultured fibroblasts is also known as: GAA enzyme activity cultured fibroblasts
Alpha-glucosidase (GAA) in cultured fibroblasts is a medical procedure used for such diagnoses as: metabolic myopathies.
related diagnosis for 'alpha-glucosidase (gaa) in cultured fibroblasts'
1 - 1 of
1
diagnosis
metabolic myopathies
inherited muscle disorders due to enzyme deficiencies
Alpha-glucosidase (GAA) in cultured fibroblasts and metabolic myopathies
related procedure for 'alpha-glucosidase (gaa) in cultured fibroblasts'/associated diagnoses
1 - 5 of
38
procedures
Alpha-glucosidase (GAA) activity lymphocytes
Alpha-glucosidase (GAA) in cultured fibroblasts and Alpha-glucosidase (GAA) activity lymphocytes
Alpha-glucosidase (GAA) enzyme activity dried blood spot
Alpha-glucosidase (GAA) in cultured fibroblasts and Alpha-glucosidase (GAA) enzyme activity dried blood spot
BUN
Alpha-glucosidase (GAA) in cultured fibroblasts and BUN
Complete Blood Count
Alpha-glucosidase (GAA) in cultured fibroblasts and Complete Blood Count
Complete metabolic panel
Alpha-glucosidase (GAA) in cultured fibroblasts and Complete metabolic panel
ECHOcardiogram
Alpha-glucosidase (GAA) in cultured fibroblasts and ECHOcardiogram
EKG
Electrocardiogram
Alpha-glucosidase (GAA) in cultured fibroblasts and EKG
Electromyogram (EMG)
Alpha-glucosidase (GAA) in cultured fibroblasts and Electromyogram (EMG)
Electron Microscopy
Alpha-glucosidase (GAA) in cultured fibroblasts and Electron Microscopy
Enzyme assays
Alpha-glucosidase (GAA) in cultured fibroblasts and Enzyme assays
Forearm ischemic exercise test
Alpha-glucosidase (GAA) in cultured fibroblasts and Forearm ischemic exercise test
Hearing test
standard technique of representing hearing loss
Alpha-glucosidase (GAA) in cultured fibroblasts and Hearing test
Lactate dehydrogenase (LDH)
Alpha-glucosidase (GAA) in cultured fibroblasts and Lactate dehydrogenase (LDH)
Lactate dehydrogenase (LDH) in muscles and red cells
Alpha-glucosidase (GAA) in cultured fibroblasts and Lactate dehydrogenase (LDH) in muscles and red cells
Liver Function Tests
elevated liver enzymes
Alpha-glucosidase (GAA) in cultured fibroblasts and Liver Function Tests
Molecular Genetic Studies
Alpha-glucosidase (GAA) in cultured fibroblasts and Molecular Genetic Studies
Muscle biopsy
Alpha-glucosidase (GAA) in cultured fibroblasts and Muscle biopsy
Nerve conduction studies (NCS)
Alpha-glucosidase (GAA) in cultured fibroblasts and Nerve conduction studies (NCS)
Peripheral blood smear
Alpha-glucosidase (GAA) in cultured fibroblasts and Peripheral blood smear
Reticulocyte count
Alpha-glucosidase (GAA) in cultured fibroblasts and Reticulocyte count
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related medication for 'alpha-glucosidase (gaa) in cultured fibroblasts'/associated diagnoses
1 - 5 of
38
drugs
intravenous recombinant acid alpha-glucosidase (rhgaa)
Alpha-glucosidase (GAA) in cultured fibroblasts and intravenous recombinant acid alpha-glucosidase (rhgaa)
The following are types of physicians relevant for 'Alpha-glucosidase (GAA) in cultured fibroblasts'.
related types of physicians 'adolescent medicine, family practitioner, genetics specialist, internist, metabolic specialist, neurologist, neurosurgeon'
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web search results for 'alpha-glucosidase (gaa) in cultured fibroblasts'?
Results
1 - 50
- Alpha-glucosidase (GAA) in cultured fibroblasts
Rapid diagnosis of late-onset Pompe disease by fluorometric assay of ...
... in Pompe disease is insufficient lysosomal acid alpha-glucosidase (GAA) activity ... Cells, Cultured. Fibroblasts/enzymology. Fluorometry/methods ...
http://www.be-md.ncbi.nlm.nih.gov/pubmed/17270480
www.be-md.ncbi.nlm.nih.gov
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summary
Glycogen Storage Disease Type II (Pompe Disease) -- GeneReviews -- NCBI ...
... acid alpha-glucosidase (GAA) enzyme activity in cultured skin fibroblasts or ... novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=gsd2
www.ncbi.nlm.nih.gov
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summary
The map of chromosome 20.
... genes for human acid alpha-glucosidase (GAA) and adenosine deaminase (ADA) by ... to Cholesterol in L-Cells after Hybridization with Human Fibroblasts. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1051606
www.pubmedcentral.nih.gov
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summary
Glycogen Storage Disease Type II (Pompe Disease)
[Acid Alpha-Glucosidase Deficiency, Acid Maltase Deficiency, GAA Deficiency, GSD ... of acid alpha-glucosidase (GAA) enzyme activity in cultured skin fibroblasts ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
www.ncbi.nlm.nih.gov
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summary
Adult and infantile glycogenosis type II in one family, explained by ...
... and in situ localization of acid alpha-glucosidase in mutant fibroblasts. ... possible clinical significance of the lysosomal alpha-glucosidase GAA*2 allele. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1683537
www.pubmedcentral.nih.gov
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summary
[Clinical and molecular genetic study on two patients of the juvenile ...
... functional deficiency of acid alpha-glucosidase (GAA) that leads to glycogen ... was confirmed by alpha-glucosidase determination in cultured fibroblasts. ...
http://www.ncbi.nlm.nih.gov/pubmed/18211760?dopt=Citation
www.ncbi.nlm.nih.gov
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summary
Abnormal mannose-6-phosphate receptor trafficking impairs recombinant ...
Fibroblasts were cultured in the presence of variable concentrations ... of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=2635360
www.pubmedcentral.nih.gov
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summary
Biochemical and pharmacological characterization of different ...
... glycogen in multiple tissues due to a deficiency of acid alpha-glucosidase (GAA) ... Cells, Cultured. Cricetinae. Cricetulus. Drug Evaluation, Preclinical ...
http://www.ncbi.nlm.nih.gov/pubmed/18538603?ordinalpos
www.ncbi.nlm.nih.gov
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summary
GERp95, a Membrane-associated Protein that Belongs to a Family of ...
Induction of cultured cells to undergo morphological changes can result in the ... proteins as the alpha- and beta-subunits of the alpha-glucosidase II. J Biol Chem. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pub...
www.pubmedcentral.nih.gov
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summary
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