cysteine and CBS Deficiency

cysteine has been researched along with CBS Deficiency in 42 studies

Research

Studies (42)

Timeframe	Studies, this research(%)	All Research%
pre-1990	23 (54.76)	18.7374
1990's	6 (14.29)	18.2507
2000's	5 (11.90)	29.6817
2010's	7 (16.67)	24.3611
2020's	1 (2.38)	2.80

Authors

Authors	Studies
Kožich, V; Stabler, S	1
Bublil, EM; Carrillo, RS; Kraus, JP; Majtan, T; Park, I	1
Bertini, E; Boenzi, S; Di Giovamberardino, G; Dionisi-Vici, C; Martinelli, D; Pastore, A; Petrillo, S; Piemonte, F; Tozzi, G	1
Ikeda, R; Kawakami, S; Kuroda, N; Kuroki, M; Minami, Y; Nakashima, K; Sekitani, Y; Takamura, N; Wada, M	1
Abman, SH; Allen, RH; Jiang, H; Maclean, KN; Stabler, SP	1
Arnal, C; Barranquero, C; Bregante, MA; García-Gimeno, MA; Gascón, S; Godino, J; Guillén, N; Guzmán, MA; Hernandez, E; Lou-Bonafonte, JM; Navarro, MA; Nuño-Ayala, M; Osada, J; Royo-Cañas, M; Sarría, AJ	1
Akahoshi, N; Ishii, I; Izumi, T; Nakano, S; Suematsu, M; Yamada, H	1
D'Almeida, V; Poloni, S; Schwartz, IV; Schweigert Perry, ID	1
Briddon, A; Hargreaves, IP; Lee, PJ	1
Bar-Or, D; Bar-Or, R; Craun, M; Curtis, CG; Kraus, JP; Maclean, KN; Rael, LT; Sullivan, A; Thomas, GW	1
Briddon, A; Lee, PJ	1
Blom, HJ; Heil, SG; Hogeveen, M; Kluijtmans, LA; Morava, E; van de Berg, GB; van Dijken, PJ	1
Boers, GH; Drayer, JI; Kloppenborg, PW; Leermakers, AI; Smals, AG; Trijbels, FJ	1
Dudman, NP; Tyrrell, PA; Wilcken, B; Wilcken, DE	1
Benevenga, NJ; Smolin, LA	1
Fowler, B	1
Gaull, GE; Malloy, MH; Rassin, DK	1
Berry, SA; King, RA; Reish, O	1
Boers, GH; Janssen, MJ; Stehouwer, CD; van den Berg, M	1
Andersson, A; Hultberg, B; Lindgren, A	1
Aarsland, A; Mansoor, MA; Svardal, AM; Ueland, PM	1
Boddie, AM; Coates, RJ; Dembure, PP; Elsas, LJ; Pasquali, M; Steen, MT; Sullivan, KM	1
Rozen, R	1
Gaull, GE; Longhi, RC; Rassin, DK; Sternowsky, HJ; Sturman, JA	1
Akagi, H; Hamada, R; Kamitsuchibashi, H; Kitazono, M; Nakano, A; Osame, M; Yamamoto, K; Yoshida, Y	1
Dudman, NP; Wilcken, DE; Wiley, VC	1
Davidson, WD; Kopple, JD; Laidlaw, SA; Smolin, LA	1
Dudman, NP; Tyrrell, PA; Wilcken, DE	1
Pestaña, A; Sandoval, IV; Sols, A	1
Frimpter, GW	1
Chavez, Y; Cobo, A; Lisker, R; Zavala, C	1
Fowler, B; Komrower, GM; Robins, AJ; Sardharwalla, IB	1
Chatagner, F	1
Fowler, B; Sardharwalla, IB	1
Fresco, R; Wong, PW	1
Fowler, B; Robins, AJ; Sardharwalla, IB	1
Benson, PF; Hamerton, JL; Young, V	1
Brown, MS; Edwards, WA; Laster, L; Loeb, PM; Mudd, SH	1
Bradley, KH; Schneider, JA; Seegmiller, JE	1
Komrower, GM; Schwarz, V; Wong, PW	1
Copeland, W; Kelly, S	1

Reviews

5 review(s) available for cysteine and CBS Deficiency

Article	Year
Lessons Learned from Inherited Metabolic Disorders of Sulfur-Containing Amino Acids Metabolism. The Journal of nutrition, 2020, 10-01, Volume: 150, Issue:Suppl 1 Topics: Amino Acids, Sulfur; Animals; Brain Diseases; Cysteine; Glutathione; Homocysteine; Homocystinuria; Humans; Hydrogen Sulfide; Liver; Metabolic Diseases; Metabolism, Inborn Errors; Methionine; Methionine Adenosyltransferase; Methylation; S-Adenosylmethionine; Sulfites; Sulfur; Sulfur Compounds	2020
Hyperhomocysteinaemia: a role in the accelerated atherogenesis of chronic renal failure? The Netherlands journal of medicine, 1995, Volume: 46, Issue:5 Topics: Adult; Age Factors; Arteriosclerosis; Cystathionine beta-Synthase; Cysteine; Female; Folic Acid; Heterozygote; Homocysteine; Homocystinuria; Humans; Kidney Failure, Chronic; Male; Methionine; Methylation; Middle Aged; Renal Dialysis; Sex Factors	1995
Genetic modulation of homocysteinemia. Seminars in thrombosis and hemostasis, 2000, Volume: 26, Issue:3 Topics: Amino Acid Substitution; Cardiovascular Diseases; Cystathionine beta-Synthase; Cysteine; Folic Acid; Gene Frequency; Genetic Predisposition to Disease; Genetic Variation; Genotype; Homocysteine; Homocystinuria; Humans; Hyperhomocysteinemia; Methylation; Methylenetetrahydrofolate Reductase (NADPH2); Methyltransferases; Mutation, Missense; Oxidoreductases Acting on CH-NH Group Donors; Point Mutation; Polymorphism, Genetic; Sulfur; Tetrahydrofolates	2000
Aminoacidurias due to inherited disorders of metabolism (first of two parts). The New England journal of medicine, 1973, Oct-18, Volume: 289, Issue:16 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Child; Cystathionine; Cysteine; Cystine; Disulfides; Female; Homocystinuria; Humans; Infant, Newborn; Lactates; Male; Methionine; Oxidoreductases; Phenylalanine; Phenylketonurias; Pregnancy; Pyruvates; Sulfhydryl Compounds; Sulfites; Sulfur; Tyrosine	1973
[Biochemical aspects of some congenital anomalies of the metabolism of sulfur amino acids]. Exposes annuels de biochimie medicale, 1967, Volume: 28 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Cysteine; Cystinuria; Homocysteine; Homocystinuria; Humans; Hydro-Lyases; L-Serine Dehydratase; Methionine; Rats	1967

Other Studies

37 other study(ies) available for cysteine and CBS Deficiency

Article	Year
Engineering and Characterization of an Enzyme Replacement Therapy for Classical Homocystinuria. Biomacromolecules, 2017, Jun-12, Volume: 18, Issue:6 Topics: Amino Acid Sequence; Animals; Cross-Linking Reagents; Cystathionine beta-Synthase; Cysteine; Delayed-Action Preparations; Disease Models, Animal; Enzyme Replacement Therapy; Homocysteine; Homocystinuria; Humans; Maleimides; Mice; Polyethylene Glycols; Succinimides	2017
Glutathione metabolism in cobalamin deficiency type C (cblC). Journal of inherited metabolic disease, 2014, Volume: 37, Issue:1 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Carrier Proteins; Case-Control Studies; Child; Child, Preschool; Cysteine; Disease Progression; Female; Glutathione; Homocysteine; Homocystinuria; Humans; Infant; Lymphocytes; Male; Oxidation-Reduction; Oxidative Stress; Oxidoreductases; Oxygen; Reactive Oxygen Species; Vitamin B 12; Vitamin B 12 Deficiency	2014
Quantitation of sulfur-containing amino acids, homocysteine, methionine and cysteine in dried blood spot from newborn baby by HPLC-fluorescence detection. Biomedical chromatography : BMC, 2014, Volume: 28, Issue:6 Topics: Chromatography, High Pressure Liquid; Cysteine; Dried Blood Spot Testing; Female; Homocysteine; Homocystinuria; Humans; Infant, Newborn; Male; Methionine; Neonatal Screening	2014
Altered hepatic sulfur metabolism in cystathionine β-synthase-deficient homocystinuria: regulatory role of taurine on competing cysteine oxidation pathways. FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 2014, Volume: 28, Issue:9 Topics: Animals; Blotting, Western; Carboxy-Lyases; Cystathionine beta-Synthase; Cysteine; Cysteine Dioxygenase; Dietary Supplements; Female; Homocystinuria; Humans; Liver; Male; Methionine; Mice; Mice, Inbred C57BL; Mice, Knockout; Mice, Transgenic; Oxidation-Reduction; Real-Time Polymerase Chain Reaction; Reverse Transcriptase Polymerase Chain Reaction; RNA, Messenger; Sulfur; Taurine	2014
Cysteinemia, rather than homocysteinemia, is associated with plasma apolipoprotein A-I levels in hyperhomocysteinemia: lipid metabolism in cystathionine beta-synthase deficiency. Atherosclerosis, 2010, Volume: 212, Issue:1 Topics: Administration, Oral; Animals; Apolipoprotein A-I; Beverages; Biomarkers; Blood Glucose; Cholesterol, HDL; Cysteine; Disease Models, Animal; Glycine; Homocysteine; Homocystinuria; Hyperhomocysteinemia; Lipid Metabolism; Liver; Male; Mice; Mice, Knockout; RNA, Messenger; Spain; Triglycerides	2010
Cystathionine gamma-Lyase-deficient mice require dietary cysteine to protect against acute lethal myopathy and oxidative injury. The Journal of biological chemistry, 2010, Aug-20, Volume: 285, Issue:34 Topics: Animals; Cystathionine gamma-Lyase; Cysteine; Disease Models, Animal; Homocystinuria; Hyperhomocysteinemia; Mice; Mice, Knockout; Muscular Diseases; Oxidative Stress; Protective Agents	2010
Does phase angle correlate with hyperhomocysteinemia? A study of patients with classical homocystinuria. Clinical nutrition (Edinburgh, Scotland), 2013, Volume: 32, Issue:3 Topics: Adolescent; Adult; Cysteine; Female; Homocysteine; Homocystinuria; Humans; Hyperhomocysteinemia; Life Expectancy; Male; Methionine; Prognosis; Young Adult	2013
Homocysteine and cysteine - albumin binding in homocystinuria: assessment of cysteine status and implications for glutathione synthesis? Amino acids, 2002, Volume: 22, Issue:2 Topics: Adolescent; Adult; Albumins; Cystathionine beta-Synthase; Cysteine; Female; Glutathione; Homocysteine; Homocystinuria; Humans; Male; Middle Aged; Protein Binding	2002
Plasma albumin cysteinylation is regulated by cystathionine beta-synthase. Biochemical and biophysical research communications, 2004, Dec-24, Volume: 325, Issue:4 Topics: Animals; Biomarkers; Cystathionine beta-Synthase; Cysteine; Homocysteine; Homocystinuria; Humans; Male; Mice; Rats; Rats, Sprague-Dawley; Reperfusion Injury; Serum Albumin	2004
A rationale for cystine supplementation in severe homocystinuria. Journal of inherited metabolic disease, 2007, Volume: 30, Issue:1 Topics: Adult; Aged; Albumins; Algorithms; Cysteine; Dietary Supplements; Homocystinuria; Humans; Middle Aged; Oxidation-Reduction; Risk Factors; Sulfhydryl Compounds; Treatment Outcome	2007
Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type). Journal of inherited metabolic disease, 2007, Volume: 30, Issue:5 Topics: Adolescent; Carnitine; Carrier Proteins; Child; Cysteine; Diagnosis, Differential; DNA Mutational Analysis; Exons; Female; Folic Acid; Genetic Testing; Heterozygote; Homocysteine; Homocystinuria; Humans; Male; Marfan Syndrome; Metabolism, Inborn Errors; Methylmalonic Acid; Mutation; Oxidoreductases; Pedigree; Phenotype; Treatment Outcome; Vitamin B 12; Vitamin B 6; Vitamins	2007
Pyridoxine treatment does not prevent homocystinemia after methionine loading in adult homocystinuria patients. Metabolism: clinical and experimental, 1983, Volume: 32, Issue:4 Topics: Adult; Cysteine; Cystine; Female; Homocysteine; Homocystine; Homocystinuria; Humans; Male; Methionine; Middle Aged; Pyridoxine	1983
Homocystinuria--the effects of betaine in the treatment of patients not responsive to pyridoxine. The New England journal of medicine, 1983, Aug-25, Volume: 309, Issue:8 Topics: Amino Acids; Amino Acids, Sulfur; Betaine; Cystathionine beta-Synthase; Cysteine; Female; Homocysteine; Homocystinuria; Humans; Male; Pyridoxine; Vitamin B 12	1983
Accumulation of homocyst(e)ine in vitamin B-6 deficiency: a model for the study of cystathionine beta-synthase deficiency. The Journal of nutrition, 1982, Volume: 112, Issue:7 Topics: Animals; Blood Proteins; Cystathionine beta-Synthase; Cysteine; Dietary Proteins; Disease Models, Animal; Homocysteine; Homocystine; Homocystinuria; Humans; Hydro-Lyases; Male; Protein Binding; Rats; Vitamin B 6 Deficiency	1982
Transsulphuration and methylation of homocysteine in control and mutant human fibroblasts. Biochimica et biophysica acta, 1982, Oct-11, Volume: 721, Issue:2 Topics: Cell Line; Cells, Cultured; Cystathionine beta-Synthase; Cysteine; Fibroblasts; Homocysteine; Homocystinuria; Humans; Methionine; Methylation; Mutation; Skin; Sulfur Radioisotopes	1982
Plasma cyst(e)ine in homocyst(e)inemia. The American journal of clinical nutrition, 1981, Volume: 34, Issue:12 Topics: Blood Proteins; Cysteine; Cystine; Female; Homocysteine; Homocystine; Homocystinuria; Humans; Male; Methionine; Protein Binding	1981
Spontaneous hair hyperpigmentation in response to vitamin intake in pregnancy--a clue for homocystinuria. American journal of obstetrics and gynecology, 1995, Volume: 173, Issue:5 Topics: Adult; Cystathionine beta-Synthase; Cysteine; Female; Fibroblasts; Hair Color; Hair Diseases; Homocysteine; Homocystinuria; Humans; Hyperpigmentation; Pregnancy; Skin; Vitamins	1995
Effect of thiol oxidation and thiol export from erythrocytes on determination of redox status of homocysteine and other thiols in plasma from healthy subjects and patients with cerebral infarction. Clinical chemistry, 1995, Volume: 41, Issue:3 Topics: Aged; Cerebral Infarction; Cysteine; Erythrocytes; Female; Homocysteine; Homocystinuria; Humans; Kinetics; Lipid Peroxidation; Male; Middle Aged; Oxidation-Reduction; Reference Values; Sulfhydryl Compounds; Temperature	1995
Redox status and protein binding of plasma homocysteine and other aminothiols in patients with homocystinuria. Metabolism: clinical and experimental, 1993, Volume: 42, Issue:11 Topics: Adolescent; Adult; Blood Proteins; Child, Preschool; Cysteine; Dipeptides; Female; Homocysteine; Homocystinuria; Humans; Male; Methionine; Oxidation-Reduction; Protein Binding; Regression Analysis	1993
Cystathionine-beta-synthase deficiency: detection of heterozygotes by the ratios of homocysteine to cysteine and folate. Metabolism: clinical and experimental, 1998, Volume: 47, Issue:2 Topics: Adult; Aged; Cystathionine beta-Synthase; Cysteine; Female; Folic Acid; Genetic Carrier Screening; Homocysteine; Homocystinuria; Humans; Male; Middle Aged; Vitamin B 12	1998
Homocysteine and cysteine loads in patients with homocystinuria due to cystathionine synthase deficiency: effects of vitamin B-6. Clinica chimica acta; international journal of clinical chemistry, 1977, Aug-15, Volume: 79, Issue:1 Topics: Cystathionine beta-Synthase; Cysteine; Cystine; Cystinuria; Disulfides; Female; Homocysteine; Homocystine; Homocystinuria; Humans; Hydro-Lyases; Male; Pyridoxine; Time Factors	1977
American Academy of Pediatrics. Committee on Nutrition: special diets for infants with inborn errors of amino acid metabolism. Pediatrics, 1976, Volume: 57, Issue:5 Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Cysteine; Histidine; Homocystinuria; Humans; Infant; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Methionine; Nutritional Requirements; Phenylalanine; Phenylketonurias; Risk; Tyrosine; Valine	1976
Patients with homocystinuria: high metal concentrations in hair, blood and urine. Acta neurologica Scandinavica, 1992, Volume: 86, Issue:5 Topics: Adult; Animals; Brain; Cysteine; Female; Hair; Homocysteine; Homocystinuria; Humans; Male; Metals; Methylmercury Compounds; Rats; Rats, Wistar; Reference Values; Tissue Distribution	1992
Free and protein-bound homocysteine and cysteine in cystathionine beta-synthase deficiency: interrelations during short- and long-term changes in plasma concentrations. Metabolism: clinical and experimental, 1989, Volume: 38, Issue:8 Topics: Adult; Betaine; Blood Proteins; Cystathionine beta-Synthase; Cysteine; Homocysteine; Homocystinuria; Humans; Hydro-Lyases; Kinetics; Male; Methionine; Protein Binding	1989
Sulfur amino acids in maintenance hemodialysis patients. Kidney international. Supplement, 1987, Volume: 22 Topics: Adult; Amino Acids, Sulfur; Cysteine; Female; Homocysteine; Homocystinuria; Humans; Male; Middle Aged; Renal Dialysis	1987
Homocystinuria due to cystathionine beta-synthase deficiency--the effects of betaine treatment in pyridoxine-responsive patients. Metabolism: clinical and experimental, 1985, Volume: 34, Issue:12 Topics: Adolescent; Adult; Betaine; Child; Cystathionine beta-Synthase; Cysteine; Drug Therapy, Combination; Female; Folic Acid; Homocysteine; Homocystinuria; Humans; Hydro-Lyases; Male; Methionine; Middle Aged; Pyridoxine; Serine	1985
Inhibition by homocysteine of serine dehydratase and other pyridoxal 5'-phosphate enzymes of the rat through cofactor blockage. Archives of biochemistry and biophysics, 1971, Volume: 146, Issue:2 Topics: Alanine Transaminase; Animals; Cysteine; Homocysteine; Homocystinuria; Humans; L-Serine Dehydratase; Liver; Male; Norepinephrine; Penicillamine; Pyridoxal Phosphate; Rats; Spectrophotometry; Stereoisomerism; Tyrosine Transaminase	1971
Frequency of homocystinuria amongst the blind. Clinical genetics, 1973, Volume: 4, Issue:2 Topics: Adolescent; Adult; Aged; Blindness; Child, Preschool; Chromatography, Paper; Cysteine; Cystinuria; False Positive Reactions; Female; Homocystine; Homocystinuria; Humans; Male; Mexico; Middle Aged	1973
Detection of heterozygotes for homocystinuria. Study of sulphur-containing amino acids in plasma and urine after L-methionine loading. Archives of disease in childhood, 1974, Volume: 49, Issue:7 Topics: Amino Acids, Sulfur; Chromatography, Ion Exchange; Cysteine; Cystine; Heterozygote; Homocysteine; Homocystine; Homocystinuria; Humans; Methionine; Time Factors	1974
Plasma levels of cystine in homocystinuria. Archives of disease in childhood, 1972, Volume: 47, Issue:251 Topics: Adult; Child; Cysteine; Cystine; Homocysteine; Homocystinuria; Humans	1972
Tissue cystathionine in mice treated with cysteine and homoserine. Pediatric research, 1972, Volume: 6, Issue:3 Topics: Amino Acids; Animals; Autoradiography; Brain; Chromatography, Ion Exchange; Cystathionine; Cysteine; Diet; Female; Homocystinuria; Homoserine; Humans; Hydroxybutyrates; Injections, Intraperitoneal; Liver; Mice; Mice, Inbred Strains; Sulfur Isotopes	1972
The detection of heterozygotes for homocystinuria by oral loading with L-methionine. The Biochemical journal, 1971, Volume: 122, Issue:1 Topics: Administration, Oral; Adult; Cysteine; Heterozygote; Homocysteine; Homocystine; Homocystinuria; Humans; Methionine	1971
Incorporation of methionine sulphur into cysteine in vitro by fibroblasts deficient in cystathionine synthetase. Archives of disease in childhood, 1969, Volume: 44, Issue:238 Topics: Cysteine; Fibroblasts; Homocystinuria; Humans; Hydro-Lyases; In Vitro Techniques; Lyases; Methionine	1969
Homocystinuria due to cystathionine synthase deficiency: the effect of pyridoxine. The Journal of clinical investigation, 1970, Volume: 49, Issue:9 Topics: Adult; Aldehydes; Autoanalysis; Carbon Isotopes; Chromatography; Cysteine; Diet; Diet Therapy; Enzyme Activation; Female; Fibroblasts; Homocystine; Homocystinuria; Humans; Hydro-Lyases; Keto Acids; L-Serine Dehydratase; Liver; Male; Methionine; Pyridoxal Phosphate; Pyridoxine; Serine; Sulfates; Trypsin	1970
Identification and measurement of cysteine-homocysteine mixed disulfide in plasma. The Journal of laboratory and clinical medicine, 1968, Volume: 71, Issue:1 Topics: Amino Acids; Chromatography, Ion Exchange; Cysteine; Cystine; Cystinosis; Homocysteine; Homocystine; Homocystinuria; Humans; Methionine; Sulfides	1968
The biosynthesis of cystathionine in patients with homocystinuria. Pediatric research, 1968, Volume: 2, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Brain; Child; Child, Preschool; Chromatography, Ion Exchange; Cysteine; Diet Therapy; Homocystinuria; Humans; Hydro-Lyases; Intellectual Disability; Liver; Rats; Serine; Sulfur Isotopes	1968
A hypothesis on the homocystinuric's response to pyridoxine. Metabolism: clinical and experimental, 1968, Volume: 17, Issue:9 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Chemistry, Clinical; Cysteine; Homocystinuria; Humans; Intellectual Disability; Male; Penicillamine; Pyridoxine	1968