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urinary hexosaminidase a
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what is 'urinary hexosaminidase a'?
Definition for urinary hexosaminidase A
urinary hexosaminidase A is also known as: urine hexosaminidase A
urinary hexosaminidase A is a medical procedure used for such diagnoses as: Tay Sachs disease.
related diagnosis for 'urinary hexosaminidase a'
1 - 1 of
1
diagnosis
Tay Sachs disease
accumulation of G2 gangliosides in brain and body tissues
urinary hexosaminidase A and Tay Sachs disease
related procedure for 'urinary hexosaminidase a'/associated diagnoses
1 - 5 of
12
procedures
Brain MRI
urinary hexosaminidase A and Brain MRI
Comprehensive eye exam
urinary hexosaminidase A and Comprehensive eye exam
Developmental testing
urinary hexosaminidase A and Developmental testing
EEG - Electroencephalogram
urinary hexosaminidase A and EEG - Electroencephalogram
Hex A (HEXA) Gene Mutation
urinary hexosaminidase A and Hex A (HEXA) Gene Mutation
Lysosomal enzymes
urinary hexosaminidase A and Lysosomal enzymes
Molecular Genetic Studies
urinary hexosaminidase A and Molecular Genetic Studies
Nutritional counseling
urinary hexosaminidase A and Nutritional counseling
Physical and Occupational Therapy
Arthritis Physical and Occupational Therapy
urinary hexosaminidase A and Physical and Occupational Therapy
hexosaminidase A levels in blood
urinary hexosaminidase A and hexosaminidase A levels in blood
hexosaminidase A levels in tissues
urinary hexosaminidase A and hexosaminidase A levels in tissues
umbilical cord blood transplant
urinary hexosaminidase A and umbilical cord blood transplant
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related medication for 'urinary hexosaminidase a'/associated diagnoses
1 - 5 of
12
drugs
The following are types of physicians relevant for 'urinary hexosaminidase A'.
related types of physicians 'family practitioner, genetics specialist, internist'
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web search results for 'urinary hexosaminidase a'?
Results
1 - 50
- urinary hexosaminidase A
Isolation of beta-N-acetylhexosaminidase from rabbit semen and its role ...
... of normal human urinary N-acetyl-beta-hexosaminidase A by affinity chromatography. ... and homozygotes by serum hexosaminidase assay. N Engl J Med. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1162282
www.pubmedcentral.nih.gov
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Ganglioside storage, hexosaminidase lability, and urinary ...
Ganglioside storage, hexosaminidase lability, and urinary oligosaccharides in ... Hexosaminidase A. Humans. Isoenzymes/metabolism. Oligosaccharides/urine ...
http://www.ncbi.nlm.nih.gov/pubmed/2948136
www.ncbi.nlm.nih.gov
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Human ?-D-N-Acetylhexosaminidases A and B: Expression and Linkage ...
However, hexosaminidase A was never expressed in cell hybrids in the absence of ... Malformations of kidney and urinary tract in common chromosomal aberrations. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=388272
www.pubmedcentral.nih.gov
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Molecular basis of an adult form of beta-hexosaminidase B deficiency ...
... vitro GM2 hydrolysis compared to normal urinary Hex A. In other cDNA species ... Hexosaminidase A. Hexosaminidase B. beta-N-Acetylhexosaminidases. Grant Support: ...
http://www.ncbi.nlm.nih.gov/pubmed/1720305
www.ncbi.nlm.nih.gov
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Apparent deficiency of hexosaminidase A in healthy members of a family ...
Navon R, Padeh B. Urinary test for identification of Tay-Sachs genotypes. J Pediatr. ... GM2 gangliosidosis: partial deficiency of hexosaminidase A. J Pediatr. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1762538
www.pubmedcentral.nih.gov
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A study of highly purified mucolipidosis III urinary N-acetyl-beta ...
A study of highly purified mucolipidosis III urinary N-acetyl-beta ... diseases: the assignment of genes for hexosaminidase A and B to individual human ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1158385
www.pubmedcentral.nih.gov
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HEXB - Wikipedia, the free encyclopedia
a b "Entrez Gene: HEXB hexosaminidase B (beta polypeptide) ... Ganglioside storage, hexosaminidase lability, and urinary oligosaccharides in ...
http://en.wikipedia.org/wiki/HEXB
en.wikipedia.org
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wwwn.cdc.gov/dls/genetics/qualityaccess/files/Andy_Faucett.ppt
Tay-Sachs = Hexosaminidase A Deficiency ... (GAG) (heparan and dermatan sulphate) urinary excretion is a useful preliminary test. ...
http://wwwn.cdc.gov/dls/genetics/qualityaccess/files/Andy_Faucett.ppt
wwwn.cdc.gov
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Urinary excretion of beta 2-glycoprotein-1 (apolipoprotein H) and other ...
A sandwich enzyme-linked immunosorbent assay for beta 2-glycoprotein I. Ann Clin ... B, Thysell H. Urinary beta-hexosaminidase excretion in polycystic kidney disease. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=495177
www.pubmedcentral.nih.gov
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Biomarkers of Heavy Drinking
Bendtsen, P.; Jones, A.W.; and Helander, A. Urinary excretion of methanol and 5 ... Hultberg, B.; Isaksson, A.; and Jansson, L. ??hexosaminidase in serum from ...
http://pubs.niaaa.nih.gov/publications/Assesing%20Alcohol/biomarkers.htm
pubs.niaaa.nih.gov
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National Inventory of Clinical Laboratory Testing Services (NICLTS ...
Beta-hexosaminidase A and B. Biotinidase. Beta-galactosidase. Iron. Iron. Iron Bind Cap ... Urinary Sediment Microscopic Elements. Urine Dipstick or Tablet ...
http://wwwn.cdc.gov/mlp/nicltsal.aspx
wwwn.cdc.gov
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Lysosomal Disease
Normally, the hexosaminidase a and b subunits form two catalytically active ... There was urinary excretion of a disaccharide, b -mannose-glcNAc, and heparan sulfate. ...
http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=bnchm.section.2904
www.ncbi.nlm.nih.gov
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Arylsulfatase A Deficiency -- GeneReviews -- NCBI Bookshelf
For example, in hexosaminidase A deficiency, the term "pseudodeficiency allele" ... Urinary excretion of sulfatides. Metachromatic lipid deposits in a nerve or ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mld
www.ncbi.nlm.nih.gov
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ChemIDPlus/HSDB 108-86-1 Toxicity - National Toxicology Program
Hexosaminidase activity increased significantly in urine of mice ... dose alone caused a significant increase in urinary excretion of thioethers and ...
http://ntp.niehs.nih.gov/index.cfm?objectid=E87C1B6D-BDB5-82F8-FD2793EA54CD9B83
ntp.niehs.nih.gov
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New Descriptors by Tree Subcategory - 2008
Hexosaminidase A. Hexosaminidase B. HIV Reverse Transcriptase. Lim Kinases ... G8 (Reproductive and Urinary Physiology) Pollination ...
http://www.nlm.nih.gov/mesh/newbysub2008.html
www.nlm.nih.gov
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List of genetic disorders - Wikipedia, the free encyclopedia
Hexosaminidase A deficiency. see Tay-Sachs disease ... Malignant tumor of urinary bladder. see bladder cancer. Mammary cancer. see breast cancer ...
http://en.wikipedia.org/wiki/List_of_genetic_disorders
en.wikipedia.org
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Markers to Detect Drinking During Pregnancy
hexosaminidase ... · Urinary dolichols are chemicals found in high levels in ... R. K. ; HARIN, A. ; AND VARTOLO, M. Increased urinary dolichol in newborns whose ...
http://pubs.niaaa.nih.gov/publications/arh25-3/210-218.htm
pubs.niaaa.nih.gov
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Krabbe Disease - GeneReviews
Disease overview, diagnosis, clinical description, testing, genetic counseling, and related resources. From the National Center for Biotechnology Information (NCBI) bookshelf.
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=krabbe
www.ncbi.nlm.nih.gov
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Urinary lysosomal hydrolases in mucolipidosis II and mucolipidosis III.
... Sarlieve L, Manacorda A. Urinary glycolipids in Fabry's disease. ... Cell disease: desialylation of beta-hexosaminidase and its effect on uptake by fibroblasts. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1186389
www.pubmedcentral.nih.gov
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All Tests
Hexosaminidase, A & Total, Serum. HEXB. Mayo Medical Labs. Hgb F RBC and Hgb F Reticulocytes ... Beta HCG, Urinary Chorionic Gonadotropin Qualitative ...
http://cclnprod.cc.nih.gov/dlm/testguide.nsf/TestIndex?OpenForm&Count=5000/
cclnprod.cc.nih.gov
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Arylsulfatase A Deficiency
production is highly variable, urinary sulfatide excretion is referenced on the basis of ... hexosaminidase A deficiency (including Tay-Sachs disease) ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
www.ncbi.nlm.nih.gov
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Early and severe sensory loss in three adult siblings with ...
Motor neuron disease and adult hexosaminidase A deficiency in two families: ... Ganglioside storage, hexosaminidase lability, and urinary oligosaccharides in ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1073716
www.pubmedcentral.nih.gov
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Present status of amniocentesis in intrauterine diagnosis of genetic ...
... Sachs disease (deficient hexosaminidase A), mucopolysaccharidosis (quantitative ... Adrenogenital syndrome has been detected by urinary estriol. Mesh Terms: ...
http://www.ncbi.nlm.nih.gov/pubmed/5114231
www.ncbi.nlm.nih.gov
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Biofilm - Wikipedia, the free encyclopedia
... include common problems such as urinary tract infections, catheter infections, ... Biofilm Cells by an Endogenous ß-Hexosaminidase Activity". August 2003. ...
http://en.wikipedia.org/wiki/Biofilm
en.wikipedia.org
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Lysosomal enzymuria in protein energy malnutrition.
We compared the urinary excretion of the following five lysosomal enzymes in 31 ... were seen with beta-hexosaminidase (16-fold) and beta-glucuronidase ...
http://www.ncbi.nlm.nih.gov/pubmed/9481433
www.ncbi.nlm.nih.gov
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Glucuronate-2-sulphatase activity in cultured human skin fibroblast ...
... resolution electrophoresis of urinary glycosaminoglycans: an improved screening ... Variant of GM2-gangliosidosis with hexosaminidase A having a severely changed ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1151618
www.pubmedcentral.nih.gov
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Coordinacy of lysosomal enzyme excretion in human urine.
... alpha-galactosidase, and beta-hexosaminidase using fluorometric substrates. ... Begum A. Urinary excretion of beta-glucuronidase in protein-calorie malnutrition. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=372590
www.pubmedcentral.nih.gov
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Laboratory diagnosis of lysosomal storage diseases
... fucosidosis, a -mannosidosis and glycogen storage disease type II. Urinary ... and immunological characterisation of hexosaminidase A from variant AB of ...
http://www.ncbi.nlm.nih.gov/books/bv.fcgi?indexed=google&rid=fabry.chapter.556
www.ncbi.nlm.nih.gov
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Historical Reference Ranges - All
Cyclic Amp Urinary Excretion. Cyclic AMP, Plasma. Cyclic AMP, Urine. Cyclosporine ... Hexosaminidase, A & Total, Fibroblasts. Hexosaminidase, A & Total, Serum ...
http://cclnprod.cc.nih.gov/dlm/testguide.nsf/HRRAll?OpenForm&Count=2000
cclnprod.cc.nih.gov
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2008 MeSH Tree Structures. D08 - Enzymes and Coenzymes
Hexosaminidase A [D08.811.277.450.483.180.750] ... beta-Hexosaminidase beta Chain [D08.811.277. ... Urinary Plasminogen Activator [D08.811.277.656.300.760.910] ...
http://www.nlm.nih.gov/mesh/trees2008/D08.html
www.nlm.nih.gov
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Amyotrophic Lateral Sclerosis Overview -- GeneReviews -- NCBI Bookshelf
... urinary bladder disturbance, mild diminution of lower extremity vibration ... and adult-onset variants of hexosaminidase A deficiency are slowly progressive ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=als-overview
www.ncbi.nlm.nih.gov
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N-acetyl-beta-d-glucosaminidase in marmoset kidney, serum and urine.
Conversion of human hexosaminidase A to hexosaminidase "B" by crude Vibrio ... Urinary enzyme excretion during renal papillary necrosis induced in rats with ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1186147
www.pubmedcentral.nih.gov
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Krabbe Disease
of the ARSA gene, urinary excretion of sulfatides, and/or finding of ... hexosaminidase A deficiency have later onset, slower progression, and more variable ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
www.ncbi.nlm.nih.gov
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Pseudohypophosphatasia: aberrant localization and substrate specificity ...
... M. Tay-Sachs disease with hexosaminidase A: characterization of the defective ... of a Dutch kindred and evidence that urinary excretion of inorganic ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1683693
www.pubmedcentral.nih.gov
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Genetic Evaluation: Prenatal Genetic Counseling and Evaluation: Merck ...
Urinary retention. Vaginal bleeding. Vaginal bleeding during ... CVS or amniocentesis for enzymatic assays or molecular analysis to check for hexosaminidase A ...
http://www.merck.com/mmpe/sec18/ch257/ch257b.html
www.merck.com
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Treatment of a lysosomal storage disease, mucopolysaccharidosis VII ...
... tissue sections and urinary glycosaminoglycan content was ... secondary lysosomal enzymes beta-hexosaminidase and alpha-galactosidase were also reduced. ...
http://www.ncbi.nlm.nih.gov/pubmed/11044913?dopt=Citation
www.ncbi.nlm.nih.gov
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Hunter disease (mucopolysaccharidosis type II) in a karyotypically ...
A female child of healthy, unrelated parents presented at 12 months of age with ... Urinary sulfatide excretion was also within normal limits. ...
http://www.ncbi.nlm.nih.gov/pubmed/2112988
www.ncbi.nlm.nih.gov
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Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new ...
A method for the rapid detection of urinary glycopeptides in alpha ... of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1050630
www.pubmedcentral.nih.gov
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Characteristics of the beta-galactosidase-carboxypeptidase complex in ...
... distinguished by genetic complementation and urinary oligosaccharides. Am J Hum Genet. ... Proteolytic processing intermediates of hexosaminidase A. J Biol Chem. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1132871
www.pubmedcentral.nih.gov
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Mucolipidosis II -- GeneReviews -- NCBI Bookshelf
( 2) The elevation of urinary OSs is a nonspecific finding that serves as a ... A positive AMPS urinary test rules out ML II. ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ml2
www.ncbi.nlm.nih.gov
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Effect of diet on the fatty acid composition of the major phospholipids ...
... heterozygotes and homozygotes by serum hexosaminidase assay. N Engl J Med. ... Direct gas chromatographic assay of urinary medium-chain fatty acylcarnitines by ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1511055
www.pubmedcentral.nih.gov
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Lysosomal Storage Disorders: Inherited Disorders of Metabolism: Merck ...
Urinary retention. Vaginal bleeding. Vaginal bleeding during early pregnancy ... Tay-Sachs disease: Deficiency of hexosaminidase A results in accumulation of GM2 ...
http://www.merck.com/mmpe/sec19/ch296/ch296f.html
www.merck.com
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Mucolipidosis III Alpha/Beta -- GeneReviews -- NCBI Bookshelf
Urinary excretion of oligosaccharides (OSs), a nonspecific finding, can be ... Excessive urinary excretion of OSs is a nonspecific finding that orients the ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ml3a
www.ncbi.nlm.nih.gov
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Endocytosis provides a major alternative pathway for lysosomal ...
Third, urinary cathepsin B contains no detectable M6P, arguing against a primary ... also known as ?-hexosaminidase (130 kDa), is routinely used as a ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1838438
www.pubmedcentral.nih.gov
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Amyotrophic Lateral Sclerosis Overview
urinary bladder disturbance, mild diminution of lower extremity ... The juvenile, chronic, and adult-onset variants of hexosaminidase A deficiency are ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
www.ncbi.nlm.nih.gov
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Radiation Safety and Future Innovative Diagnostic Modalities
Minimal radiation exposure is now a permanent objective. ... B; Wieslander, J. Urinary excretion of beta-hexosaminidase in patients with ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=2441909
www.pubmedcentral.nih.gov
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Friedreich Ataxia -- GeneReviews -- NCBI Bookshelf
Bladder symptoms including urinary frequency and urgency were reported by 41% of ... Late-onset hexosaminidase A deficiency (ataxia, upper and lower motor neuron ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=friedreich
www.ncbi.nlm.nih.gov
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Renal and immunological effects of occupational exposure to inorganic ...
Assessment of urinary retinol-binding protein as an index ... B, Isaksson A, Sjöblad S. Plasma and urinary beta-hexosaminidase in juvenile diabetes mellitus. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1012120
www.pubmedcentral.nih.gov
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Motor Neuron Disorders: Peripheral Nervous System and Motor Unit ...
... movements, sexual function, and urinary and anal sphincters are usually ... hexosaminidase A) should not be done unless patients are interested in genetic ...
http://www.merck.com/mmpe/print/sec16/ch223/ch223e.html
www.merck.com
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nciarray.nci.nih.gov/gal_files/Mm-FCRF-CGEN1ext-v1.gal
... urinary bladd" 1 7 16 CGEN_MOUSE_EXT_3109315_1 "RIKEN cDNA 5430416B10 gene" 1 7 ... A ligase, l" 2 3 25 CGEN_MOUSE_EXT_3112995_1 " Mus musculus adult male urinary ...
http://nciarray.nci.nih.gov/gal_files/Mm-FCRF-CGEN1ext-v1.gal
nciarray.nci.nih.gov
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