cystine and CBS Deficiency

cystine has been researched along with CBS Deficiency in 47 studies

Research

Studies (47)

Timeframe	Studies, this research(%)	All Research%
pre-1990	42 (89.36)	18.7374
1990's	0 (0.00)	18.2507
2000's	5 (10.64)	29.6817
2010's	0 (0.00)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
GERRITSEN, T; WAISMAN, HA	1
CARSON, NA; GIBSON, JB; NEILL, DW	1
Evans, A	1
Carson, NA	1
Finkelstein, JD; Mudd, SH	1
Arakawa, T; Hirono, H; Tada, K; Yoshida, T	1
Boers, GH; Drayer, JI; Kloppenborg, PW; Leermakers, AI; Smals, AG; Trijbels, FJ	1
Gaull, GE; Malloy, MH; Rassin, DK	1
Cleophas, AJ; Drayer, JI; Kloppenborg, PW; Smals, AG; Trijbels, JM	1
Gröbe, H	2
Mann, GV	1
Boers, GH; Naughten, ER; Wilcken, B; Wilcken, DE; Yap, S	1
Howard, PM; Naughten, ER; Rushe, H; Yap, S	1
Howard, PM; Mulvihill, A; Naughten, ER; O'Keefe, M; Yap, S	1
Gaull, GE; Longhi, RC; Rassin, DK; Sternowsky, HJ; Sturman, JA	1
Wilcken, B; Wilcken, DE	1
Jung, EG; Lutz, P; Paweletz, N; Wiest, LG	1
Conerly, EB; Edwards, WA; Mudd, SH; Poole, JR	1
Garg, S; Norton, PM; Phansalkar, SV; Sansaricq, C; Snyderman, SE	1
Baker, SJ; Boeckler, WH; Ts'o, TO	1
Crawford, LE; Hansen, S; Love, DL; Perry, TL; Tischler, B	1
Frimpter, GW	1
Turner, B; Wilcken, B	1
Carson, NA; Ritchie, JW	1
Brandt, NJ; Hilden, M; Nilsson, IM; Schonheyder, F	1
Fowler, B; Komrower, GM; Robins, AJ; Sardharwalla, IB	1
Fowler, B; Sardharwalla, IB	1
Durant, JL; Rosenberg, LE; Seashore, MR	1
Barkin, E; Levy, HL	1
Lutz, P; Schmidt, H	1
Gaull, G	1
Fenichel, GM	1
Sinclair, S; Verma, IC	1
Tamimie, HS	1
Bensch, K; Hagberg, B; Hambraeus, L	1
Mitchell, PJ	1
Bradley, KH; Schneider, JA; Seegmiller, JE	1
Gilder, SS	1
Ellis, BA; Kaeser, AC; Rodnight, R	1
Gjessing, LR; Seip, M; Vellan, EJ	1
Carré, IJ; Carson, NA	1
Dolman, CL; Dunn, HG; Perry, TL	1
Cusworth, DC; Komrower, GM; Lambert, AM; Westall, RG	1
Brenton, DP; Cusworth, DC	1
Gaitonde, MK; Gaull, G	1

Reviews

3 review(s) available for cystine and CBS Deficiency

Article	Year
Vascular complications of severe hyperhomocysteinemia in patients with homocystinuria due to cystathionine beta-synthase deficiency: effects of homocysteine-lowering therapy. Seminars in thrombosis and hemostasis, 2000, Volume: 26, Issue:3 Topics: Adolescent; Adult; Aged; Australia; Child; Child, Preschool; Cohort Studies; Cystine; Drug Resistance; Female; Folic Acid; Follow-Up Studies; Genetic Predisposition to Disease; Homocysteine; Homocystinuria; Humans; Hyperhomocysteinemia; Infant; Ireland; Male; Methionine; Middle Aged; Netherlands; Pyridoxine; Risk; Risk Factors; Thrombophilia; Vascular Diseases; Vitamin B 12	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
Tissue-specific changes in levels of enzymes of methionine metabolism. Nutrition reviews, 1968, Volume: 26, Issue:7 Topics: Age Factors; Amino Acids; Animals; Cystine; Dietary Proteins; Homocystinuria; Hormones; Humans; Hydro-Lyases; Methionine; Rats; Transferases	1968

Other Studies

44 other study(ies) available for cystine and CBS Deficiency

Article	Year
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
PATHOLOGICAL FINDINGS IN HOMOCYSTINURIA. Journal of clinical pathology, 1964, Volume: 17 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arachnodactyly; Child; Cystine; Fatty Liver; Homocystinuria; Humans; Intellectual Disability; Intracranial Embolism; Intracranial Embolism and Thrombosis; Kidney; Marfan Syndrome; Pathology; Renal Aminoacidurias; Thrombosis; Vascular Diseases	1964
Commentary: Sibling trials in Banbridge, County Down. International journal of epidemiology, 2008, Volume: 37, Issue:1 Topics: Adolescent; Ascorbic Acid; Clinical Trials as Topic; Cystine; Female; History, 20th Century; Homocystinuria; Humans; Male; Methemoglobinemia; Siblings; United Kingdom	2008
Homocystinuria. Trial treatment of a 5-year old severely retarded child with a natural diet low in methionine. American journal of diseases of children (1960), 1967, Volume: 113, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Body Height; Body Weight; Child, Preschool; Cystine; Diet Therapy; Female; Growth; Homocystinuria; Humans; Hydro-Lyases; Intellectual Disability; Methionine; Neurologic Manifestations	1967
Trans-sulfuration in mammals. The methionine-sparing effect of cystine. The Journal of biological chemistry, 1967, Mar-10, Volume: 242, Issue:5 Topics: Cystine; Folic Acid; Homocystinuria; Humans; Hydro-Lyases; Liver; Methionine; Transferases	1967
Homocystinuria: amino acid pattern of the liver. The Tohoku journal of experimental medicine, 1967, Volume: 92, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Autoanalysis; Child, Preschool; Cystine; Homocystine; Homocystinuria; Humans; Hydro-Lyases; Intellectual Disability; Liver; Male; Methionine	1967
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
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
Symptoms, diagnostic pitfalls, and treatment of homocystinuria in seven adult patients. The Netherlands journal of medicine, 1980, Volume: 23, Issue:2 Topics: Adult; Cyanides; Cystine; Female; Homocystine; Homocystinuria; Humans; Male; Methionine; Middle Aged; Pyridoxine	1980
Homocystinuria (cystathionine synthase deficiency). Results of treatment in late-diagnosed patients. European journal of pediatrics, 1980, Volume: 135, Issue:2 Topics: Adolescent; Adult; Age Factors; Child; Child, Preschool; Cystine; Endarteritis; Female; Homocystinuria; Humans; Infant; Male; Pyridoxine; Retinal Artery; Thromboembolism	1980
The homocysteine question. Lancet (London, England), 2000, Apr-01, Volume: 355, Issue:9210 Topics: Coronary Disease; Cystine; Homocysteine; Homocystinuria; Humans	2000
The intellectual abilities of early-treated individuals with pyridoxine-nonresponsive homocystinuria due to cystathionine beta-synthase deficiency. Journal of inherited metabolic disease, 2001, Volume: 24, Issue:4 Topics: Adolescent; Adult; Child; Child, Preschool; Cystathionine beta-Synthase; Cystine; Diet; Drug Resistance; Homocystine; Homocystinuria; Humans; Infant, Newborn; Intelligence; Intelligence Tests; Methionine; Neonatal Screening; Patient Compliance; Psychometrics; Pyridoxine	2001
Ocular findings among patients with late-diagnosed or poorly controlled homocystinuria compared with a screened, well-controlled population. Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus, 2001, Volume: 5, Issue:5 Topics: Adult; Aging; Astigmatism; Child; Child, Preschool; Cystine; Disease Progression; Female; Homocystine; Homocystinuria; Humans; Infant; Lens Subluxation; Male; Methionine; Myopia; Time Factors; Visual Acuity; Vitamin B 6	2001
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
The pathogenesis of coronary artery disease. A possible role for methionine metabolism. The Journal of clinical investigation, 1976, Volume: 57, Issue:4 Topics: Coronary Disease; Cystine; Heterozygote; Homocysteine; Homocystinuria; Humans; Male; Methionine; Middle Aged	1976
[Morphological and biochemical investigations of hairs in inborn errors of amino acid metabolism (author's transl)]. Archives for dermatological research = Archiv fur dermatologische Forschung, 1976, Jul-26, Volume: 256, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Cystine; Hair; Homocystinuria; Humans; Keratins; Phenylketonurias; Tyrosine	1976
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
Cystine deficiency during dietotherapy of homocystinemia. Acta paediatrica Scandinavica, 1975, Volume: 64, Issue:2 Topics: Body Weight; Child; Cystine; Deficiency Diseases; Diet Therapy; Homocystinuria; Humans; Male	1975
Enhancement of acquistion and performance of level-pressing behavior in rats by an experimental diet. Psychopharmacologia, 1975, Apr-30, Volume: 42, Issue:1 Topics: Animal Feed; Animals; Body Weight; Conditioning, Operant; Cystine; Food Deprivation; Food Preferences; Glycine max; Homocystinuria; Homoserine; Humans; Lactones; Male; Motivation; Plants, Edible; Rats; Reinforcement Schedule; Reinforcement, Psychology; Water Deprivation; Zea mays	1975
Treatment of homocystinuria with a low-methionine diet, supplemental cystine, and a methyl donor. Lancet (London, England), 1968, Aug-31, Volume: 2, Issue:7566 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Child, Preschool; Choline; Cystine; Diet Therapy; Female; Follow-Up Studies; Homocystine; Homocystinuria; Humans; Intellectual Disability; Male; Methionine; Pyridoxine; Thrombosis	1968
Homocystinuria. Reduced folate levels during pyridoxine treatment. Archives of disease in childhood, 1973, Volume: 48, Issue:1 Topics: Child; Child, Preschool; Cystine; Erythrocytes; Female; Folic Acid; Homocysteine; Homocystine; Homocystinuria; Humans; Infant; Male; Metabolic Diseases; Methionine; Methyltransferases; Pyridoxine	1973
[Homocystinuria: clinical picture, therapy and results in 8 patients]. Deutsche medizinische Wochenschrift (1946), 1973, Jul-06, Volume: 98, Issue:27 Topics: Body Weight; Child; Child, Preschool; Cystine; Dietary Proteins; Female; Hair; Homocystine; Homocystinuria; Humans; Infant; Intellectual Disability; Methionine; Pyridoxine	1973
Pregnancy and homocystinuria. The Journal of obstetrics and gynaecology of the British Commonwealth, 1973, Volume: 80, Issue:7 Topics: Adult; Amnion; Blood Coagulation Tests; Cell Line; Cystine; Female; Fibroblasts; Folic Acid; Homocystine; Homocystinuria; Humans; L-Serine Dehydratase; Methionine; Pregnancy; Pregnancy Complications; Pyridoxine; Vitamin B 12	1973
Investigations of coagulation and fibrinolysis in homocystinuria. Acta medica Scandinavica, 1974, Volume: 195, Issue:6 Topics: Adult; Blood Coagulation; Cystine; Diet; Factor V; Female; Fibrinogen; Fibrinolysis; Folic Acid; Homocystine; Homocystinuria; Humans; Methionine; Platelet Adhesiveness; Pyridoxine	1974
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
Studies of the mechanism of pyridoxine-responsive homocystinuria. Pediatric research, 1972, Volume: 6, Issue:3 Topics: Adolescent; Cells, Cultured; Cystine; Cystinuria; Fibroblasts; Homocystine; Homocystinuria; Humans; In Vitro Techniques; L-Serine Dehydratase; Male; Methionine; Pyridoxine; Skin	1972
Comparison of amino acid concentrations between plasma and erythrocytes. Studies in normal human subjects and those with metabolic disorders. The Journal of laboratory and clinical medicine, 1971, Volume: 78, Issue:4 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Aspartic Acid; Biological Transport; Child; Chromatography, Ion Exchange; Cystine; Erythrocytes; Glutamates; Glutathione; Glycine; Histidine; Homocystine; Homocystinuria; Humans; Infant; Maple Syrup Urine Disease; Methionine; Ornithine; Phenylketonurias; Plasma; Renal Tubular Transport, Inborn Errors; Serine; Spectrophotometry; Threonine; Tyrosine	1971
[Homocystinuria in Central Europe. Results of a survey]. Deutsche medizinische Wochenschrift (1946), 1971, Nov-05, Volume: 96, Issue:45 Topics: Austria; Child; Child, Preschool; Cystine; Diet Therapy; Germany, East; Germany, West; Homocystinuria; Humans; Infant; Netherlands; Pyridoxine; Sex Factors; Switzerland	1971
[Clinical and biochemical aspects of homocystinuria]. Monatsschrift fur Kinderheilkunde, 1969, Volume: 117, Issue:1 Topics: Age Factors; Amino Acids; Brain Chemistry; Child; Child, Preschool; Cystine; Diet Therapy; Female; Genes, Recessive; Homocystine; Homocystinuria; Humans; Male; Methionine; Thromboembolism	1969
Recent clinical advances in the treatment of neurological diseases. Pediatric clinics of North America, 1970, Volume: 17, Issue:2 Topics: Brain Diseases; Child, Preschool; Chronic Disease; Cystine; Diet Therapy; Dopamine; Folic Acid; Homocystinuria; Humans; Infant; Maple Syrup Urine Disease; Methionine; Movement Disorders; Muscular Diseases; Pyridoxine; Serotonin	1970
Homocystinuria. Report of two cases in siblings. Indian journal of pediatrics, 1970, Volume: 37, Issue:269 Topics: Child; Cystine; Diet Therapy; Female; Folic Acid; Homocystinuria; Humans; Intellectual Disability; Lens, Crystalline; Male; Pedigree; Pyridoxine	1970
Feeding chicks high levels of L-methionine-supplemented diets in the study of the experimental aspects of homocystinuria. Comparative biochemistry and physiology, 1970, Jun-15, Volume: 34, Issue:4 Topics: Animals; Chickens; Cystine; Diet; Growth; Homocystinuria; Humans; Joints; Male; Methionine	1970
A case of homocystinuria with a dystonic neurological syndrome. Neuropadiatrie, 1970, Volume: 1, Issue:3 Topics: Adolescent; Cystine; Extrapyramidal Tracts; Folic Acid; Homocystine; Homocystinuria; Humans; Male; Methionine; Movement Disorders; Muscle Tonus; Muscular Diseases; Prognosis; Pyridoxine; Taurine	1970
[Homocystinuria: report of a case]. South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 1971, Mar-13, Volume: 45, Issue:11 Topics: Adult; Cystine; Diet Therapy; Homocystinuria; Humans; Male; Radiography	1971
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
Homocystinuria. Canadian Medical Association journal, 1968, Nov-23, Volume: 99, Issue:20 Topics: Child; Child, Preschool; Cystine; Diet Therapy; Homocystinuria; Humans; Infant; Intellectual Disability; Thrombosis	1968
Psychiatric and biochemical aspects of a case of homocystinuria. Journal of neurology, neurosurgery, and psychiatry, 1969, Volume: 32, Issue:2 Topics: Adult; Cystine; Female; Homocystinuria; Humans; Male; Mental Disorders; Methionine; Middle Aged; Pedigree; Psychological Tests; Pyridoxine	1969
Hair amino acids in cystinosis, homocystinuria, Fölling's disease and tyrosinosis. Acta paediatrica Scandinavica, 1969, Volume: 58, Issue:3 Topics: Amino Acids; Autoanalysis; Citrulline; Cystine; Cystinosis; Female; Hair; Homocysteine; Homocystinuria; Humans; In Vitro Techniques; Male; Metabolic Diseases; Methionine; Methods; Phenylalanine; Phenylketonurias; Proline; Tyrosine	1969
Treatment of homocystinuria with pyridoxine. A preliminary study. Archives of disease in childhood, 1969, Volume: 44, Issue:235 Topics: Adolescent; Adult; Aminobutyrates; Child; Child, Preschool; Cystine; Female; Folic Acid; Folic Acid Deficiency; Homocystine; Homocystinuria; Humans; Hydro-Lyases; Infant; L-Serine Dehydratase; Male; Methionine; Pyridoxine	1969
Homocystinuria. A recently discovered cause of mental defect and cerebrovascular thrombosis. Neurology, 1966, Volume: 16, Issue:4 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Animals; Blood; Blood Coagulation Disorders; Brain; Child; Child, Preschool; Cystine; Electroencephalography; Female; Homocysteine; Homocystine; Homocystinuria; Humans; In Vitro Techniques; Infant; Intellectual Disability; Intracranial Embolism and Thrombosis; Kidney Diseases; Male; Methionine; Taurine; Urine	1966
Dietary treatment of homocystinuria. Archives of disease in childhood, 1966, Volume: 41, Issue:220 Topics: Amino Acid Metabolism, Inborn Errors; Body Height; Body Weight; Cystine; Diet Therapy; Female; Homocystinuria; Humans; Infant, Newborn; Intellectual Disability; Methionine	1966
Homocystinuria: metabolism of [35S]methionine. Clinical science, 1966, Volume: 31, Issue:2 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Cystine; Female; Homocystine; Homocystinuria; Humans; L-Serine Dehydratase; Male; Methionine; Sulfonic Acids; Sulfur Isotopes	1966
Homocystinuria: an observation on the inheritance of cystathionine synthase deficiency. Journal of medical genetics, 1966, Volume: 3, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Child; Chromatography, Paper; Cystine; Homocysteine; Homocystinuria; Humans; Hydro-Lyases; Intellectual Disability; Lens, Crystalline; Male; Methionine; Middle Aged; Sulfur Isotopes	1966