cystathionine and CBS Deficiency

cystathionine has been researched along with CBS Deficiency in 42 studies

Research

Studies (42)

Timeframe	Studies, this research(%)	All Research%
pre-1990	31 (73.81)	18.7374
1990's	3 (7.14)	18.2507
2000's	1 (2.38)	29.6817
2010's	6 (14.29)	24.3611
2020's	1 (2.38)	2.80

Authors

Authors	Studies
Aghalarov, M; Aktuglu-Zeybek, C; Cansever, MS; Kıykım, E; Uygur, E; Zubarioglu, T	1
Huse, K; Olecka, M; Platzer, M	1
Akahoshi, N; Hishiki, T; Ishii, I; Ishizaki, Y; Kamata, S; Kasahara, T; Kubota, M; Matsuura, T; Nagahata, Y; Suematsu, M; Yamada, H; Yamazaki, C; Yoshida, Y	1
Bártl, J; Chrastina, P; Hodík, J; Kožich, V; Krijt, J; Pešková, K	1
Alcaide, P; Ješina, P; Kožich, V; Krijt, J; Merinero, B; Ruiz-Sala, P; Ugarte, M	1
Ješina, P; Kožich, V; Kraus, JP; Krijt, J; Majtán, T; Melenovská, P; Sokolová, J; Vozdek, R	1
Allen, RH; Austin, RC; Balasubramaniam, V; Evans, JR; Greiner, LS; Jiang, H; Lhotak, S; Maclean, KN; Markham, NE; Sood, SK; Stabler, SP	1
GERRITSEN, T; WAISMAN, HA	1
Dowton, SB; Fulton, AB; Levy, HL; Robb, RM	1
Følling, I; Guttormsen, AB; Kim, CE; Kruger, WD; Ose, L; Refsum, H; Ueland, PM	1
Frimpter, GW	2
Cotton, RC; Danks, DM; Goldsmith, D; Patrick, MG	1
Levy, HL; Madigan, PM; Mudd, SH; Uhlendorf, BW	1
Conerly, EB; Edwards, WA; Mudd, SH; Poole, JR	1
Haraguchi, H	1
Morino, Y; Tanase, S	1
al Awadi, SA; Bastaki, L; el Khalifa, MY; Farag, TI; Kasrawi, B; Marafie, MJ; Sam, T; Wahba, RA; Yadav, G	1
Allard, D; Ceballos, I; Chadefaux, B; Jérôme, H	1
Ageta, T; Kodama, H; Mizobuchi, N; Sasaki, K	1
Harper, PS	1
Beratis, NG; Fleisher, LD; Gaull, GE; Hirschhorn, K; Longhi, RC; Tallan, HH	1
Grishaver, MS; Jones, OW; Porter, PN	1
Kim, YJ; Rosenberg, LE	1
Ampola, MG	1
Finkelstein, JD	1
Fleisher, LD; Gaull, GE	1
Martin, JJ; Schlote, W	1
Dehnel, JM; Francis, MJ	1
Kroll, S; Toussaint, W; Zebisch, P	2
Bittles, AH; Carson, NA	1
Brown, DA; Gaha, TJ; McLeay, AC; Smith, A; Wilcken, B	1
Cohen, PA; Gaull, GE; Ginsberg-Fellner, F; Knittle, J; Schneidman, K; Sturman, JA	1
Yoshida, T	1
Gaull, G; Schaffner, F; Sturman, JA	1
Brill, PW; Gaull, GE; Mitty, HA	1
Opieńska-Blauth, J	1
Campbell, BK; Gartler, SM; Goldstein, JL	1
Brown, DA; Turner, B; Wilcken, B	1
Fresco, R; Wong, PW	1
Gaull, GE	1

Reviews

4 review(s) available for cystathionine and CBS Deficiency

Article	Year
Phenylketonuria and other disorders of amino acid metabolism. Pediatric clinics of North America, 1973, Volume: 20, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Child; Child, Preschool; Counseling; Cystathionine; Cystinosis; Cystinuria; Diet Therapy; Dietary Proteins; Family; Female; Hartnup Disease; Histidine; Homocystinuria; Humans; Hyperglycemia; Infant; Infant, Newborn; Lysine; Maple Syrup Urine Disease; Ornithine; Phenylketonurias; Pregnancy; Proline; Tyrosine	1973
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
Methionine metabolism in mammals: the biochemical basis for homocystinuria. Metabolism: clinical and experimental, 1974, Volume: 23, Issue:4 Topics: Alcohol Oxidoreductases; Cell-Free System; Cystathionine; Fibroblasts; Homocysteine; Homocystinuria; Humans; Hydro-Lyases; Liver; Methionine; Methylation; Methyltransferases; Protein Biosynthesis; Tetrahydrofolate Dehydrogenase; Tetrahydrofolates	1974
Methionine metabolism in man: development and deficiencies. Clinics in endocrinology and metabolism, 1974, Volume: 3, Issue:1 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Cystathionine; Female; Fetus; Heterozygote; Homocystinuria; Homozygote; Humans; Liver; Lyases; Male; Methionine; Methyltransferases; Microscopy, Electron; Mitochondria, Liver; Oxidoreductases; Phenotype; Pregnancy; Pyridoxine; Sulfites; Tetrahydrofolates	1974

Trials

1 trial(s) available for cystathionine and CBS Deficiency

Article	Year
Simultaneous determination of cystathionine, total homocysteine, and methionine in dried blood spots by liquid chromatography/tandem mass spectrometry and its utility for the management of patients with homocystinuria. Clinica chimica acta; international journal of clinical chemistry, 2014, Nov-01, Volume: 437 Topics: Adolescent; Child; Child, Preschool; Chromatography, Liquid; Cystathionine; Disease Management; Dried Blood Spot Testing; Female; Homocysteine; Homocystinuria; Humans; Infant; Infant, Newborn; Male; Methionine; Tandem Mass Spectrometry	2014

Article

Year

Simultaneous determination of cystathionine, total homocysteine, and methionine in dried blood spots by liquid chromatography/tandem mass spectrometry and its utility for the management of patients with homocystinuria.

Clinica chimica acta; international journal of clinical chemistry, 2014, Nov-01, Volume: 437

Topics: Adolescent; Child; Child, Preschool; Chromatography, Liquid; Cystathionine; Disease Management; Dried Blood Spot Testing; Female; Homocysteine; Homocystinuria; Humans; Infant; Infant, Newborn; Male; Methionine; Tandem Mass Spectrometry

2014

Other Studies

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

Article	Year
A Methionine-Portioning-Based Medical Nutrition Therapy with Relaxed Fruit and Vegetable Consumption in Patients with Pyridoxine-Nonresponsive Cystathionine-β-Synthase Deficiency. Nutrients, 2023, Jul-11, Volume: 15, Issue:14 Topics: Cystathionine; Cystathionine beta-Synthase; Diet, Protein-Restricted; Fruit; Homocysteine; Homocystinuria; Humans; Methionine; Pyridoxine; Racemethionine; Vegetables	2023
The high degree of cystathionine β-synthase (CBS) activation by S-adenosylmethionine (SAM) may explain naked mole-rat's distinct methionine metabolite profile compared to mouse. GeroScience, 2018, Volume: 40, Issue:4 Topics: Animals; Cystathionine; Cystathionine beta-Synthase; Enzyme Activation; Homocysteine; Homocystinuria; Methionine; Mice; Mole Rats; S-Adenosylhomocysteine; S-Adenosylmethionine	2018
Neutral aminoaciduria in cystathionine β-synthase-deficient mice; an animal model of homocystinuria. American journal of physiology. Renal physiology, 2014, Jun-15, Volume: 306, Issue:12 Topics: Amino Acids, Neutral; Animals; Comorbidity; Cystathionine; Cystathionine beta-Synthase; Cystathionine gamma-Lyase; Disease Models, Animal; Female; Homocystinuria; Hyperhomocysteinemia; Kidney Tubules, Proximal; Male; Methionine; Mice; Mice, Inbred C57BL; Mice, Knockout; Renal Aminoacidurias	2014
Enzymatic diagnosis of homocystinuria by determination of cystathionine-ß-synthase activity in plasma using LC-MS/MS. Clinica chimica acta; international journal of clinical chemistry, 2015, Jan-01, Volume: 438 Topics: Adolescent; Adult; Aged; Child; Child, Preschool; Chromatography, Liquid; Cystathionine; Cystathionine beta-Synthase; Female; Gene Expression; Genotype; Homocystinuria; Homozygote; Humans; Infant; Male; Middle Aged; Mutation; Pedigree; Tandem Mass Spectrometry	2015
Thioethers as markers of hydrogen sulfide production in homocystinurias. Biochimie, 2016, Volume: 126 Topics: Alanine; Cells, Cultured; Cystathionine; Cystathionine beta-Synthase; Female; Fibroblasts; Homocystinuria; Humans; Hydrogen Sulfide; Male; Sulfides	2016
Cystathionine protects against endoplasmic reticulum stress-induced lipid accumulation, tissue injury, and apoptotic cell death. The Journal of biological chemistry, 2012, Sep-14, Volume: 287, Issue:38 Topics: Animals; Anti-Bacterial Agents; Apoptosis; Cystathionine; Cystathionine beta-Synthase; Endoplasmic Reticulum; HEK293 Cells; Hep G2 Cells; Homocystinuria; Humans; Lipids; Male; Mice; Mice, Inbred C57BL; Models, Biological; Mutation; Necrosis; Neuroblastoma; Protein Denaturation; Tunicamycin	2012
HOMOCYSTINURIA: ABSENCE OF CYSTATHIONINE IN THE BRAIN. Science (New York, N.Y.), 1964, Aug-07, Volume: 145, Issue:3632 Topics: Amino Acids; Brain; Child; Chromatography; Cystathionine; Cystathionine beta-Synthase; Cystine; Homocystinuria; Humans; Hydro-Lyases; Kidney; Liver; Metabolic Diseases; Methionine; Nerve Tissue Proteins; Renal Aminoacidurias; Serine; Taurine; Transferases	1964
Retinal degeneration in vitamin B12 disorder associated with methylmalonic aciduria and sulfur amino acid abnormalities. American journal of ophthalmology, 1984, Volume: 97, Issue:6 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Sulfur; Child, Preschool; Cystathionine; Growth Disorders; Homocystinuria; Humans; Hydroxocobalamin; Male; Malonates; Methionine; Methylmalonic Acid; Retinal Degeneration; Vitamin B 12	1984
Disposition of homocysteine in subjects heterozygous for homocystinuria due to cystathionine beta-synthase deficiency: relationship between genotype and phenotype. American journal of medical genetics, 2001, May-01, Volume: 100, Issue:3 Topics: Adolescent; Adult; Aged; Cystathionine; Cystathionine beta-Synthase; DNA; Female; Genotype; Heterozygote; Homocysteine; Homocystinuria; Humans; Male; Methionine; Middle Aged; Mutation; Phenotype; Reference Values	2001
Sulfur amino acids, hyperglycinemia, and certain possibly benign conditions. Clinics in perinatology, 1976, Volume: 3, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Sulfur; Cystathionine; Diagnosis, Differential; Disulfides; Glycine; Hartnup Disease; Histidine; Histidine Ammonia-Lyase; Homocystinuria; Humans; Methionine; Proline; Sulfites	1976
A screening test for sulphur-containing metabolites in urine using auxotrophic mutants of Escherichia coli K12. Biochemical medicine, 1975, Volume: 12, Issue:3 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Biological Assay; Cystathionine; Cystinuria; Escherichia coli; Homocystinuria; Humans; Infant, Newborn; Methods; Mutation; S-Adenosylhomocysteine; S-Adenosylmethionine; Sulfur	1975
Cystathioninuria and homocystinuria. Clinica chimica acta; international journal of clinical chemistry, 1975, Jan-06, Volume: 58, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Bacteria; Cystathionine; Female; Homocystinuria; Humans; Infant; Specimen Handling; Thymol; Toluene; Urine	1975
Homocystinuria due to cystathionine synthase deficiency. Studies of nitrogen balance and sulfur excretion. The Journal of clinical investigation, 1975, Volume: 55, Issue:5 Topics: Adolescent; Adult; Amino Acids; Child; Cystathionine; Cystine; Diet; Female; Homocystinuria; Humans; Hydro-Lyases; Male; Methionine; Nitrogen; Pyridoxine; Sulfur	1975
[Inherited metabolic disorders of the transsulfuration pathway]. Nihon rinsho. Japanese journal of clinical medicine, 1992, Volume: 50, Issue:7 Topics: Amino Acid Metabolism, Inborn Errors; Cystathionine; Cystathionine beta-Synthase; Homocystinuria; Humans; Methionine; Methylenetetrahydrofolate Reductase (NADPH2); Oxidoreductases Acting on CH-NH Group Donors; Vitamin B 12	1992
[Vitamin B6 dependency syndrome]. Nihon rinsho. Japanese journal of clinical medicine, 1992, Volume: 50, Issue:7 Topics: Amino Acid Metabolism, Inborn Errors; Aspartate Aminotransferases; Cystathionine; Homocystinuria; Humans; Hyperoxaluria; Ornithine; Pyridoxal Phosphate; Pyridoxine	1992
Aminoacidopathies among institutionalised mentally retarded in Kuwait. Clinical genetics, 1992, Volume: 42, Issue:4 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Cystathionine; Female; Homocystinuria; Humans; Intellectual Disability; Kuwait; Lysine; Male; Phenylketonurias	1992
[Effects of gene localization and its metabolic significance in trisomy 21]. Bulletin de l'Academie nationale de medecine, 1985, Volume: 169, Issue:9 Topics: Chromosome Mapping; Chromosomes, Human, 21-22 and Y; Cystathionine; Cystathionine beta-Synthase; Down Syndrome; Fibroblasts; Homocysteine; Homocystinuria; Humans; Methionine	1985
Isotachophoretic analyses of cystine, homocystine and cystathionine in urines from patients with inborn errors of metabolism. Journal of chromatography, 1986, Oct-31, Volume: 382 Topics: Amino Acids; Autoanalysis; Cystathionine; Cystinuria; Electrophoresis; Homocystinuria; Humans	1986
Inborn errors of metabolism-the relationship of clinical and biochemical abnormalities. Acta Universitatis Carolinae. Medica. Monographia, 1973, Volume: 56 Topics: Cystathionine; Diseases in Twins; Glutamine; Homocystinuria; Humans; Infant, Newborn; Intellectual Disability; Lesch-Nyhan Syndrome; Metabolism, Inborn Errors; NADH, NADPH Oxidoreductases; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias	1973
Homocystinuria: investigations of cystathionine synthase in cultured fetal cells and the prenatal determination of genetic status. The Journal of pediatrics, 1974, Volume: 85, Issue:5 Topics: Adult; Amino Acids; Biological Assay; Biopsy; Cells, Cultured; Child; Clinical Enzyme Tests; Cystathionine; Fetus; Fibroblasts; Homocystinuria; Humans; Hydro-Lyases; Prenatal Diagnosis; Skin	1974
Characterization of human cystathionine beta-synthase. Evidence for the identity of human L-serine dehydratase and cystathionine beta-synthase. Biochimica et biophysica acta, 1974, Sep-11, Volume: 364, Issue:1 Topics: Carbon Radioisotopes; Cells, Cultured; Centrifugation, Density Gradient; Chromatography, DEAE-Cellulose; Chromatography, Gel; Chromatography, Thin Layer; Cystathionine; Drug Stability; Female; Fetus; Fibroblasts; Homocystinuria; Hot Temperature; Humans; Hydro-Lyases; Hydroxylamines; Kinetics; L-Serine Dehydratase; Liver; Pregnancy; Serine; Spectrophotometry, Ultraviolet; Sulfides; Time Factors	1974
On the mechanism of pyridoxine responsive homocystinuria. II. Properties of normal and mutant cystathionine beta-synthase from cultured fibroblasts. Proceedings of the National Academy of Sciences of the United States of America, 1974, Volume: 71, Issue:12 Topics: Adult; Carbon Radioisotopes; Cells, Cultured; Child; Cystathionine; Enzyme Activation; Fibroblasts; Homocystinuria; Hot Temperature; Humans; Hydro-Lyases; Kinetics; Male; Mutation; Pyridoxal; Serine	1974
Neuropathological study of aminoacidurias. Monographs in human genetics, 1972, Volume: 6 Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Central Nervous System; Cystathionine; Female; Glycine; Homocystinuria; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Male; Maple Syrup Urine Disease; Middle Aged; Phenylketonurias; Renal Tubular Transport, Inborn Errors; Sex Factors; Tyrosine; Urea	1972
Somatomedin (sulphation factor)-like activity of homocystine. Clinical science, 1972, Volume: 43, Issue:6 Topics: Animals; Cartilage; Cystathionine; Homocystine; Homocystinuria; Humans; In Vitro Techniques; Male; Methionine; Rats; Ribs; Serum Albumin, Bovine; Somatomedins; Sulfatases; Sulfates; Sulfur Isotopes	1972
[Hereditary amino acid metabolism disorders. Indications for early diagnosis]. Fortschritte der Medizin, 1972, Apr-13, Volume: 90, Issue:11 Topics: Albinism; Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Cystathionine; Cystinosis; Diagnosis, Differential; Glycine; Hartnup Disease; Histidine; Homocystinuria; Humans; Infant; Infant, Newborn; Maple Syrup Urine Disease; Methods; Methylmalonic Acid; Phenylketonurias; Proline; Propionates; Tyrosine	1972
[Diagnosis of inborn amino acid metabolism errors. Important symptoms and laboratory methods]. Fortschritte der Medizin, 1972, Apr-13, Volume: 90, Issue:11 Topics: Albinism; Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Clinical Laboratory Techniques; Cystathionine; Cystinosis; Glycine; Hartnup Disease; Histidine; Homocystinuria; Humans; Maple Syrup Urine Disease; Methods; Methylmalonic Acid; Phenylketonurias; Proline; Propionates; Tyrosine	1972
Tissue culture techniques as an aid to prenatal diagnosis and genetic counselling in homocystinuria. Journal of medical genetics, 1973, Volume: 10, Issue:2 Topics: Adult; Biopsy; Clinical Enzyme Tests; Culture Techniques; Cystathionine; Female; Fibroblasts; Genetic Counseling; Heterozygote; Homocystinuria; Humans; Infant, Newborn; Pregnancy; Prenatal Diagnosis; Pyridoxine; Tryptophanase	1973
Screening for metabolic diseases in New South Wales. The Medical journal of Australia, 1973, Jun-09, Volume: 1, Issue:23 Topics: Australia; Biological Assay; Chromatography, Paper; Cystathionine; Cystinuria; Female; Hartnup Disease; Homocystinuria; Humans; Infant, Newborn; Male; Mass Screening; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Seasons	1973
High pyridoxine diet in the rat: possible implications for megavitamin therapy. The Journal of nutrition, 1973, Volume: 103, Issue:1 Topics: Adipose Tissue; Animal Nutritional Physiological Phenomena; Animals; Body Weight; Cell Count; Cystathionine; Epididymis; Homocystinuria; Humans; Hydro-Lyases; L-Serine Dehydratase; Lipid Metabolism; Liver; Male; Protein Biosynthesis; Proteins; Pyridoxine; Rats; Structure-Activity Relationship; Sulfur Isotopes	1973
[Vitamin B 6 dependency]. Nihon rinsho. Japanese journal of clinical medicine, 1973, Aug-10, Volume: 31, Issue:8 Topics: Child; Cystathionine; Female; Homocystinuria; Humans; Infant; Male; Metabolism, Inborn Errors; Pyridoxine; Xanthurenates	1973
Homocystinuria due to cystathionine synthase deficiency: enzymatic and ultrastructural studies. The Journal of pediatrics, 1974, Volume: 84, Issue:3 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Biopsy, Needle; Child; Child, Preschool; Cystathionine; Female; Heterozygote; Homocysteine; Homocystinuria; Humans; Hydro-Lyases; Liver; Male; Methionine; Mitochondria, Liver; Pyridoxine; Transferases; Transketolase	1974
Homocystinuria due to cystathionine synthase deficiency: clinical-roentgenologic correlations. The American journal of roentgenology, radium therapy, and nuclear medicine, 1974, Volume: 121, Issue:1 Topics: Adult; Bone Diseases; Child; Child, Preschool; Cystathionine; Eye Manifestations; Female; Homocystinuria; Humans; Hydro-Lyases; Male; Pyridoxine; Radiography	1974
[Amino acids in physiology and pathology. Biochemical aspects of homocystinuria and cystathionuria]. Folia medica Cracoviensia, 1974, Volume: 16, Issue:1 Topics: Cystathionine; Homocystine; Homocystinuria; Humans	1974
Cystathionine synthase activity in human lymphocytes: induction by phytohemagglutinin. The Journal of clinical investigation, 1972, Volume: 51, Issue:4 Topics: Adolescent; Adult; Cells, Cultured; Chromatography, Thin Layer; Cystathionine; Enzyme Induction; Female; Homocystinuria; Humans; Hydro-Lyases; In Vitro Techniques; Lectins; Lymphocytes; Male; Middle Aged; Serine	1972
Detection of abnormal sulphur-containing amino acid excretion in a mass urine-screening programme. The Medical journal of Australia, 1972, Jun-03, Volume: 1, Issue:23 Topics: Amino Acid Metabolism, Inborn Errors; Cystathionine; Female; Homocystinuria; Humans; Infant; Male; Mass Screening; Methionine; Renal Aminoacidurias; Sulfur	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
Homocystinuria, vitamin B 6 , and folate: metabolic interrelationships and clinical significance. The Journal of pediatrics, 1972, Volume: 81, Issue:5 Topics: Alcohol Oxidoreductases; Cystathionine; Folic Acid; Glycine; Homocystine; Homocystinuria; Humans; L-Serine Dehydratase; Metabolic Diseases; Methionine; Methyltransferases; Pyridoxine; Tetrahydrofolates; Transferases; Vitamin B 12	1972