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what is 'cystathionine synthase in cultured fibroblasts'? Definition for cystathionine synthase in cultured fibroblasts cystathionine synthase in cultured fibroblasts is a medical procedure used for such diagnoses as: homocystinuria. related diagnosis for 'cystathionine synthase in cultured fibroblasts' 1 - 1 of 1 diagnosis homocystinuria multisystem metabolic disease due to abnormal methionine metabolism cystathionine synthase in cultured fibroblasts and homocystinuria related procedure for 'cystathionine synthase in cultured fibroblasts'/associated diagnoses 1 - 5 of 50 procedures 24 hour urinary cystine cystathionine synthase in cultured fibroblasts and 24 hour urinary cystine Activated Protein C Resistance test clotting assay to define a cause of increased clotting cystathionine synthase in cultured fibroblasts and Activated Protein C Resistance test Activated partial thromboplastin time cystathionine synthase in cultured fibroblasts and Activated partial thromboplastin time Antiphospholipid antibodies anribodies seen in inappropriate clot formation cystathionine synthase in cultured fibroblasts and Antiphospholipid antibodies Antithrombin III clot thinning factor in body cystathionine synthase in cultured fibroblasts and Antithrombin III Biopsy liver cystathionine synthase in cultured fibroblasts and Biopsy liver Blood, Platelet Count Platelet Count cystathionine synthase in cultured fibroblasts and Blood, Platelet Count Brain MRI cystathionine synthase in cultured fibroblasts and Brain MRI CT scan cystathionine synthase in cultured fibroblasts and CT scan CT venography cystathionine synthase in cultured fibroblasts and CT venography Complete Blood Count cystathionine synthase in cultured fibroblasts and Complete Blood Count Comprehensive eye exam cystathionine synthase in cultured fibroblasts and Comprehensive eye exam Compression hosiery cystathionine synthase in cultured fibroblasts and Compression hosiery Contrast Venography cystathionine synthase in cultured fibroblasts and Contrast Venography D dimers cystathionine synthase in cultured fibroblasts and D dimers Duplex sonography cystathionine synthase in cultured fibroblasts and Duplex sonography EEG - Electroencephalogram cystathionine synthase in cultured fibroblasts and EEG - Electroencephalogram Factor V Leiden mutation cystathionine synthase in cultured fibroblasts and Factor V Leiden mutation HPLC (High performance liquid chromatography) with fluorescence detection cystathionine synthase in cultured fibroblasts and HPLC (High performance liquid chromatography) with fluorescence detection Heparin-induced antibody testing cystathionine synthase in cultured fibroblasts and Heparin-induced antibody testing for more please login, login is free (click to login) related medication for 'cystathionine synthase in cultured fibroblasts'/associated diagnoses 1 - 5 of 50 drugs folic acid cystathionine synthase in cultured fibroblasts and folic acid The following are types of physicians relevant for 'cystathionine synthase in cultured fibroblasts'. related types of physicians 'adolescent medicine, family practitioner, genetics specialist, hematologist, internist, metabolic specialist, neurologist, rheumatologist' 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 'cystathionine synthase in cultured fibroblasts'? Results 1 - 50 - cystathionine synthase in cultured fibroblasts Cystathionine Synthase Activity in Human Lymphocytes: Induction by ... ... described for cystathionine synthase of normal liver and cultured fibroblasts. ... Cystathionine synthase in tissue culture derived from human skin: enzyme ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=302215   www.pubmedcentral.nih.gov - summary Cystathionine beta synthase: gene dosage effect in trisomy 21. ... activity of cystathionine beta synthase has been studied in fibroblasts of nine ... Cells, Cultured. Chromosome Banding. Chromosomes, Human, 21-22 and Y ... http://www.ncbi.nlm.nih.gov/pubmed/3157380?ordinalpos=2&itoo...   www.ncbi.nlm.nih.gov - summary A yeast system for expression of human cystathionine beta-synthase ... ... DISTINCT CLASSES OF CYSTATHIONINE ?-SYNTHASE MUTANTS IN CULTURED FIBROBLASTS. J Clin Invest. ... cystathionine beta-synthase cDNA: sequence, alternative ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=44253   www.pubmedcentral.nih.gov - summary Age dependency of cystathionine beta-synthase activity in human ... ... of cystathionine beta-synthase activity in human fibroblasts in homocyst ... CBS was studied in cultured human skin fibroblasts from 99 human subjects ... http://www.ncbi.nlm.nih.gov/pubmed/1385957?ordinalpos=2&itoo...   www.ncbi.nlm.nih.gov - summary Defective cystathionine beta-synthase regulation by ... ... mutation, CBS activities in extracts of cultured fibroblasts of this patient ... cystathionine beta-synthase cDNA: sequence, alternative splicing and ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=8755636   www.pubmedcentral.nih.gov - summary Human cystathionine beta-synthase cDNA: sequence, alternative splicing ... ... synthase cDNA: sequence, alternative splicing and expression in cultured cells. ... retained in the 3'-untranslated region of most of the fibroblast and ... http://www.ncbi.nlm.nih.gov/pubmed/7903580   www.ncbi.nlm.nih.gov - summary Homocystinuria: biogenesis of cystathionine beta-synthase subunits in ... ... cystathionine beta-synthase subunits in cultured ... DISTINCT CLASSES OF CYSTATHIONINE ?-SYNTHASE MUTANTS IN CULTURED FIBROBLASTS. J Clin Invest. ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1684440   www.pubmedcentral.nih.gov - summary Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency ... CBS enzyme activity is measured in cultured skin fibroblasts. ... distinct classes of cystathionine beta-synthase mutants in cultured fibroblasts. J Clin Invest. ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=homocystinuria   www.ncbi.nlm.nih.gov - summary The natural history of homocystinuria due to cystathionine ?-synthase ... ... cultured fibroblasts from patients with homocystinuria due to cystathionine beta ... of cystathionine beta-synthase subunits in cultured fibroblasts and in ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=3872065   www.pubmedcentral.nih.gov - summary Defective cystathionine beta-synthase regulation by ... Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a ... mutation, CBS activities in extracts of cultured fibroblasts of this patient ... http://www.ncbi.nlm.nih.gov/pubmed/8755636   www.ncbi.nlm.nih.gov - summary High prevalence of a mutation in the cystathionine beta-synthase gene. ... of methionine loading and enzyme determination in cultured fibroblasts. Hum Genet. ... Molecular basis of cystathionine beta-synthase deficiency in pyridoxine ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=8940271   www.pubmedcentral.nih.gov - summary Screening for mutations by expressing patient cDNA segments in E. coli ... Deficiency of cystathionine beta-synthase (CBS) causes the most common form of ... mutant cDNA within 7-10 days of harvesting cultured fibroblasts. Mesh Terms: ... http://www.ncbi.nlm.nih.gov/pubmed/1301198   www.ncbi.nlm.nih.gov - summary Homocystinuria EVIDENCE FOR THREE DISTINCT CLASSES OF CYSTATHIONINE ?-SYNTHASE MUTANTS IN CULTURED FIBROBLASTS ... Mutant Cystathionine ?-Synthase from Cultured Fibroblasts. ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=372577   www.pubmedcentral.nih.gov - summary On the Mechanism of Pyridoxine Responsive Homocystinuria. II ... II. Properties of Normal and Mutant Cystathionine ?-Synthase from Cultured Fibroblasts ... In crude cell sonicates, cystathionine synthase activity detected in ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=433989   www.pubmedcentral.nih.gov - summary Identical genotypes in siblings with different homocystinuric ... ... the molecular basis of cystathionine beta-synthase (CBS) deficiency in three ... in which the mutations lead to the absence of the enzyme in cultured fibroblasts. ... http://www.ncbi.nlm.nih.gov/pubmed/7981678   www.ncbi.nlm.nih.gov - summary E0000048|AA|acronym|E0006859|achievement age| E0000048|AA|acronym ... ... milk allergy| E0001312|CMA|acronym|E0425069|cultured macrophage| E0001312|CMA ... EF|acronym|E0438976|embryo fibroblast| E0002262|EF|acronym|E0438977|emergency ... http://lexsrv3.nlm.nih.gov/SPECIALIST/Projects/lexicon/2006/...   lexsrv3.nlm.nih.gov - summary Stroke in young patients with hyperhomocysteinemia due to cystathionine ... Cells, Cultured. Cerebral Infarction/blood. Cerebral ... Cystathionine beta-Synthase/metabolism. DNA Mutational Analysis. Female. Fibroblasts/cytology ... http://www.be-md.ncbi.nlm.nih.gov/pubmed/12552044   www.be-md.ncbi.nlm.nih.gov - summary Molecular and biochemical approaches in the identification of ... ... carriers of mutations in the cystathionine beta-synthase (CBS) gene. ... In addition, we determined CBS activity in cultured skin fibroblasts and tested ... http://www.ncbi.nlm.nih.gov/pubmed/8724113?ordinalpos=3&itoo...   www.ncbi.nlm.nih.gov - summary Tissue Culture Techniques as an Aid to Prenatal Diagnosis and Genetic ... Cystathionine synthase activity was studied in skin fibroblasts from a mother ... in the amnion fibroblasts was similar to that found in the cell line cultured ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1012999   www.pubmedcentral.nih.gov - summary Low serum selenium concentration and glutathione peroxidase activity in ... Decreased serum selenium in alcoholics as related to liver ... Biosynthesis of human cystathionine beta-synthase in cultured fibroblasts. J Biol Chem. ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1245162   www.pubmedcentral.nih.gov - summary Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of ... Cells, Cultured. Cystathionine beta-Synthase/analysis. Female. Fibroblasts/enzymology ... Cystathionine beta-Synthase. PMID: 7825569 [PubMed - indexed for MEDLINE] ... http://www.ncbi.nlm.nih.gov/pubmed/7825569?ordinalpos=2&itoo...   www.ncbi.nlm.nih.gov - summary Homocystinuria. Evidence for three distinct classes of cystathionine ... ... distinct classes of cystathionine beta-synthase mutants in cultured fibroblasts. ... Cystathionine beta-synthase activity was undetectable in one line from a ... http://www.be-md.ncbi.nlm.nih.gov/pubmed/641146   www.be-md.ncbi.nlm.nih.gov - summary Ornithine ketoacid transaminase deficiency in gyrate atrophy of the ... Cultured skin fibroblasts from five affected patients showed a virtual absence ... of Normal and Mutant Cystathionine ?-Synthase from Cultured Fibroblasts. ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1685558   www.pubmedcentral.nih.gov - summary Induction of acute translational response genes by homocysteine ... Fibroblasts from cystathionine beta-synthase -/- individuals also showed up to ... Cells, Cultured. Cycloheximide/pharmacology. Cystathionine beta-Synthase/deficiency ... http://www.ncbi.nlm.nih.gov/pubmed/9677419   www.ncbi.nlm.nih.gov - summary Immunochemical studies of fibroblasts from patients with methylmalonyl ... ... dehydrogenase in cultured fibroblasts from patients with medium chain acyl-CoA ... of cystathionine beta-synthase subunits in cultured fibroblasts and in ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=2881300   www.pubmedcentral.nih.gov - summary cDNA Library 6554 [Homo sapiens] ( isolated from cultured epidermal cells grown from human foreskin). 3. 54545 ... (clone pGHSCBS) cystathionine beta-synthase subunit (CBS). 2. 36364. Hs.515070 ... http://www.ncbi.nlm.nih.gov/UniGene/library.cgi?ORG=Hs&LID=6554   www.ncbi.nlm.nih.gov - summary Evidence that cycloleucine affects the high-affinity systems of amino ... ... studies on cystathionine beta-synthase, S-adenosylmethionine synthetase and ... The transport of neutral amino acids in cultured human fibroblasts. J Biol Chem. ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1144428   www.pubmedcentral.nih.gov - summary Co-ordinate variations in methylmalonyl-CoA mutase and methionine ... ... exposure of cells cultured in media containing various ... and remethylation in fibroblasts from cystathionine synthase-deficient, cb1G, and cb1E patients. ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1220339   www.pubmedcentral.nih.gov - summary Marfan Syndrome -- GeneReviews -- NCBI Bookshelf ... disorder caused by cystathionine-synthase deficiency resulting from mutations in the CBS gene. ... in the matrix deposited by cultured dermal fibroblasts. ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=marfan   www.ncbi.nlm.nih.gov - summary Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of ... ... enzyme determination in cultured fibroblasts. Hum Genet. ... DISTINCT CLASSES OF CYSTATHIONINE ?-SYNTHASE MUTANTS IN CULTURED FIBROBLASTS. J Clin Invest. ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1801334   www.pubmedcentral.nih.gov - summary Marfan Syndrome ... autosomal recessive disorder caused by cystathionine-synthase ... microfibrils in explanted tissues and in the matrix deposited by cultured dermal fibroblasts. ... http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...   www.ncbi.nlm.nih.gov - summary Molecular basis of ornithine aminotransferase deficiency in B-6 ... ... 2-oxoacid aminotransferase activity in cultured fibroblasts from a patient with ... of Normal and Mutant Cystathionine ?-Synthase from Cultured Fibroblasts. ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=280301   www.pubmedcentral.nih.gov - summary Eastern Mediterranean Health Journal, Vol. 5 No. 6, Classic ... ... only measured cystathionine b-synthase activity in fibroblasts (revealing its ... et al. L-homocysteate is a potent neurotoxin on cultured cortical neurons. ... http://www.emro.who.int/Publications/EMHJ/0506/17.htm   www.emro.who.int - summary Amino Acid and Organic Acid Metabolism Disorders: Inherited Disorders ... ... by measuring propionyl CoA carboxylase activity in WBCs or cultured fibroblasts. ... cystathionine ?-synthase, which catalyzes cystathionine formation from ... http://www.merck.com/mmpe/sec19/ch296/ch296c.html   www.merck.com - summary Abnormally high thromboxane biosynthesis in homozygous homocystinuria ... ... in subjects with different gene dosage for cystathionine ... Cystathionine synthase deficiency: heterozygote detection using cultured skin fibroblasts. ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=288283   www.pubmedcentral.nih.gov - summary Transsulfuration in an adult with hepatic methionine ... The patient's cultured fibroblasts and erythrocytes had normal MAT activity. ... Homocystinuria due to cystathionine synthase deficiency. ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=329581   www.pubmedcentral.nih.gov - summary Spectrum of CBS mutations in 16 homocystinuric patients from the ... Homocystinuria due to cystathionine beta-synthase (CBS) deficiency has been ... Enzyme activities in cultured fibroblasts from 10 of the patients were assayed, ... http://www.be-md.ncbi.nlm.nih.gov/pubmed/12815602   www.be-md.ncbi.nlm.nih.gov - summary Cystinosis. Intracellular cystine depletion by aminothiols in vitro and ... Measurement of intracellular amino acids in cultured skin fibroblasts. ... Homocystinuria due to cystathionine synthase deficiency. ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=333169   www.pubmedcentral.nih.gov - summary Sulfur Amino Acid Metabolism: Homocystinuria Pyridoxine sensitivity can be documented by enzyme assay in skin fibroblasts. ... this group from homocystinuria secondary to cystathionine b -synthase deficiency. ... http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=bnchm.section.3126   www.ncbi.nlm.nih.gov - summary Homocysteine-induced endoplasmic reticulum stress causes dysregulation ... ... HMG-CoA reductase, and FPP synthase in HepG2 cells cultured in the (more ... and vascular dysfunction in cystathionine ?-synthase deficient mice. ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pub...   www.pubmedcentral.nih.gov - summary Disorders of Intracellular Cobalamin Metabolism -- GeneReviews -- NCBI ... ... metabolism is discussed extensively in Cystathionine Beta Synthase Deficiency. ... complementation in heterokaryons of human fibroblasts defective in ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=cbl   www.ncbi.nlm.nih.gov - summary MELAS -- GeneReviews -- NCBI Bookshelf ... be detected in other tissues, such as cultured skin fibroblasts, hair follicles, ... caused by cystathionine beta-synthase deficiency [Meschia & Worrall ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=melas   www.ncbi.nlm.nih.gov - summary Post- and prenatal diagnostic methods for the homocystinurias. 2. Cystathionine-beta-synthase (CBS), methylenetetrahydrofolate reductase (MTHFR) ... methylmalonic aciduria supported by enzyme assays in cultured cells. ... http://www.be-md.ncbi.nlm.nih.gov/pubmed/9587033   www.be-md.ncbi.nlm.nih.gov - summary Modification of the structure and function of fibrillin-1 by ... ... patients have a defect in the cystathionine-beta-synthase, the key enzyme in the ... Cells, Cultured. Chymotrypsin/pharmacology. Circular Dichroism. Dose ... http://www.ncbi.nlm.nih.gov/pubmed/16096271   www.ncbi.nlm.nih.gov - summary Antenatal detection of genetic enzyme defects. Matalon R, Dorfman A. Acid mucopolysaccharides in cultured human fibroblasts. Lancet. ... Cystathionine synthase in tissue culture derived from human skin: ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1812050   www.pubmedcentral.nih.gov - summary Molecular analysis of argininosuccinate synthetase deficiency in human ... We have analyzed cultured skin fibroblasts derived from patients with ... Homocystinuria due to cystathionine synthase deficiency: enzymatic and ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=370354   www.pubmedcentral.nih.gov - summary Coding sequence of the precursor of the beta subunit of rat propionyl ... ... of propionyl-CoA carboxylase deficiency in cultured human fibroblasts. Am J Hum Genet. ... mapping of cystathionine beta-synthase and the beta subunit of ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=386864   www.pubmedcentral.nih.gov - summary The effect of a subnormal vitamin B-6 status on homocysteine metabolism. ... in heterozygosity for homocystinuria due to cystathionine beta-synthase deficiency. ... loading and enzyme determination in cultured fibroblasts. Hum Genet. ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=507414   www.pubmedcentral.nih.gov - summary Methionine Adenosyltransferase I/III Deficiency: Novel Mutationsand ... ... Cystathionine ?-synthase deficiency was ruled out by enzyme assays of cultured ... in fibroblasts from patient 7 and were 8.5 and 10.4 U/mg protein, respectively, ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pub...   www.pubmedcentral.nih.gov - summary MELAS such as cultured skin fibroblasts, hair follicles, urinary sediment, or, most reliably, ... Fabry disease, and homocystinuria caused by cystathionine ... http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...   www.ncbi.nlm.nih.gov - summary show more 1  2

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