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what is 'acid alpha-glucosidase in cultured fibroblasts'? Definition for acid alpha-glucosidase in cultured fibroblasts acid alpha-glucosidase in cultured fibroblasts is a medical procedure used for such diagnoses as: glycogen storage disease type 2. related diagnosis for 'acid alpha-glucosidase in cultured fibroblasts' 1 - 1 of 1 diagnosis glycogen storage disease type 2 storage disease due to accumulation of glycogen in various organs acid alpha-glucosidase in cultured fibroblasts and glycogen storage disease type 2 related procedure for 'acid alpha-glucosidase in cultured fibroblasts'/associated diagnoses 1 - 5 of 17 procedures Abdominal CAT Scan acid alpha-glucosidase in cultured fibroblasts and Abdominal CAT Scan Biopsy skin acid alpha-glucosidase in cultured fibroblasts and Biopsy skin ECHOcardiogram acid alpha-glucosidase in cultured fibroblasts and ECHOcardiogram EKG Electrocardiogram acid alpha-glucosidase in cultured fibroblasts and EKG Electromyogram (EMG) acid alpha-glucosidase in cultured fibroblasts and Electromyogram (EMG) Enzyme replacement acid alpha-glucosidase in cultured fibroblasts and Enzyme replacement Liver Function Tests elevated liver enzymes acid alpha-glucosidase in cultured fibroblasts and Liver Function Tests Lysosomal enzymes acid alpha-glucosidase in cultured fibroblasts and Lysosomal enzymes Molecular Genetic Studies acid alpha-glucosidase in cultured fibroblasts and Molecular Genetic Studies Muscle biopsy acid alpha-glucosidase in cultured fibroblasts and Muscle biopsy Serum Creatine Kinase (CK) acid alpha-glucosidase in cultured fibroblasts and Serum Creatine Kinase (CK) Urinary ketones acid alpha-glucosidase in cultured fibroblasts and Urinary ketones Urinary oligosaccharides acid alpha-glucosidase in cultured fibroblasts and Urinary oligosaccharides acid alpha-glucosidase in white blood cells acid alpha-glucosidase in cultured fibroblasts and acid alpha-glucosidase in white blood cells cultured skin fibroblasts for biochemical study acid alpha-glucosidase in cultured fibroblasts and cultured skin fibroblasts for biochemical study direct enzymatic assay in fibroblasts acid alpha-glucosidase in cultured fibroblasts and direct enzymatic assay in fibroblasts direct enzymatic assay in white blood cells acid alpha-glucosidase in cultured fibroblasts and direct enzymatic assay in white blood cells for more please login, login is free (click to login) related medication for 'acid alpha-glucosidase in cultured fibroblasts'/associated diagnoses 1 - 5 of 17 drugs alglucosidase alfa acid alpha-glucosidase in cultured fibroblasts and alglucosidase alfa The following are types of physicians relevant for 'acid alpha-glucosidase in cultured fibroblasts'. related types of physicians 'family practitioner, genetics specialist, internist, metabolic specialist' show local physicians postal code Find Local stars represent relevance to topic not rating more The results are computer generated suggestions to help you find a physician. MEDgle does not recommend any particular type of physician or claim to be complete or accurate in the providers and specialties suggested. web search results for 'acid alpha-glucosidase in cultured fibroblasts'? Results 1 - 50 - acid alpha-glucosidase in cultured fibroblasts Intravenous administration of phosphorylated acid alpha-glucosidase ... ... in cultured fibroblasts from glycogenosis type II patients after uptake ... and bovine acid alpha-glucosidase in cultured fibroblasts and skeletal muscle ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=296338   www.pubmedcentral.nih.gov - summary eMedicine - Glycogen-Storage Disease Type II : Article by Jennifer Ibrahim ... of acid alpha-glucosidase activity in cultured skin fibroblasts or ... Skin biopsy findings reveal acid alpha-glucosidase activity in cultured fibroblasts. ... http://www.emedicine.com/ped/TOPIC1866.HTM   www.emedicine.com - summary Glycogen Storage Disease Type II (Pompe Disease) -- GeneReviews -- NCBI ... ... of acid alpha-glucosidase (GAA) enzyme activity in cultured skin fibroblasts or ... of acid alpha-glucosidase enzyme activity in skin fibroblasts, muscle, or ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=gsd2   www.ncbi.nlm.nih.gov - summary Genetics of type II glycogenosis: Assignment of the human gene for acid ... ... diploid fibroblasts for the expression of human acid ?-glucosidase (EC 3.2.1.20) ... G, Harris H, Hirschhorn R. Acid alpha-glucosidase: a new polymorphism in man ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?&artid=411610   www.pubmedcentral.nih.gov - summary eMedicine - Lysosomal Storage Disease : Article by Noah S Scheinfeld ... the gene encoding for acid alpha-glucosidase has been localized to ... form of acid glucosidase in muscle biopsy samples and cultured fibroblasts. ... http://www.emedicine.com/neuro/topic668.htm   www.emedicine.com - summary 2 selected items - PubMed Results ... 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/18211760,18425781?dopt=Citation   www.ncbi.nlm.nih.gov - summary Expression and routeing of human lysosomal alpha-glucosidase in ... ... localization of acid alpha-glucosidase in mutant fibroblasts. ... acid alpha-glucosidase corrects lysosomal glycogen storage in cultured skeletal muscle. ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1149726   www.pubmedcentral.nih.gov - summary eMedicine - Acid Maltase Deficiency Myopathy : Article by Michael Weinik ... determining the total acid alpha-glucosidase in plasma or ... reduction in the levels of alpha-acid maltase in muscle tissue or cultured skin fibroblasts. ... http://www.emedicine.com/pmr/topic2.htm   www.emedicine.com - summary E0000048|AA|acronym|E0000204|Alcoholics Anonymous| E0000048|AA ... ... associated Kaposi's sarcoma| E0000084|ALA|acronym|E0008558|aminolevulinic acid ... alpha subunit glycoprotein hormone| E0000116|ASO|acronym|E0010515 ... http://lexsrv3.nlm.nih.gov/SPECIALIST/Projects/lexicon/2003/...   lexsrv3.nlm.nih.gov - summary Biochemical, immunological, and cell genetic studies in glycogenosis ... Glycogen levels in muscle biopsies and in cultured fibroblasts from patients were determined. ... properties of acid alpha-glucosidase in fibroblasts from the adult ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1685555   www.pubmedcentral.nih.gov - summary [Clinical and molecular genetic study on two patie...[Zhonghua Er Ke Za ... ... 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 - summary Characterization of the molecular defect in infantile and adult acid ... ... defect in infantile and adult acid alpha-glucosidase deficiency fibroblasts. ... Adult acid maltase deficiency. Abnormalities in fibroblasts cultured from ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=371892   www.pubmedcentral.nih.gov - summary eMedicine - Metabolic Myopathies : Article by Bashar Katirji ... is deficient in muscle, liver, heart, leukocytes, and cultured fibroblasts. ... Recently, intravenous recombinant acid alpha-glucosidase (rhGAA) was used in a ... http://www.emedicine.com/neuro/topic672.htm   www.emedicine.com - summary High-level production of recombinant human lysosomal acid alpha ... ... fibroblasts from Pompe patients, restoring normal levels of acid alpha ... and bovine acid alpha-glucosidase in cultured fibroblasts and skeletal muscle ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=40179   www.pubmedcentral.nih.gov - summary Clinical diversity in glycogenosis type II. Biosynthesis and in situ ... ... and in situ localization of acid alpha-glucosidase in mutant ... nature of acid alpha-glucosidase deficiency in cultured fibroblasts from 30 patients. ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=424503   www.pubmedcentral.nih.gov - summary ChemIDPlus/HSDB 63-25-2 Toxicity - National Toxicology Program BEEN REPORTED IN CULTURED HUMAN EMBRYONIC FIBROBLASTS. ... In contrast with acetylsalicylic acid, which acetylates only one protein, ... http://ntp.niehs.nih.gov/index.cfm?objectid=E881C24F-BDB5-82F8-FB51983AF1B65FCD   ntp.niehs.nih.gov - summary eMedicine - Disorders of Carbohydrate Metabolism : Article by Pieter R Kark A defect of acid maltase or alpha-glucosidase causes Pompe disease, the ... This can be assayed in WBCs, cultured fibroblasts (including those from amniotic ... http://www.emedicine.com/neuro/topic679.htm   www.emedicine.com - summary Free Sialic Acid Storage Disorders -- GeneReviews -- NCBI Bookshelf Cultured fibroblasts from individuals with Salla disease and individuals with ... disease, beta-glucosidase deficiency, acid sphingomyelinase deficiency, acid ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=issd   www.ncbi.nlm.nih.gov - summary Disturbance of lysosomal glycogen metabolism by liposomal anti-alpha ... ... CB, Sica V. Further purification and characterization of the acid ?-glucosidase. ... in vivo of the lysosomal pathway of glycogen catabolism in cultured human ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1152015   www.pubmedcentral.nih.gov - summary alpha-Glucosidase and N-acetylglucosamine-6-sulphatase are the major ... Studies on the pathogenetic mechanism of I-cell disease in cultured fibroblasts. Pediatr Res. ... of lysosomal acid alpha-glucosidase during intracellular ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1218398   www.pubmedcentral.nih.gov - summary Free Sialic Acid Storage Disorders Cultured fibroblasts from individuals with Salla disease and individuals with ISSD ... glucosidase deficiency, acid sphingomyelinase deficiency, acid lipase ... http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...   www.ncbi.nlm.nih.gov - summary Regional assignment of the structural gene for human alpha-L-iduronidase. Maturation of alpha-L-iduronidase in cultured human fibroblasts. J Biol Chem. ... K. Genetic heterogeneity in acid alpha-glucosidase deficiency. Am J Hum ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=344787   www.pubmedcentral.nih.gov - summary Mutations of glucocerebrosidase: discrimination of neurologic and non ... ... Properties of beta-glucosidase in cultured skin fibroblasts from controls and ... antibodies against human acid alpha-glucosidase. Biochim Biophys Acta. ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=346953   www.pubmedcentral.nih.gov - summary Biosynthesis and maturation of peroxisomal beta-oxidation enzymes in ... ... demonstration of peroxisomes in cultured fibroblasts from patients with ... precursor and mature forms of human lysosomal alpha-glucosidase. Eur J Biochem. ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=386458   www.pubmedcentral.nih.gov - summary Human lysosomal acid phosphatase: cloning, expression and chromosomal ... ... acid alpha-glucosidase and detection of genetic heterogeneity for mRNA in three ... and processing of lysosomal acid phosphatase in cultured human cells. ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=457099   www.pubmedcentral.nih.gov - summary eMedicine - Lipid Storage Disorders : Article by Margaret McGovern ... of specific enzymatic activity in isolated leukocytes or cultured fibroblasts. ... Acid b-glucosidase cDNA has been cloned and mutant alleles have been identified ... http://www.emedicine.com/ped/topic1310.htm   www.emedicine.com - summary Gaucher Disease -- GeneReviews -- NCBI Bookshelf ... to exhibit these properties in studies of cultured fibroblasts in vitro, is ... GLUCOSIDASE, BETA, ACID; GBA. 608013. GAUCHER DISEASE, PERINATAL LETHAL ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=gaucher   www.ncbi.nlm.nih.gov - summary eMedicine - Glycogen-Storage Disease Type III : Article by David Tegay ... in liver, skeletal muscle, heart, erythrocytes, and cultured fibroblasts. ... by 2 different mutations in exon 3 at the amino acid codon 6. No known mechanism ... http://www.emedicine.com/ped/topic479.htm   www.emedicine.com - summary Gaucher Disease these properties in studies of cultured fibroblasts in vitro, is currently in ... GLUCOSIDASE, BETA, ACID; GBA. 608013. GAUCHER DISEASE, PERINATAL LETHAL ... http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...   www.ncbi.nlm.nih.gov - summary Characterization of iduronate sulphatase mutants affecting ... Human lysosomal alpha-glucosidase: functional characterization of ... A, -B and -C in cultured fibroblasts from patients with multiple sulphatase deficiency. ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1218661   www.pubmedcentral.nih.gov - summary Human acid beta-glucosidase: Northern blot and S1 nuclease analysis of ... ... residual enzyme in cultured fibroblasts from non-neuronopathic and neuronopathic ... Suzuki K. Human beta-hexosaminidase alpha chain: coding sequence and homology ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1684132   www.pubmedcentral.nih.gov - summary Genetic Basis for Correction of Very-Long-Chain Acyl?Coenzyme A ... ... of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease. ... defects of fatty acid oxidation in intact cultured fibroblasts. ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=2276345   www.pubmedcentral.nih.gov - summary Enzyme activities in endothelial cells and smooth muscle cells from ... In populations of cultured arterial endothelial and smooth muscle cells grown ... cytochrome c reductase, alpha-glucosidase, 5'-nucleotidase, alkaline ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=383641   www.pubmedcentral.nih.gov - summary Sodium-stimulated alpha-aminoisobutyric acid transport by membrane ... ... of transport of alpha-aminoisobutyric acid are shown to be ... demonstration of a deficiency of acid beta-glucosidase in cultured fibroblasts. Am J Hum Genet. ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=430416   www.pubmedcentral.nih.gov - summary Mucopolysaccharidosis type I subtypes. Presence of immunologically ... Maturation of alpha-L-iduronidase in cultured human fibroblasts. J Biol Chem. ... K. Genetic heterogeneity in acid alpha-glucosidase deficiency. Am J Hum ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=442479   www.pubmedcentral.nih.gov - summary Juvenile and adult metachromatic leukodystrophy: partial restoration of ... ... A polypeptides were examined in cultured fibroblasts from a patient with ... Biosynthesis of acid alpha-glucosidase in late-onset forms of glycogenosis type ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=534361   www.pubmedcentral.nih.gov - summary NIH Research Festival 2005 Protective Effect of Docosahexaenoic Acid in Rat Cerebellar Granular Cells. APO-2 ... A Role of Estrogen/ER Alpha Signaling in BRCA1-Associated Tissue Specific ... http://researchfestival.nih.gov/sessions/CategoryAPO.html   researchfestival.nih.gov - summary Direct multiplex assay of enzymes in dried blood spots by tandem mass ... ... 1,4-?-glucosidase in human fetal and adult tissues and cultured cells. ... Determination of acid alpha-glucosidase activity in blood spots as a diagnostic ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2488386   www.pubmedcentral.nih.gov - summary Human acid ceramidase: processing, glycosylation, ...[J Biol Chem. 2001 ... ... of sphingolipid activator protein (SAP )precursor in cultured human fibroblasts. ... precursor form of acid alpha-glucosidase corrects the enzyme ... http://www.ncbi.nlm.nih.gov/pubmed/11451951   www.ncbi.nlm.nih.gov - summary An isozyme of acid alpha-glucosidase with reduced catalytic activity ... Adult acid maltase deficiency. Abnormalities in fibroblasts cultured from patients. ... defect in infantile and adult acid alpha-glucosidase deficiency fibroblasts. ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1686008   www.pubmedcentral.nih.gov - summary Glycogen accumulation in cultured skin fibroblasts. ... R, Dorfman A. Acid mucopolysaccharides in cultured human fibroblasts. Lancet. ... HM, Grunfeld A. Lysosomal alpha-glucosidase in type II glycogenosis; activity ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1174342   www.pubmedcentral.nih.gov - summary Destabilization of the Retinoblastoma Tumor Suppressor by Human ... ... for G1 control in DNA-damaged mouse embryo fibroblasts ... P. Allosteric activation of acid alpha-glucosidase by the human papillomavirus E7 protein. ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=114400   www.pubmedcentral.nih.gov - summary Glucose persistence on high-mannose oligosaccharides selectively ... ... the prelysosomal compartment in cultured rat fibroblasts. Eur J Cell Biol. ... a Chinese hamster ovary mutant deficient in alpha-glucosidase I. J Biol Chem. ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1220778   www.pubmedcentral.nih.gov - summary Small-molecule therapeutics for the treatment of glycolipid lysosomal ... Sphingolipid metabolism in cultured fibroblasts: microscopic and biochemical ... alpha-glucosidase inhibitor (BAY m1099-miglitol) in insulin-treated type 2 ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1693180   www.pubmedcentral.nih.gov - 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?artid=25603   www.pubmedcentral.nih.gov - summary Assignment of the structural gene for the third component of human ... ... (C3) is synthesized and secreted by cultured human primary fibroblasts. ... Assignment of the human acid alpha-glucosidase gene (alphaGLU) to chromosome 17 ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=346818   www.pubmedcentral.nih.gov - summary The Papillomavirus E7 Oncoprotein Is Ubiquitinated by UbcH7 and Cullin ... ... mouse embryo fibroblasts (MEFs) were cultured as described ... Allosteric activation of acid alpha-glucosidase by the human papillomavirus E7 protein. ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=400333   www.pubmedcentral.nih.gov - summary Human Papillomavirus Type 16 E7 Oncoprotein Binds and Inactivates ... PC-3 cells were cultured in RPMI or FK-12 medium, both ... P. Allosteric activation of acid alpha-glucosidase by the human papillomavirus E7 protein. ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pub...   www.pubmedcentral.nih.gov - summary Retinal expression, regulation, and functional bioactivity of ... ... factor alpha stimulates prostacyclin production by cultured human vascular ... hemodynamics in diabetic rats by acarbose, an alpha-glucosidase inhibitor. ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pub...   www.pubmedcentral.nih.gov - summary Examination of the pRb-Dependent and pRb-Independent Functions of E7 In ... ... accumulation of p21 in E7-expressing fibroblasts occurs with only ... Allosteric activation of acid alpha-glucosidase by the human papillomavirus E7 protein. ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pub...   www.pubmedcentral.nih.gov - summary show more 1  2

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