Page last updated: 2024-08-21

homocystine and CBS Deficiency

homocystine has been researched along with CBS Deficiency in 124 studies

Research

Studies (124)

Timeframe	Studies, this research(%)	All Research%
pre-1990	93 (75.00)	18.7374
1990's	16 (12.90)	18.2507
2000's	14 (11.29)	29.6817
2010's	1 (0.81)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
Gao, XL; Gu, XF; Han, LS; Huang, Z; Ji, WJ; Li, XY; Qiu, WJ; Wang, Y; Ye, J; Zhang, HW	1
Bonham, JR; Lee, PJ; Lewis, MJ; McDowell, IF; Moat, SJ; Powers, HJ; Pullin, CH; Wilson, JF	1
Bao, L; Gilfix, BM; Greenberg, CR; Kraus, JP; Kurczynski, TW; Levy, HL; MacGregor, D; Prasad, C; Roeder, ER; Rosengren, S; Schwartz, RS; Shih, VE; Vargas, JE; Waisbren, SE	1
Yap, S	1
BRENTON, DP; CUSWORTH, DC; GAULL, GE	1
McCully, KS	2
Howard, P; Lanigan, B; Mulvihill, A; Naughten, E; O'Keeffe, M; Yap, S	1
Alscher, DM; Benzinger, P	1
Bakogiannis, C; Kalimeris, K; Schulpis, KH; Tsakiris, S; Tsakiris, T	1
Barling, L; Nightingale, S; Sinclair, AJ	1
Anders, PW; Curtius, HC; Prader, A; Tancredi, F; Werder, EA	1
Smith, SW	1
Hansen, S; MacDougall, L; Perry, TL; Warrington, PD	1
Yoshida, T	1
Greer, M; Williams, CM	1
Arakawa, T; Hirono, H; Tada, K; Yoshida, T	1
Boers, GH; de Groot, PG; Gonsalves, MD; van Aken, WG; van Mourik, JA; Willems, C	1
Berio, A	1
Calabrese, EJ	1
Boers, GH; Drayer, JI; Kloppenborg, PW; Leermakers, AI; Smals, AG; Trijbels, FJ	1
Baumgartner, R; Maurer, R; Ohnacker, H; Probst, A; Wick, H	1
Benevenga, NJ; Smolin, LA	1
Reddy, GS; Wilcken, DE	1
Curley, K; Kang, SS; Wong, PW	1
Abbott, M; Camargo, EE; Engin, S; Guilarte, TR; Hill, J; Hill-Zobel, RL; Malpica, O; McIntyre, PA; Murphy, EA; Pyeritz, RE; Scheffel, U; Tsan, MF	1
Benevenga, NJ; Berlow, S; Smolin, LA	1
Gaull, GE; Malloy, MH; Rassin, DK	1
Cleophas, AJ; Drayer, JI; Kloppenborg, PW; Smals, AG; Trijbels, JM	1
Horwitz, A; Kang, SS; Walk, D	1
Hamano, H; Nagayama, M; Nanba, A; Shinohara, Y; Takizawa, S	1
Bradley, D; McDowell, I	1
Sansaricq, C; Snyderman, SE	1
Arnold, G; Barness, LA; Harding, CO; Rosenblatt, DS; Wolff, JA	1
Bass, HN; Cederbaum, SD; Chetty, M; Fuster, CD; LaGrave, D; Mardach, R	1
Andersson, HC; Shapira, E	1
Bradley, L; Korson, MS; Levy, HL; Smith, KL	1
Fowler, B; Jakobs, C	1
Alpert, MA	1
Beatty, S; Lloyd, IC; Patton, N; Wraith, JE	1
Amirthalakshmi, S; Ramakrishnan, S; Sulochana, KN; Tamilselvi, R; Vasanthi, SB	1
Sansaricq, C; Snyderman, SE; Topaloglu, AK	1
Howard, PM; Naughten, ER; Rushe, H; Yap, S	1
Howard, PM; Mulvihill, A; Naughten, ER; O'Keefe, M; Yap, S	1
Biancheri, R; Caruso, U; Cerone, R; Minniti, G; Perrone, MV; Rossi, A; Schiaffino, MC; Tortori-Donati, P; Veneselli, E	1
Griffiths, R; Thomas, J; Tudball, N	1
Enzenauer, J; Matz, D; Menne, F	1
Wada, Y	1
Becker, N; Kang, SS; Wong, PW	1
Hladovec, J	1
Borgheresi, S; Zammarchi, E	1
Harker, LA; Scott, CR	1
Gaull, GE; Longhi, RC; Rassin, DK; Sternowsky, HJ; Sturman, JA	1
Scott, CR	1
Lucky, AW; Mudd, SH; Schulman, JD; Shulman, NR; TenPas, JH; Uhlemann, ER	1
Peng, LH; Perumal, R	1
Finkelstein, JD; Freeman, JM; Mudd, SH	1
Baldessarini, RJ	1
Davis, JW; Flournoy, LD; Phillips, PE	1
Dettmers, C; Hartmann, A; Liappis, N; Rao, ML; Schwarting, A	1
Cochran, FB; Packman, S	1
Bick, U; Fahrendorf, G; Ludolph, AC; Przyrembel, H; Ullrich, K	1
Besana, C; Capoferri, C	1
McGill, JJ; Mettler, G; Rosenblatt, DS; Scriver, CR	1
Malinow, MR	1
Holme, E; Kjellman, B; Ronge, E	1
Rabenstein, DL; Yamashita, GT	1
Bernardini, I; Chen, S; Gahl, WA; Horvath, K; Kurtz, D	1
Turner, B	1
Crawford, LE; Hansen, S; Love, DL; Perry, TL; Tischler, B	1
Cusworth, DC; Gattereau, A	1
Hunter, KR	1
Spaet, TH	1
Harker, LA; Ross, R; Scott, CR; Slichter, SJ	1
Ikegami, T; Kodama, H; Oura, T; Yao, K	1
Cline, JW; Goyer, RA; Lipton, J; Mason, RG	1
Hambraeus, L; Holmgren, G; Lestrup, E; Tangen, O	1
Sviatkina, OB; Vel'tishchev, IuE	1
Koppanyi, ZH; Wapnir, RA	1
Dehnel, JM; Francis, MJ	1
Turner, B; Wilcken, B	1
Edwards, WA; Falchuk, ZM; Laster, L	1
Gröbe, H	1
Conerly, EB; Mudd, SH; Uhlendorf, BW	1
Carson, NA; Ritchie, JW	1
Kang, AH; Trelstad, RL	1
Chavez, Y; Cobo, A; Lisker, R; Zavala, C	1
Gebala, A; Kozlowska, T	1
Brandt, NJ; Hilden, M; Nilsson, IM; Schonheyder, F	1
Opieńska-Blauth, J	1
Fowler, B; Komrower, GM; Robins, AJ; Sardharwalla, IB	1
Brandt, NJ; Hilden, M; Quaade, F; Schonheyder, F	1
Maya, A; Sabater, J	1
Durant, JL; Rosenberg, LE; Seashore, MR	1
Gaull, GE	1
Applegarth, DA; Auckland, NL; Bozoian, G; Hardwick, DF; Ingram, F	1
Barkin, E; Levy, HL	1
Fowler, B; Robins, AJ; Sardharwalla, IB	1
Spaeth, GL	1
Copeland, W; Kelly, S; Leikhim, E	1
Gaull, G	1
Middleton, JE	1
Brown, MS; Edwards, WA; Laster, L; Loeb, PM; Mudd, SH	1
Byers, RK; Gerald, PS; Kang, ES	1
Falk, W	1
Efron, ML; Shih, VE	1
Hagge, W; Irtel von Brenndorff, A	1
Bensch, K; Hagberg, B; Hambraeus, L	1
Crooke, JW; Taylor, WH; Towers, JF	1
Bradley, KH; Schneider, JA; Seegmiller, JE	1
Anders, PW; Curtius, HC; Martenet, AC	1
Mudd, SH; Uhlendorf, BW	1
Carey, MC; Fennelly, JJ; FitzGerald, O	1
Hagberg, B; Hambraeus, L	1
Ratnoff, OD	1
Abeles, RH; Jennedy, JP; Levy, HL; Mudd, SH	1
Carré, IJ; Carson, NA	1
Barber, GW; Spaeth, GL	1
Harper, JR; Parkinson, MS	1
Araki, S; Cowen, D; Rowland, LP; Thompson, HL; White, HH	1
Dolman, CL; Dunn, HG; Perry, TL	1
Brenton, DP; Cusworth, DC	1

Reviews

9 review(s) available for homocystine and CBS Deficiency

Article	Year
Classical homocystinuria: vascular risk and its prevention. Journal of inherited metabolic disease, 2003, Volume: 26, Issue:2-3 Topics: Homocystine; Homocystinuria; Humans; Risk; Vascular Diseases	2003
Functional methionine synthase deficiency due to cblG disorder: a report of two patients and a review. American journal of medical genetics, 1997, Sep-05, Volume: 71, Issue:4 Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Anemia, Macrocytic; Anemia, Megaloblastic; Anorexia; Child, Preschool; Developmental Disabilities; Female; Fibroblasts; Genetic Complementation Test; Homocystine; Homocystinuria; Humans; Male; Methionine; Skin; Vitamin B 12	1997
Homocyst(e)ine, atherosclerosis, and thrombosis. Southern medical journal, 1999, Volume: 92, Issue:9 Topics: Adult; Aged; Arteriosclerosis; Female; Folic Acid; Homocysteine; Homocystine; Homocystinuria; Humans; Hyperhomocysteinemia; Male; Middle Aged; Thrombosis	1999
[Homocystinuria. Clinical review and report of a case]. Minerva pediatrica, 1976, Apr-07, Volume: 28, Issue:12-3 Topics: Amino Acids, Sulfur; Bone Diseases; Cystathionine beta-Synthase; Eye Diseases; Homocysteine; Homocystine; Homocystinuria; Humans; Intestinal Absorption; Methyltransferases; Nervous System Diseases; Skin Diseases; Tetrahydrofolate Dehydrogenase; Thrombosis; Vitamin B 12	1976
Homocystine, atherosclerosis and thrombosis: implications for oral contraceptive users. The American journal of clinical nutrition, 1975, Volume: 28, Issue:5 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Arteriosclerosis; Child; Contraceptives, Oral; Contraceptives, Oral, Hormonal; Embolism; Female; Glucose; Homocysteine; Homocystine; Homocystinuria; Humans; Hydro-Lyases; Hyperlipidemias; Methionine; Thrombosis	1975
[Homozygous and heterozygous homocystinuria. The risk factors of juvenile arteriosclerosis?]. Deutsche medizinische Wochenschrift (1946), 1992, Mar-20, Volume: 117, Issue:12 Topics: Arteriosclerosis; Heterozygote; Homocystine; Homocystinuria; Homozygote; Humans; Prevalence; Risk Factors; Vascular Diseases	1992
Detection of heterozygotes for recessive alleles. Homocyst(e)inemia: paradigm of pitfalls in phenotypes. American journal of medical genetics, 1990, Volume: 36, Issue:1 Topics: Alleles; Cystathionine beta-Synthase; Female; Genes, Recessive; Genetic Carrier Screening; Homocysteine; Homocystine; Homocystinuria; Humans; Male; Phenotype; Predictive Value of Tests	1990
Hyperhomocyst(e)inemia. A common and easily reversible risk factor for occlusive atherosclerosis. Circulation, 1990, Volume: 81, Issue:6 Topics: Arteriosclerosis; Homocysteine; Homocystine; Homocystinuria; Humans; Risk Factors	1990
[Hereditary anomalies of methionine metabolism in children]. Pediatriia, 1972, Volume: 51, Issue:4 Topics: Age Factors; Child; Flatfoot; Folic Acid; Homocysteine; Homocystine; Homocystinuria; Humans; Intellectual Disability; Kyphosis; Marfan Syndrome; Metabolism, Inborn Errors; Methionine; Scoliosis	1972

Trials

1 trial(s) available for homocystine and CBS Deficiency

Article	Year
The effect of oral betaine on vertebral body bone density in pyridoxine-non-responsive homocystinuria. Journal of inherited metabolic disease, 1988, Volume: 11, Issue:3 Topics: Adolescent; Adult; Amino Acids; Betaine; Child; Female; Homocystine; Homocystinuria; Humans; Male; Methionine; Minerals; Pyridoxine; Spine; Tomography, X-Ray Computed	1988

Other Studies

114 other study(ies) available for homocystine and CBS Deficiency

Article	Year
[Outcomes of patients with combined methylmalonic acidemia and homocystinuria after treatment]. Zhonghua er ke za zhi = Chinese journal of pediatrics, 2013, Volume: 51, Issue:3 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Betaine; Carnitine; Child; Child, Preschool; Female; Follow-Up Studies; Homocystine; Homocystinuria; Humans; Hydroxocobalamin; Infant; Infant, Newborn; Male; Methylmalonic Acid; Neonatal Screening; Treatment Outcome; Vitamin B 12; Vitamin B 12 Deficiency; Young Adult	2013
Vitamin C therapy ameliorates vascular endothelial dysfunction in treated patients with homocystinuria. Journal of inherited metabolic disease, 2002, Volume: 25, Issue:2 Topics: Adult; Ascorbic Acid; Blood Flow Velocity; Blood Pressure; Brachial Artery; Endothelium, Vascular; Female; Heart Rate; Homocystine; Homocystinuria; Humans; Male; Methionine; Nitric Oxide; Nitroglycerin; Tetrahydrofolates; Vasodilation	2002
Reproductive fitness in maternal homocystinuria due to cystathionine beta-synthase deficiency. Journal of inherited metabolic disease, 2002, Volume: 25, Issue:4 Topics: Adolescent; Adult; Amino Acids; Amino Acids, Sulfur; Child; Child, Preschool; Cystathionine beta-Synthase; Delivery, Obstetric; DNA Mutational Analysis; Drug Resistance; Female; Homocystine; Homocystinuria; Humans; Infant, Newborn; Nutritional Status; Pregnancy; Pregnancy Outcome; Pyridoxine; Reproduction	2002
HOMOCYSTINURIA: METABOLIC STUDIES ON 3 PATIENTS. The Journal of pediatrics, 1965, Volume: 67 Topics: Amino Acid Metabolism, Inborn Errors; Blood; Child; Genetics, Medical; Homocysteine; Homocystine; Homocystinuria; Humans; Intellectual Disability; Metabolism; Methionine; Neomycin; Urine	1965
Homocysteine, Marfan syndrome and arteriosclerosis. European heart journal, 2003, Volume: 24, Issue:22 Topics: Arteriosclerosis; Homocystine; Homocystinuria; Humans; Marfan Syndrome	2003
Ocular axial length in homocystinuria patients with and without ocular changes: effects of early treatment and biochemical control. Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus, 2004, Volume: 8, Issue:3 Topics: Adolescent; Adult; Astigmatism; Body Weights and Measures; Child; Cystathionine beta-Synthase; Diet, Protein-Restricted; Eye; Female; Homocystine; Homocystinuria; Humans; Lens Subluxation; Male; Myopia; Pyridoxine; Visual Acuity	2004
[Untreated homocystinuria in adulthood]. Deutsche medizinische Wochenschrift (1946), 2005, Oct-28, Volume: 130, Issue:43 Topics: Adult; Age Factors; Angina Pectoris; Betaine; Diagnosis, Differential; Drug Therapy, Combination; Folic Acid; Homocysteine; Homocystine; Homocystinuria; Humans; Intervertebral Disc Displacement; Lens Subluxation; Male; Marfan Syndrome; Myopia; Osteoporosis; Retinal Detachment; Vitamin B 12; Vitamin B 6; Vitamin B Complex	2005
The effect of in vitro homocystinuria on the suckling rat hippocampal acetylcholinesterase. Metabolic brain disease, 2006, Volume: 21, Issue:1 Topics: Acetylcholinesterase; Amino Acids, Sulfur; Animals; Animals, Suckling; Electrophorus; Enzyme Activation; Hippocampus; Homocysteine; Homocystine; Homocystinuria; In Vitro Techniques; Methionine; Oxidation-Reduction; Oxidative Stress; Rats; Rats, Wistar	2006
Recurrent dystonia in homocystinuria: a metabolic pathogenesis. Movement disorders : official journal of the Movement Disorder Society, 2006, Volume: 21, Issue:10 Topics: Adult; Brain; Dystonia; Folic Acid Deficiency; Homocystine; Homocystinuria; Humans; Male; Methionine; Recurrence; Torticollis	2006
[Homocystinuria]. Helvetica paediatrica acta, 1966, Volume: 21, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Diet Therapy; Homocystine; Homocystinuria; Humans; Methionine	1966
Roentgen findings in homocystinuria. The American journal of roentgenology, radium therapy, and nuclear medicine, 1967, Volume: 100, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Child; Female; Homocystine; Homocystinuria; Humans; Intellectual Disability; Male; Marfan Syndrome; Osteoporosis; Radiography; Spinal Diseases; Thoracic Diseases	1967
Sulfur-containing amino acids in the plasma and urine of homocystinurics. Clinica chimica acta; international journal of clinical chemistry, 1967, Volume: 15, Issue:3 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Child, Preschool; Chromatography, Paper; Homocysteine; Homocystine; Homocystinuria; Humans; Infant; Infant, Newborn; Intellectual Disability; Iodoacetates; Methionine; Sulfoxides; Sulfur; Ultraviolet Rays	1967
A simple thin-layer-chromatographic method for detection of urinary homocystine. The Tohoku journal of experimental medicine, 1967, Volume: 91, Issue:1 Topics: Amino Acids; Chromatography, Thin Layer; Cystinuria; Homocystine; Homocystinuria; Humans; Methionine	1967
Diagnosis of homocystinuria by gas chromatography. Analytical biochemistry, 1967, Volume: 19, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Chromatography, Gas; Chromatography, Ion Exchange; Fluoroacetates; Homocystine; Homocystinuria; Humans; Intellectual Disability; Marfan Syndrome; Quaternary Ammonium Compounds	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
Endothelial cell dysfunction in homocystinuria. European journal of clinical investigation, 1983, Volume: 13, Issue:5 Topics: Cells, Cultured; Chromium Radioisotopes; Endothelium; Heterozygote; Homocysteine; Homocystine; Homocystinuria; Humans; Infant, Newborn; Male; Methionine; Platelet Aggregation; Umbilical Cord	1983
[Electrophoretic and electrophoretic-chromatographic pictures in homocystinuria]. Minerva pediatrica, 1984, Sep-30, Volume: 36, Issue:18 Topics: Child; Child, Preschool; Chromatography, Paper; Chromatography, Thin Layer; Electrophoresis; Female; Homocystine; Homocystinuria; Humans; Male	1984
Environmental validation of the homocystine theory of arteriosclerosis. Medical hypotheses, 1984, Volume: 15, Issue:4 Topics: Adult; Air Pollutants; Animals; Arteriosclerosis; Carbon Disulfide; Carbon Monoxide; Child; Heterozygote; Homocystine; Homocystinuria; Humans; Middle Aged; Rabbits; Risk; Vitamin B 6 Deficiency	1984
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
Vascular lesions in two patients with congenital homocystinuria due to different defects of remethylation. Journal of inherited metabolic disease, 1980, Volume: 3, Issue:3 Topics: Arteries; Homocystine; Homocystinuria; Humans; Infant; Kidney; Liver; Lung; Male	1980
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
Experimental homocysteinemia in pigs: comparison with studies in sixteen homocystinuric patients. Metabolism: clinical and experimental, 1982, Volume: 31, Issue:8 Topics: Adolescent; Adult; Amino Acids; Aminobutyrates; Animals; Child; Child, Preschool; Dipeptides; Disease Models, Animal; Homocysteine; Homocystine; Homocystinuria; Humans; Kinetics; Methionine; Middle Aged; Swine; Taurine	1982
The effect of D-penicillamine on protein-bound homocyst(e)ine in homocystinurics. Pediatric research, 1982, Volume: 16, Issue:5 Topics: Adolescent; Adult; Blood Proteins; Female; Homocysteine; Homocystine; Homocystinuria; Humans; Male; Penicillamine; Protein Binding; Pyridoxine	1982
Kinetics and distribution of 111Indium-labeled platelets in patients with homocystinuria. The New England journal of medicine, 1982, Sep-23, Volume: 307, Issue:13 Topics: Adolescent; Adult; Blood Platelets; Homocystine; Homocystinuria; Humans; Indium; Kinetics; Middle Aged; Pyridoxine; Radioisotopes; Thromboembolism	1982
The use of betaine for the treatment of homocystinuria. The Journal of pediatrics, 1981, Volume: 99, Issue:3 Topics: Administration, Oral; Adult; Betaine; Child; Female; Folic Acid; Homocystine; Homocystinuria; Humans; Male; Methionine; Pyridoxine	1981
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
Intermittent encephalopathy, reversible nerve conduction slowing, and MRI evidence of cerebral white matter disease in methylenetetrahydrofolate reductase deficiency. Neurology, 1994, Volume: 44, Issue:2 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Brain; Brain Diseases, Metabolic; Female; Homocystine; Homocystinuria; Humans; Magnetic Resonance Imaging; Methylenetetrahydrofolate Reductase (NADPH2); Neural Conduction; Oxidoreductases Acting on CH-NH Group Donors	1994
[An adult case of homocystinuria probably due to methylenetetrahydrofolate-reductase deficiency--treatment with folic acid and the course of coagulation-fibrinolysis parameters]. Rinsho shinkeigaku = Clinical neurology, 1996, Volume: 36, Issue:2 Topics: Adult; Antithrombin III; Blood Coagulation; Fibrin Fibrinogen Degradation Products; Folic Acid; Homocystine; Homocystinuria; Humans; Male; Methylenetetrahydrofolate Reductase (NADPH2); Oxidoreductases Acting on CH-NH Group Donors; Paraplegia; Peptide Hydrolases	1996
Delay in diagnosis of homocystinuria. Total rather than free homocysteine is better for screening. BMJ (Clinical research ed.), 1997, Feb-01, Volume: 314, Issue:7077 Topics: Homocystine; Homocystinuria; Humans; Infant, Newborn; Neonatal Screening	1997
Newborn screening for homocystinuria. Early human development, 1997, Apr-25, Volume: 48, Issue:1-2 Topics: Homocystine; Homocystinuria; Humans; Infant, Newborn; Methionine; Neonatal Screening; Pyridoxine; Reference Values	1997
Spontaneous pneumothorax in association with pyridoxine-responsive homocystinuria. Journal of inherited metabolic disease, 1997, Volume: 20, Issue:6 Topics: Adolescent; Homocystine; Homocystinuria; Humans; Male; Marfan Syndrome; Methionine; Pneumothorax; Pyridoxine	1997
Biochemical and clinical response to hydroxocobalamin versus cyanocobalamin treatment in patients with methylmalonic acidemia and homocystinuria (cblC). The Journal of pediatrics, 1998, Volume: 132, Issue:1 Topics: Child; Child, Preschool; Female; Growth; Homocystine; Homocystinuria; Humans; Hydroxocobalamin; Infant; Male; Metabolism, Inborn Errors; Methylmalonic Acid; Vitamin B 12	1998
Inadequate laboratory technique for amino acid analysis resulting in missed diagnoses of homocystinuria. Clinical chemistry, 1998, Volume: 44, Issue:4 Topics: Amino Acids, Sulfur; Disulfides; False Negative Reactions; Homocystine; Homocystinuria; Humans; Infant, Newborn; Time Factors	1998
Post- and prenatal diagnostic methods for the homocystinurias. European journal of pediatrics, 1998, Volume: 157 Suppl 2 Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Amniotic Fluid; Chromatography; Cystathionine beta-Synthase; DNA Mutational Analysis; Female; Homocystine; Homocystinuria; Humans; Infant, Newborn; Methionine; Methylenetetrahydrofolate Reductase (NADPH2); Oxidoreductases Acting on CH-NH Group Donors; Pregnancy; Prenatal Diagnosis	1998
Optic atrophy in association with cobalamin C (cblC) disease. Ophthalmic genetics, 2000, Volume: 21, Issue:3 Topics: Age of Onset; Child, Preschool; Consanguinity; Female; Follow-Up Studies; Homocystine; Homocystinuria; Humans; Metabolism, Inborn Errors; Methylmalonic Acid; Optic Atrophy; Vitamin B 12	2000
Homocystinuria with congenital/developmental cataract. Indian journal of pediatrics, 2000, Volume: 67, Issue:10 Topics: Adult; Cataract; Child; Chromatography, Paper; Female; Homocystine; Homocystinuria; Humans; Male; Mass Screening; Metabolism, Inborn Errors; Methionine; Pyridoxine	2000
Influence of metabolic control on growth in homocystinuria due to cystathionine B-synthase deficiency. Pediatric research, 2001, Volume: 49, Issue:6 Topics: Adolescent; Body Height; Child; Female; Growth; Growth Substances; Homocysteine; Homocystine; Homocystinuria; Humans; Male; Retrospective Studies	2001
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
Early-onset cobalamin C/D deficiency: epilepsy and electroencephalographic features. Epilepsia, 2002, Volume: 43, Issue:6 Topics: Age of Onset; Brain; Electroencephalography; Epilepsy; Female; Follow-Up Studies; Homocysteine; Homocystine; Homocystinuria; Humans; Infant; Infant, Newborn; Magnetic Resonance Imaging; Male; Methylmalonic Acid; Sleep; Vitamin B 12; Vitamin B 12 Deficiency; Wakefulness	2002
Effect of induced elevated plasma levels of homocystine and methionine in rats on collagen and elastin structures. Connective tissue research, 1976, Volume: 4, Issue:2 Topics: Animals; Collagen; Connective Tissue; Disease Models, Animal; Elastin; Female; Homocystine; Homocystinuria; Humans; Male; Methionine; Peptides; Rats; Solubility	1976
[Diagnosis and therapy of 6 hereditary, to mental-deficiency-leading, metabolic disorders. 2]. Medizinische Klinik, 1976, Apr-30, Volume: 71, Issue:18 Topics: Acute Disease; Diagnosis, Differential; Galactose; Galactosemias; Germany, West; Histidine; Homocystine; Homocystinuria; Humans; Infant, Newborn; Infant, Newborn, Diseases; Intellectual Disability; Maple Syrup Urine Disease; Mass Screening; Metabolism, Inborn Errors; Methionine; Phosphotransferases	1976
[Laboratory diagnosis of anomalies of vitamin metabolism]. Nihon rinsho. Japanese journal of clinical medicine, 1979, Jun-29, Volume: Suppl Topics: Homocystine; Homocystinuria; Humans; Methods	1979
Protein-bound homocyst(e)ine in normal subjects and in patients with homocystinuria. Pediatric research, 1979, Volume: 13, Issue:10 Topics: Brain; Cystathionine beta-Synthase; Heterozygote; Homocystine; Homocystinuria; Humans; Kidney; Liver; Protein Binding	1979
Experimental homocystinemia, endothelial lesions and thrombosis. Blood vessels, 1979, Volume: 16, Issue:4 Topics: Animals; Arteries; Arteriosclerosis; Blood Cell Count; Blood Platelets; Capillary Permeability; Cell Count; Disease Models, Animal; Endarteritis; Endothelium; Female; Homocystine; Homocystinuria; Humans; Injections, Intravenous; Rats; Thrombosis	1979
Platelets in homocystinuria. The New England journal of medicine, 1977, Apr-07, Volume: 296, Issue:14 Topics: Adult; Blood Platelets; Cell Survival; Child; Female; Homocystine; Homocystinuria; Humans; Male; Time Factors	1977
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
Platelet survival in homocystinuria. The New England journal of medicine, 1976, Nov-18, Volume: 295, Issue:21 Topics: Blood Platelets; Cell Survival; Homocystine; Homocystinuria; Humans	1976
Platelet survival and morphology in homocystinuria due to cystathionine synthase deficiency. The New England journal of medicine, 1976, Dec-02, Volume: 295, Issue:23 Topics: Adult; Blood Cell Count; Blood Platelets; Cell Survival; Child; Cystathionine beta-Synthase; Female; Heterozygote; Homocystine; Homocystinuria; Humans; Hydro-Lyases; Male; Thromboembolism	1976
Homocystinuria-a case report. The Medical journal of Malaysia, 1976, Volume: 30, Issue:3 Topics: Child; Chromatography; Electrophoresis; Homocystine; Homocystinuria; Humans; Male; Marfan Syndrome	1976
Folate-responsive homocystinuria and "schizophrenia". A defect in methylation due to deficient 5,10-methylenetetrahydrofolate reductase activity. The New England journal of medicine, 1975, Mar-06, Volume: 292, Issue:10 Topics: Adolescent; Alcohol Oxidoreductases; Diagnosis, Differential; Female; Folic Acid; Homocysteine; Homocystine; Homocystinuria; Humans; Methionine; Methylation; Schizophrenia; Tetrahydrofolates; Vitamin B 12	1975
Editorial: Metabolic hypotheses in schizophrenia. The New England journal of medicine, 1975, Mar-06, Volume: 292, Issue:10 Topics: Folic Acid; Homocystine; Homocystinuria; Humans; Methionine; Methylation; Psychotic Disorders; Schizophrenia	1975
Amino acids and collagen-induced platelet aggregation. Lack of effect of three amino acids that are elevated in homocystinuria. American journal of diseases of children (1960), 1975, Volume: 129, Issue:9 Topics: Collagen; Female; Homocysteine; Homocystine; Homocystinuria; Humans; Male; Methionine; Platelet Aggregation; Thrombosis	1975
Homocystinuria presenting as sagittal sinus thrombosis. European neurology, 1992, Volume: 32, Issue:1 Topics: Adolescent; Brain; Cystathionine beta-Synthase; Homocystine; Homocystinuria; Humans; Magnetic Resonance Imaging; Male; Methionine; Neurologic Examination; Sinus Thrombosis, Intracranial; Tomography, X-Ray Computed	1992
Functional and morphological deficits in late-treated patients with homocystinuria: a clinical, electrophysiologic and MRI study. Acta neurologica Scandinavica, 1991, Volume: 83, Issue:3 Topics: Adolescent; Adult; Brain Damage, Chronic; Brain Ischemia; Brain Stem; Cerebral Cortex; Child; Electroencephalography; Evoked Potentials, Auditory, Brain Stem; Evoked Potentials, Somatosensory; Female; Homocystine; Homocystinuria; Humans; Magnetic Resonance Imaging; Male; Motor Neurons; Muscles; Peripheral Nerves; Spinal Cord; Synaptic Transmission	1991
Delayed diagnosis of homocystinuria in a myopic. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie, 1991, Volume: 229, Issue:1 Topics: Adult; Folic Acid; Homocystine; Homocystinuria; Humans; Male; Myopia; Pyridoxine	1991
Betaine for treatment of homocystinuria caused by methylenetetrahydrofolate reductase deficiency. Archives of disease in childhood, 1989, Volume: 64, Issue:7 Topics: 5,10-Methylenetetrahydrofolate Reductase (FADH2); Betaine; Female; Homocystine; Homocystinuria; Humans; Infant, Newborn; Methionine; Methylenetetrahydrofolate Reductase (NADPH2); Oxidoreductases	1989
Determination of homocysteine, penicillamine, and their symmetrical and mixed disulfides by liquid chromatography with electrochemical detection. Analytical biochemistry, 1989, Aug-01, Volume: 180, Issue:2 Topics: Chromatography, High Pressure Liquid; Disulfides; Electrochemistry; Electrodes; Homocysteine; Homocystine; Homocystinuria; Humans; Oxidation-Reduction; Penicillamine	1989
Heterozygosity for homocystinuria in premature arterial disease. The New England journal of medicine, 1986, Mar-27, Volume: 314, Issue:13 Topics: Adult; Arterial Occlusive Diseases; Female; Heterozygote; Homocystine; Homocystinuria; Humans; Male; Menopause; Methionine; Middle Aged	1986
Pyridoxine treatment in homocystinuria. Lancet (London, England), 1967, Nov-25, Volume: 2, Issue:7526 Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Diet Therapy; Dietary Proteins; Female; Homocystine; Homocystinuria; Humans; Male; Methionine; Pyridoxine	1967
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
Inhibition of renal tubular reabsorption of homocystine by lysine and arginine. Lancet (London, England), 1968, Oct-26, Volume: 2, Issue:7574 Topics: Adolescent; Aminobutyrates; Animals; Arginine; Female; Homocystine; Homocystinuria; Humans; Kidney Tubules; Lysine; Rats	1968
Homocystinuria or Marfan's syndrome? Lancet (London, England), 1969, Apr-19, Volume: 1, Issue:7599 Topics: Adult; Diagnosis, Differential; Female; Homocystine; Homocystinuria; Humans; Marfan Syndrome	1969
Editorial: Optimism in the control of atherosclerosis. The New England journal of medicine, 1974, Sep-12, Volume: 291, Issue:11 Topics: Animals; Arteriosclerosis; Blood Platelets; Blood Vessels; Haplorhini; Homocystine; Homocystinuria; Humans; Muscle, Smooth; Physical Stimulation; Rabbits; Thrombosis	1974
Homocystinemia. Vascular injury and arterial thrombosis. The New England journal of medicine, 1974, Sep-12, Volume: 291, Issue:11 Topics: Adolescent; Adult; Animals; Blood Cell Count; Blood Coagulation; Blood Platelets; Blood Vessels; Dipyridamole; Disease Models, Animal; Endothelium; Female; Fibrinogen; Fibrinolysis; Haplorhini; Homocystine; Homocystinuria; Humans; Male; Papio; Plasminogen; Platelet Adhesiveness; Pyridoxine; Thrombosis	1974
Effect of pyridoxine treatment of a homocystinuric patient on the urinary excretion of some sulfur-containing amino acids. Acta medica Okayama, 1974, Volume: 28, Issue:4 Topics: Alanine; Amino Acids, Sulfur; Cystinuria; Disulfides; Homocysteine; Homocystine; Homocystinuria; Humans; Methionine; Pyridoxine	1974
Adult homocystinuria with ectopia lentis. Southern medical journal, 1971, Volume: 64, Issue:5 Topics: Adult; Aged; Amino Acids; Blood Platelets; Cell Aggregation; Chromatography, Ion Exchange; Eye Diseases; Female; Homocystine; Homocystinuria; Humans; Intelligence Tests; Lens, Crystalline; Male; Methionine; Middle Aged; MMPI; Pedigree; Visual Acuity	1971
The effect of pyridoxine on platelet adhesiveness in homocystinuria. Neuropadiatrie, 1974, Volume: 5, Issue:4 Topics: Adolescent; Adult; Child; Female; Homocystine; Homocystinuria; Humans; Male; Methionine; Platelet Adhesiveness; Pyridoxine	1974
Variability of the urinary excretion of homocystine and inorganic sulfate in a patient with homocystinuria. The Johns Hopkins medical journal, 1972, Volume: 131, Issue:6 Topics: Child; Diet; Diet Therapy; Homocystine; Homocystinuria; Humans; Pyridoxine; Sulfates	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
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
Effects of alpha-aminoisobutyric acid on urinary excretion of homocystine in patients with homocystinuria. Metabolism: clinical and experimental, 1973, Volume: 22, Issue:4 Topics: Adult; Aminoisobutyric Acids; Female; Homocystine; Homocystinuria; Humans; Kidney; Kidney Concentrating Ability; L-Serine Dehydratase	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
Homocystinuria: studies in tissue culture. Pediatric research, 1973, Volume: 7, Issue:7 Topics: Culture Techniques; Fibroblasts; Heterozygote; Homocysteine; Homocystine; Homocystinuria; Humans; Hydro-Lyases; L-Serine Dehydratase; Methionine; Methyltransferases; Oxidoreductases; Parents; Proteins; Pyridoxal Phosphate; Pyridoxine; Serine; Skin; Stimulation, Chemical; Tetrahydrofolates	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
A collagen defect in homocystinuria. The Journal of clinical investigation, 1973, Volume: 52, Issue:10 Topics: Adult; Aldehydes; Amino Acids; Biopsy; Borohydrides; Child; Collagen; Dialysis; Histidine; Homocysteine; Homocystine; Homocystinuria; Humans; Hydrolysis; Hydroxylysine; Methionine; Microscopy, Electron; Norleucine; Skin; Sodium; Solubility; Temperature; Time Factors; Tritium	1973
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
The role of homocystinuria in the etiopathogenesis of children's mental deficiency. Acta Universitatis Carolinae. Medica. Monographia, 1973, Volume: 56 Topics: Adolescent; Age Factors; Amino Acids; Child, Preschool; False Positive Reactions; Homocystine; Homocystinuria; Humans; Intellectual Disability; Methionine; Methods; Vision Disorders	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
[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
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
[A case of homocystinuria]. Ugeskrift for laeger, 1972, Mar-06, Volume: 134, Issue:10 Topics: Adult; Chromatography, Paper; Chromatography, Thin Layer; Female; Homocystine; Homocystinuria; Humans; Methionine	1972
Specific spot test for homocystinuria in filter paper saturated with urine. Clinica chimica acta; international journal of clinical chemistry, 1972, Volume: 39, Issue:1 Topics: Aminobutyrates; Cyanides; Ferricyanides; Homocystine; Homocystinuria; Humans; Infant, Newborn; Mass Screening; Methods; Silver Nitrate	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
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
Excretion of S-adenosylmethionine and S-adenosylhomocysteine in homocystinuria. The New England journal of medicine, 1971, 11-25, Volume: 285, Issue:22 Topics: Homocysteine; Homocystine; Homocystinuria; Humans; Methionine; Nucleosides	1971
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
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
Homocystinuria: the significance of its successful treatment. Transactions of the ophthalmological societies of the United Kingdom, 1969, Volume: 88 Topics: Adolescent; Adult; Amino Acids; Child; Child, Preschool; Diet Therapy; Erythrocytes; Female; Hair; Heterozygote; Homocystine; Homocystinuria; Humans; Male; Platelet Adhesiveness; Pyridoxine	1969
Aminoaciduria in a homocystinuric family. Clinica chimica acta; international journal of clinical chemistry, 1969, Volume: 26, Issue:3 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Aminobutyrates; Cystinuria; Female; Heterozygote; Homocystine; Homocystinuria; Humans; Male; Methionine; Sulfoxides	1969
[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
A simpe, safe nitroprusside test using Ketostix reagent strips for detecting cystine and homocystine in urine. Journal of clinical pathology, 1970, Volume: 23, Issue:1 Topics: Adult; Aminobutyrates; Child; Cystinuria; Ferricyanides; Homocystine; Homocystinuria; Humans	1970
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
Homocystinuria. Response to pyridoxine. Neurology, 1970, Volume: 20, Issue:5 Topics: Adolescent; Child; Child, Preschool; Chromatography, Ion Exchange; Electroencephalography; Female; Homocystine; Homocystinuria; Humans; L-Serine Dehydratase; Male; Methionine; Psychological Tests; Pyridoxine	1970
[Abortive form of homocystinuria]. Wiener klinische Wochenschrift, 1970, Oct-18, Volume: 82, Issue:42 Topics: Adolescent; Child, Preschool; Chromatography; Chromatography, Paper; Diagnosis, Differential; Eye Diseases; Female; Follow-Up Studies; Homocystine; Homocystinuria; Humans; Intellectual Disability; Marfan Syndrome; Methionine; Myopia; Vitreous Body	1970
Pyridoxine-unresponsive homocystinuria. The New England journal of medicine, 1970, Nov-26, Volume: 283, Issue:22 Topics: Adult; Autopsy; Carotid Arteries; Child; Child, Preschool; Homocystine; Homocystinuria; Humans; L-Serine Dehydratase; Male; Methionine; Pedigree; Pyridoxine	1970
[Experiences with a new amino acid analyzer for a rapid analysis]. Monatsschrift fur Kinderheilkunde, 1970, Volume: 118, Issue:6 Topics: Amino Acids; Autoanalysis; Homocystine; Homocystinuria; Humans; Infant, Newborn; Infant, Premature, Diseases; Isoleucine; Leucine; Maple Syrup Urine Disease; Metabolic Diseases; Methionine; Phenylalanine; Phenylketonurias; Tyrosine; Valine	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
Management of patients with homocystinuria requiring surgery under general anaesthesia. A case report. British journal of anaesthesia, 1971, Volume: 43, Issue:1 Topics: Anesthesia, Dental; Anesthesia, General; Child; Dental Restoration, Permanent; Homocystine; Homocystinuria; Humans; Male; Platelet Adhesiveness; Preoperative Care; Pyridoxine; Tooth Extraction	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
[Determination of free amino acids in aqueous humor of homocystinuria patients and in control subjects]. Clinica chimica acta; international journal of clinical chemistry, 1968, Volume: 19, Issue:3 Topics: Aged; Amino Acid Metabolism, Inborn Errors; Amino Acids; Aqueous Humor; Autoanalysis; Child; Homocystine; Homocystinuria; Humans; Intellectual Disability; Marfan Syndrome; Methionine; Middle Aged	1968
Cystathionine synthase in tissue culture derived from human skin: enzyme defect in homocystinuria. Science (New York, N.Y.), 1968, May-31, Volume: 160, Issue:3831 Topics: Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Culture Techniques; Fibroblasts; Homocystine; Homocystinuria; Humans; Hydro-Lyases; Intellectual Disability; Methionine; Skin; Transferases	1968
Homocystinuria. II. Subnormal serum folate levels, increased folate clearance and effects of folic acid therapy. The American journal of medicine, 1968, Volume: 45, Issue:1 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Female; FIGLU Test; Folic Acid; Homocystine; Homocystinuria; Humans; Intelligence; Male; Methionine; Nitrogen; Vitamin B 12	1968
Some aspects of the diagnosis and treatment of homocystinuria. Developmental medicine and child neurology, 1968, Volume: 10, Issue:4 Topics: Child; Child, Preschool; Diet Therapy; Female; Homocystine; Homocystinuria; Humans; Male; Methionine	1968
Activation of Hageman factor by L-homocystine. Science (New York, N.Y.), 1968, Nov-29, Volume: 162, Issue:3857 Topics: Adsorption; Aminobutyrates; Blood Coagulation; Bradykinin; Chemical Phenomena; Chemistry; Factor XI; Factor XII; Female; Homocystine; Homocystinuria; Humans; Muscle Contraction; Muscle, Smooth; Stereoisomerism; Thrombosis; Uterus	1968
A derangement in B 12 metabolism leading to homocystinemia, cystathioninemia and methylmalonic aciduria. Biochemical and biophysical research communications, 1969, Apr-10, Volume: 35, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Aminobutyrates; Brain; Homocysteine; Homocystine; Homocystinuria; Humans; Infant; Kidney; Liver; Male; Malonates; Metabolism, Inborn Errors; Methionine; Sulfides; Transferases; Vitamin B 12	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
The successful treatment of homocystinuria with pyridoxine. The Journal of pediatrics, 1969, Volume: 75, Issue:3 Topics: Adolescent; Adult; Amino Acids; Blood Platelets; Child; Child, Preschool; Erythrocytes; Female; Hair; Homocystine; Homocystinuria; Humans; Male; Methionine; Pyridoxine; Urine	1969
Therapeutic problems of adolescent homocystinuria. Proceedings of the Royal Society of Medicine, 1969, Volume: 62, Issue:9 Topics: Child; Diet Therapy; Homocystine; Homocystinuria; Humans; Intellectual Disability; Male; Methionine; Thromboembolism	1969
Homocystinuria due to cystathionine synthase deficiency. Annals of internal medicine, 1965, Volume: 63, Issue:6 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Female; Homocysteine; Homocystine; Homocystinuria; Humans; Hydro-Lyases; In Vitro Techniques; Intellectual Disability; Liver; Methionine	1965
Homocystinuria. Archives of neurology, 1965, Volume: 13, Issue:5 Topics: Amino Acid Metabolism, Inborn Errors; Brain; Child; Child, Preschool; Female; Homocysteine; Homocystine; Homocystinuria; Humans; Hydro-Lyases; In Vitro Techniques; Intellectual Disability; Intracranial Embolism and Thrombosis; Lens, Crystalline; Male; Methionine; Seizures	1965
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
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