pyridoxine has been researched along with CBS Deficiency in 184 studies
4,5-bis(hydroxymethyl)-2-methylpyridin-3-ol: structure in first source
vitamin B6 : Any member of the group of pyridines that exhibit biological activity against vitamin B6 deficiency. Vitamin B6 deficiency is associated with microcytic anemia, electroencephalographic abnormalities, dermatitis with cheilosis (scaling on the lips and cracks at the corners of the mouth) and glossitis (swollen tongue), depression and confusion, and weakened immune function. Vitamin B6 consists of the vitamers pyridoxine, pyridoxal, and pyridoxamine and their respective 5'-phosphate esters (and includes their corresponding ionized and salt forms).
| Excerpt | Relevance | Reference |
|---|---|---|
| "Homocystinuria (HCU) due to cystathionine beta-synthase (CBS) deficiency leads to severe hyperhomocysteinemia (HHcy)." | 8.80 | Vascular complications of severe hyperhomocysteinemia in patients with homocystinuria due to cystathionine beta-synthase deficiency: effects of homocysteine-lowering therapy. ( Boers, GH; Naughten, ER; Wilcken, B; Wilcken, DE; Yap, S, 2000) |
| "Within Europe, the management of pyridoxine (B6) non-responsive homocystinuria (HCU) may vary but there is limited knowledge about treatment practice." | 7.79 | Dietary practices in pyridoxine non-responsive homocystinuria: a European survey. ( Adam, S; Almeida, MF; Carbasius Weber, E; Champion, H; Chan, H; Daly, A; Dixon, M; Dokoupil, K; Egli, D; Evans, S; Eyskens, F; Faria, A; Ferguson, C; Hallam, P; Heddrich-Ellerbrok, M; Jacobs, J; Jankowski, C; Lachmann, R; Lilje, R; Link, R; Lowry, S; Luyten, K; MacDonald, A; Maritz, C; Martins, E; Meyer, U; Müller, E; Murphy, E; Robertson, LV; Rocha, JC; Saruggia, I; Schick, P; Stafford, J; Stoelen, L; Terry, A; Thom, R; van den Hurk, T; van Rijn, M; van Teefelen-Heithoff, A; Webster, D; White, FJ; Wildgoose, J; Zweers, H, 2013) |
| "To investigate the pharmacokinetics (PK) and pharmacodynamics (PD) of betaine in the treatment of classical homocystinuria due to cystathionine beta-synthase (CbetaS) deficiency with a view to optimizing the dosage regimen." | 7.71 | An indirect response model of homocysteine suppression by betaine: optimising the dosage regimen of betaine in homocystinuria. ( Bonham, JR; Chakrapani, A; Johnson, TN; Matthews, A; Moat, SJ; Rostami-Hodjegan, A; Tucker, GT; Wraith, JE, 2002) |
| "We determined the molecular basis of cystathionine beta-synthase (CBS) deficiency in a partially pyridoxine-responsive homocystinuria patient." | 7.69 | Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient. ( Blom, HJ; Boers, GH; Kluijtmans, LA; Kraus, JP; Renier, WO; Stevens, EM; Trijbels, FJ; van den Heuvel, LP, 1996) |
| " About half of all patients diagnosed with CBS deficiency respond to pyridoxine treatment with a significant lowering of tHcy levels." | 7.69 | Functional modeling of vitamin responsiveness in yeast: a common pyridoxine-responsive cystathionine beta-synthase mutation in homocystinuria. ( Folling, I; Gallagher, PM; Guttormsen, AB; Kim, CE; Kruger, WD; Ose, L; Refsum, H; Tsai, MY; Ueland, PM; Whitehead, AS, 1997) |
| "We present the results achieved with vitamin (pyridoxine and folic acid) and betaine (trimethyl-glycine) treatment of three patients with homocystinuria." | 7.68 | [Homocystinuria: effectiveness of the treatment with pyridoxine, folic acid, and betaine]. ( Cabello Tomás, ML; Dalmau Serra, J; García Gómez, AM; Montero Brens, C; Rodes Monegal, M; Vilaseca Busca, A, 1993) |
| " All patients have pyridoxine nonresponsive homocystinuria." | 7.68 | Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria. ( Gu, Z; Hu, FL; Kozich, V; Kraus, JP; Ramesh, V; Shih, VE, 1993) |
| "Homocystinuria due to cystathionine beta-synthase deficiency may be responsive to pyridoxine, a precursor of the cofactor pyridoxal phosphate, and the amount of residual enzyme activity present is the probable determinant of this." | 7.67 | Homocystinuria due to cystathionine beta-synthase deficiency--the effects of betaine treatment in pyridoxine-responsive patients. ( Dudman, NP; Tyrrell, PA; Wilcken, DE, 1985) |
| "Fasting homocystinemia in homocystinuria due to cystathionine synthase deficiency reportedly disappears on high-dose pyridoxine treatment." | 7.66 | Pyridoxine treatment does not prevent homocystinemia after methionine loading in adult homocystinuria patients. ( Boers, GH; Drayer, JI; Kloppenborg, PW; Leermakers, AI; Smals, AG; Trijbels, FJ, 1983) |
| "The treatment of homocystinuria that is not responsive to pyridoxine is not usually biochemically or clinically successful, and vascular, ocular, and skeletal complications commonly supervene." | 7.66 | Homocystinuria--the effects of betaine in the treatment of patients not responsive to pyridoxine. ( Dudman, NP; Tyrrell, PA; Wilcken, B; Wilcken, DE, 1983) |
| "The metabolic response of patients with homocystinuria due to cystabhionine synthase deficiency to oral loads of homocysteine indicates: that even severely affected patients with homocystinuria have pools of cystine in their tissues; that control of sulfur amino acid metabolism favors increased concentrations of methionine rather than homocystine in the plasma; and that even patients who apparently are not B-6-responsive respond differently to the loads of homocysteine when challenged during B-6-treatment compared with their response before B-6 treatment." | 7.65 | Homocysteine and cysteine loads in patients with homocystinuria due to cystathionine synthase deficiency: effects of vitamin B-6. ( Gaull, GE; Longhi, RC; Rassin, DK; Sternowsky, HJ; Sturman, JA, 1977) |
| "We investigated the effect of pyridoxine administration in three patients with homocystinuria due to cystathionine synthase deficiency." | 7.65 | Homocystinuria due to cystathionine synthase deficiency: the effect of pyridoxine. ( Brown, MS; Edwards, WA; Laster, L; Loeb, PM; Mudd, SH, 1970) |
| "Pyridoxine, vitamin B6, is a cofactor for cystathionine beta synthase, which mediates the transformation of homocysteine to cystathionine, the initial step in the transsulfuration pathway and the urinary excretion of sulfur." | 6.40 | B vitamins and homocysteine in cardiovascular disease and aging. ( Wilcken, B; Wilcken, DE, 1998) |
| " Pyridoxine dosage was reduced to 500 mg/day, resulting in the disappearance of sensory symptoms and ataxia, and the normalisation of sensory nerve potentials." | 5.48 | Regressive pyridoxine-induced sensory neuronopathy in a patient with homocystinuria. ( Chanson, JB; Echaniz-Laguna, A; Mourot-Cottet, R; Noel, E, 2018) |
| "The pathological sequelae of untreated homocystinuria due to cystathionine beta-synthase deficiency include ectopia lentis, osteoporosis, thromboembolic events and mental retardation." | 5.31 | The intellectual abilities of early-treated individuals with pyridoxine-nonresponsive homocystinuria due to cystathionine beta-synthase deficiency. ( Howard, PM; Naughten, ER; Rushe, H; Yap, S, 2001) |
| "Homocystinuria is an inborn error of metabolism involving a high incidence of thromboembolism." | 5.26 | Kinetics and distribution of 111Indium-labeled platelets in patients with homocystinuria. ( 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, 1982) |
| " It is the most common inborn error of sulfur metabolism and is the cause of classical homocystinuria, a condition characterized by very high levels of plasma total homocysteine and methionine." | 4.95 | Cystathionine β-synthase deficiency: Of mice and men. ( Kruger, WD, 2017) |
| "Homocystinuria (HCU) due to cystathionine beta-synthase (CBS) deficiency leads to severe hyperhomocysteinemia (HHcy)." | 4.80 | Vascular complications of severe hyperhomocysteinemia in patients with homocystinuria due to cystathionine beta-synthase deficiency: effects of homocysteine-lowering therapy. ( Boers, GH; Naughten, ER; Wilcken, B; Wilcken, DE; Yap, S, 2000) |
| "Homocysteine is increasingly recognized as a risk factor for coronary artery disease." | 4.79 | Homocysteine and coronary atherosclerosis. ( Jacobsen, DW; Mayer, EL; Robinson, K, 1996) |
| " Studies of patients with three types of homocystinuria have demonstrated unequivocally the major role of cystathionine formation in degradation of homocysteine, and the importance of homocysteine remethylation." | 4.76 | Diseases of sulphur metabolism: implications for the methionine-homocysteine cycle, and vitamin responsiveness. ( Mudd, SH, 1979) |
| "Classic homocystinuria is due to deficiency of cystathionine beta-synthase (CBS), a pyridoxine-dependent enzyme that, depending on the molecular variants, may be co-factor responsive." | 3.96 | A cautionary tale of pyridoxine toxicity in cystathionine beta-synthase deficiency detected by two-tier newborn screening highlights the need for clear pyridoxine dosing guidelines. ( Ahmad, A; Ames, EG; Conway, RL; Moloney, SM; Pappas, KB; Scott, AJ, 2020) |
| "Classical homocystinuria, also known as cystathionine beta synthase deficiency, is a rare disorder of methionine metabolism, leading to an abnormal accumulation of homocysteine and its metabolites in blood and urine." | 3.88 | Classical Homocystinuria in a Juvenile Patient. ( Asif, N; Awan, A; Fatima, S; Hafeez, A; Ijaz, A; Sajid, A, 2018) |
| "Within Europe, the management of pyridoxine (B6) non-responsive homocystinuria (HCU) may vary but there is limited knowledge about treatment practice." | 3.79 | Dietary practices in pyridoxine non-responsive homocystinuria: a European survey. ( Adam, S; Almeida, MF; Carbasius Weber, E; Champion, H; Chan, H; Daly, A; Dixon, M; Dokoupil, K; Egli, D; Evans, S; Eyskens, F; Faria, A; Ferguson, C; Hallam, P; Heddrich-Ellerbrok, M; Jacobs, J; Jankowski, C; Lachmann, R; Lilje, R; Link, R; Lowry, S; Luyten, K; MacDonald, A; Maritz, C; Martins, E; Meyer, U; Müller, E; Murphy, E; Robertson, LV; Rocha, JC; Saruggia, I; Schick, P; Stafford, J; Stoelen, L; Terry, A; Thom, R; van den Hurk, T; van Rijn, M; van Teefelen-Heithoff, A; Webster, D; White, FJ; Wildgoose, J; Zweers, H, 2013) |
| " This finding could have direct implications for the development of a therapeutical approach to pyridoxine unresponsive homocystinuria." | 3.76 | Rescue of cystathionine beta-synthase (CBS) mutants with chemical chaperones: purification and characterization of eight CBS mutant enzymes. ( Carpenter, JF; Kraus, JP; Liu, L; Majtan, T, 2010) |
| "Measurement of ocular axial length by A-scan ultrasound in eyes of homocystinuria patients." | 3.72 | Ocular axial length in homocystinuria patients with and without ocular changes: effects of early treatment and biochemical control. ( Howard, P; Lanigan, B; Mulvihill, A; Naughten, E; O'Keeffe, M; Yap, S, 2004) |
| "To investigate the pharmacokinetics (PK) and pharmacodynamics (PD) of betaine in the treatment of classical homocystinuria due to cystathionine beta-synthase (CbetaS) deficiency with a view to optimizing the dosage regimen." | 3.71 | An indirect response model of homocysteine suppression by betaine: optimising the dosage regimen of betaine in homocystinuria. ( Bonham, JR; Chakrapani, A; Johnson, TN; Matthews, A; Moat, SJ; Rostami-Hodjegan, A; Tucker, GT; Wraith, JE, 2002) |
| "Two mutations in the cystathionine beta-synthase (CBS) gene were found in two Japanese siblings with pyridoxine non-responsive homocystinuria who had different methionine levels in their blood during the neonatal period." | 3.70 | Molecular genetic analysis of pyridoxine-nonresponsive homocystinuric siblings with different blood methionine levels during the neonatal period. ( Chen, S; Ito, M; Kuroda, Y; Naito, E; Saijo, T, 1999) |
| "The aim of the study is to screen patients for homocystinuria with and without cataract and analyse for homocystine and methionine." | 3.70 | Homocystinuria with congenital/developmental cataract. ( Amirthalakshmi, S; Ramakrishnan, S; Sulochana, KN; Tamilselvi, R; Vasanthi, SB, 2000) |
| "It is becoming increasingly apparent that pyridoxine responsive homocystinuria patients are being missed by newborn screening programs." | 3.69 | Newborn screening for homocystinuria. ( Sansaricq, C; Snyderman, SE, 1997) |
| " About half of all patients diagnosed with CBS deficiency respond to pyridoxine treatment with a significant lowering of tHcy levels." | 3.69 | Functional modeling of vitamin responsiveness in yeast: a common pyridoxine-responsive cystathionine beta-synthase mutation in homocystinuria. ( Folling, I; Gallagher, PM; Guttormsen, AB; Kim, CE; Kruger, WD; Ose, L; Refsum, H; Tsai, MY; Ueland, PM; Whitehead, AS, 1997) |
| "We determined the molecular basis of cystathionine beta-synthase (CBS) deficiency in three siblings with pyridoxine responsive homocystinuria using a significantly improved mutation screening method in bacteria." | 3.69 | Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine beta-synthase using an improved bacterial expression system. ( de Franchis, R; Kozich, V; Kraus, JP; McInnes, RR, 1994) |
| "We present two siblings with vitamin B6-nonresponsive homocystinuria due to a deficiency of cystathionine beta-synthase who had different levels of methionine in the blood during the neonatal period, even though they had the same genetic defect." | 3.69 | Two siblings with vitamin B6-nonresponsive cystathionine beta-synthase deficiency and differing blood methionine levels during the neonatal period. ( Ito, M; Kuroda, Y; Matsuda, J; Naito, E; Watanabe, T; Yokota, I, 1997) |
| "We determined the molecular basis of cystathionine beta-synthase (CBS) deficiency in a partially pyridoxine-responsive homocystinuria patient." | 3.69 | Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient. ( Blom, HJ; Boers, GH; Kluijtmans, LA; Kraus, JP; Renier, WO; Stevens, EM; Trijbels, FJ; van den Heuvel, LP, 1996) |
| " Eleven relatives of seven unrelated patients with homocystinuria due to homozygous CBS deficiency and controls were studied with respect to total homocysteine concentrations before and after methionine loading." | 3.69 | Molecular and biochemical approaches in the identification of heterozygotes for homocystinuria. ( Garg, U; Hanson, NQ; Key, NS; Schwichtenberg, K; Suh, A; Tsai, MY, 1996) |
| "We present the results achieved with vitamin (pyridoxine and folic acid) and betaine (trimethyl-glycine) treatment of three patients with homocystinuria." | 3.68 | [Homocystinuria: effectiveness of the treatment with pyridoxine, folic acid, and betaine]. ( Cabello Tomás, ML; Dalmau Serra, J; García Gómez, AM; Montero Brens, C; Rodes Monegal, M; Vilaseca Busca, A, 1993) |
| " All patients have pyridoxine nonresponsive homocystinuria." | 3.68 | Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria. ( Gu, Z; Hu, FL; Kozich, V; Kraus, JP; Ramesh, V; Shih, VE, 1993) |
| " Methionine restriction initiated neonatally prevented mental retardation, retarded the rate of lens dislocation, and may have reduced the incidence of seizures." | 3.67 | The natural history of homocystinuria due to cystathionine beta-synthase deficiency. ( Andria, G; Boers, GH; Bromberg, IL; Cerone, R; Levy, HL; Mudd, SH; Pettigrew, KD; Pyeritz, RE; Skovby, F; Wilcken, B, 1985) |
| "Homocystinuria due to cystathionine beta-synthase deficiency may be responsive to pyridoxine, a precursor of the cofactor pyridoxal phosphate, and the amount of residual enzyme activity present is the probable determinant of this." | 3.67 | Homocystinuria due to cystathionine beta-synthase deficiency--the effects of betaine treatment in pyridoxine-responsive patients. ( Dudman, NP; Tyrrell, PA; Wilcken, DE, 1985) |
| " In an attempt to remove bound homocyst(e)ine, D-penicillamine was given to three patients with pyridoxine-nonresponsive homocystinuria." | 3.66 | The effect of D-penicillamine on protein-bound homocyst(e)ine in homocystinurics. ( Curley, K; Kang, SS; Wong, PW, 1982) |
| "The treatment of homocystinuria that is not responsive to pyridoxine is not usually biochemically or clinically successful, and vascular, ocular, and skeletal complications commonly supervene." | 3.66 | Homocystinuria--the effects of betaine in the treatment of patients not responsive to pyridoxine. ( Dudman, NP; Tyrrell, PA; Wilcken, B; Wilcken, DE, 1983) |
| "Cystathionine beta-synthase, S-adenosylmethionine synthetase and cystathionase activities were assayed in skin fibroblast cultures from five pyridoxine responsive and five pyridoxine non-responsive homocystinurics, six obligate heterozygotes for homocystinuria and ten normal control subjects." | 3.66 | Homocystinuria: studies on cystathionine beta-synthase, S-adenosylmethionine synthetase and cystathionase activities in skin fibroblasts. ( Bittles, AH; Carson, NA, 1981) |
| "Fasting homocystinemia in homocystinuria due to cystathionine synthase deficiency reportedly disappears on high-dose pyridoxine treatment." | 3.66 | Pyridoxine treatment does not prevent homocystinemia after methionine loading in adult homocystinuria patients. ( Boers, GH; Drayer, JI; Kloppenborg, PW; Leermakers, AI; Smals, AG; Trijbels, FJ, 1983) |
| "The metabolic response of patients with homocystinuria due to cystabhionine synthase deficiency to oral loads of homocysteine indicates: that even severely affected patients with homocystinuria have pools of cystine in their tissues; that control of sulfur amino acid metabolism favors increased concentrations of methionine rather than homocystine in the plasma; and that even patients who apparently are not B-6-responsive respond differently to the loads of homocysteine when challenged during B-6-treatment compared with their response before B-6 treatment." | 3.65 | Homocysteine and cysteine loads in patients with homocystinuria due to cystathionine synthase deficiency: effects of vitamin B-6. ( Gaull, GE; Longhi, RC; Rassin, DK; Sternowsky, HJ; Sturman, JA, 1977) |
| " Pyridoxine was found to increase the growth rate of cell cultures from a patient with pyridoxineresponsive homocystinuria and to increase the production of fibrillar proteoglycan by the cells; no effect of pyridoxine was observed in the cell cultures from a patient who failed to respond to pyridoxine therapy." | 3.65 | Macromolecular basis for homocystein-induced changes in proteoglycan structure in growth and arteriosclerosis. ( McCully, KS, 1972) |
| "We investigated the effect of pyridoxine administration in three patients with homocystinuria due to cystathionine synthase deficiency." | 3.65 | Homocystinuria due to cystathionine synthase deficiency: the effect of pyridoxine. ( Brown, MS; Edwards, WA; Laster, L; Loeb, PM; Mudd, SH, 1970) |
| "The levels of cystathionine synthase have been examined in cultured skin fibroblasts obtained from a patient suffering from pyridoxine-non-responsive homocystinuria and compared with the normal and heterozygous states." | 3.65 | Studies on the use of skin fibroblasts for the measurement of cystathionine synthase activity with respect to homocystinuria. ( Griffiths, R; Tudball, N, 1976) |
| "Pyridoxine, vitamin B6, is a cofactor for cystathionine beta synthase, which mediates the transformation of homocysteine to cystathionine, the initial step in the transsulfuration pathway and the urinary excretion of sulfur." | 2.40 | B vitamins and homocysteine in cardiovascular disease and aging. ( Wilcken, B; Wilcken, DE, 1998) |
| "Homocystinuria is an uncommon genetic disease characterized by a marked increase of serum homocysteine (HCY), an intermediate of methionine metabolism." | 2.40 | [Homocysteine and cardiovascular risk]. ( Chapelle, JP; Gielen, J; Lutteri, L, 1999) |
| "Classical homocystinuria is caused by pathogenic variants in the CBS gene leading to a deficiency of the vitamin B6-dependent enzyme cystathionine beta synthase." | 1.91 | Classical homocystinuria presenting with transient basal ganglia pathology and dystonia. ( Averdunk, L; Distelmaier, F; Haack, TB; Klee, D; Thimm, E, 2023) |
| "Ectopia lentis is the common ocular manifestation of homocystinuria resulting from cystathionine beta-synthase (CBS) deficiency which has a high risk of thromboembolic complications." | 1.62 | Recurrent dislocation of binocular crystal lenses in a patient with cystathionine beta-synthase deficiency. ( Hua, N; Ning, Y; Qian, X; Wang, J; Wormington, C; Zhao, L; Zheng, H, 2021) |
| " Pyridoxine dosage was reduced to 500 mg/day, resulting in the disappearance of sensory symptoms and ataxia, and the normalisation of sensory nerve potentials." | 1.48 | Regressive pyridoxine-induced sensory neuronopathy in a patient with homocystinuria. ( Chanson, JB; Echaniz-Laguna, A; Mourot-Cottet, R; Noel, E, 2018) |
| "Treatment with pyridoxine and betaine normalised her homocysteine levels and she has had no further thrombotic event since." | 1.46 | Cerebral venous thrombosis as the first presentation of classical homocystinuria in an adult patient. ( Dawson, C; Geberhiwot, T; Senthil, L; Woods, E, 2017) |
| "The pathological sequelae of untreated homocystinuria due to cystathionine beta-synthase deficiency include ectopia lentis, osteoporosis, thromboembolic events and mental retardation." | 1.31 | The intellectual abilities of early-treated individuals with pyridoxine-nonresponsive homocystinuria due to cystathionine beta-synthase deficiency. ( Howard, PM; Naughten, ER; Rushe, H; Yap, S, 2001) |
| "One pregnancy was terminated and two pregnancies resulted in first-trimester spontaneous abortions." | 1.31 | Reproductive fitness in maternal homocystinuria due to cystathionine beta-synthase deficiency. ( 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, 2002) |
| "Homocystinuria was diagnosed in 15 (0." | 1.29 | Clinical and biochemical studies in homocystinuria. ( Das, GP; Kabra, M; Kaur, M; Suri, M; Verma, IC, 1995) |
| "Eleven days after a caesarean section cerebral infarction was diagnosed." | 1.28 | Cerebral infarction after caesarean section due to heterozygosity for homocystinuria; a case report. ( Boers, GH; de Wit, PH; Minkhorst, AG; van Dongen, PW, 1991) |
| "Homocystinuria is an inborn error of metabolism involving a high incidence of thromboembolism." | 1.26 | Kinetics and distribution of 111Indium-labeled platelets in patients with homocystinuria. ( 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, 1982) |
| "Homocystinuria was studied in 27 patients from 15 families in New South Wales." | 1.26 | Homocystinuria in New South Wales. ( Turner, G; Wilcken, B, 1978) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 109 (59.24) | 18.7374 |
| 1990's | 35 (19.02) | 18.2507 |
| 2000's | 20 (10.87) | 29.6817 |
| 2010's | 13 (7.07) | 24.3611 |
| 2020's | 7 (3.80) | 2.80 |
| Authors | Studies |
|---|---|
| Al-Sadeq, DW | 1 |
| Thanassoulas, A | 1 |
| Islam, Z | 1 |
| Kolatkar, P | 1 |
| Al-Dewik, N | 2 |
| Safieh-Garabedian, B | 1 |
| Nasrallah, GK | 1 |
| Nomikos, M | 1 |
| Li, DX | 1 |
| Chen, ZH | 1 |
| Jin, Y | 1 |
| Song, JQ | 1 |
| Li, MQ | 1 |
| Liu, YP | 1 |
| Li, XY | 1 |
| Chen, YX | 1 |
| Zhang, YN | 1 |
| Lyu, GY | 1 |
| Sun, LY | 1 |
| Zhu, ZJ | 1 |
| Zhang, Y | 1 |
| Yang, YL | 1 |
| Uygur, E | 1 |
| Aktuglu-Zeybek, C | 1 |
| Aghalarov, M | 1 |
| Cansever, MS | 1 |
| Kıykım, E | 1 |
| Zubarioglu, T | 1 |
| Averdunk, L | 1 |
| Thimm, E | 1 |
| Klee, D | 1 |
| Haack, TB | 1 |
| Distelmaier, F | 1 |
| Ames, EG | 1 |
| Scott, AJ | 1 |
| Pappas, KB | 1 |
| Moloney, SM | 1 |
| Conway, RL | 1 |
| Ahmad, A | 1 |
| Kožich, V | 5 |
| Sokolová, J | 1 |
| Morris, AAM | 1 |
| Pavlíková, M | 2 |
| Gleich, F | 1 |
| Kölker, S | 1 |
| Krijt, J | 1 |
| Dionisi-Vici, C | 1 |
| Baumgartner, MR | 1 |
| Blom, HJ | 7 |
| Huemer, M | 2 |
| Hua, N | 1 |
| Ning, Y | 1 |
| Zheng, H | 1 |
| Zhao, L | 1 |
| Qian, X | 1 |
| Wormington, C | 1 |
| Wang, J | 2 |
| Kruger, WD | 4 |
| Poloni, S | 1 |
| Sperb-Ludwig, F | 1 |
| Borsatto, T | 1 |
| Weber Hoss, G | 1 |
| Doriqui, MJR | 1 |
| Embiruçu, EK | 1 |
| Boa-Sorte, N | 1 |
| Marques, C | 1 |
| Kim, CA | 1 |
| Fischinger Moura de Souza, C | 1 |
| Rocha, H | 1 |
| Ribeiro, M | 1 |
| Steiner, CE | 1 |
| Moreno, CA | 1 |
| Bernardi, P | 1 |
| Valadares, E | 1 |
| Artigalas, O | 1 |
| Carvalho, G | 1 |
| Wanderley, HYC | 1 |
| Kugele, J | 1 |
| Walter, M | 1 |
| Gallego-Villar, L | 2 |
| Schwartz, IVD | 1 |
| Fatima, S | 1 |
| Hafeez, A | 1 |
| Ijaz, A | 1 |
| Asif, N | 1 |
| Awan, A | 1 |
| Sajid, A | 1 |
| Echaniz-Laguna, A | 1 |
| Mourot-Cottet, R | 1 |
| Noel, E | 1 |
| Chanson, JB | 1 |
| Sabrane, I | 1 |
| Saoudi, S | 1 |
| El Ikhloufi, M | 1 |
| Elkaissoumi, L | 1 |
| Taouri, N | 1 |
| Amazouzi, A | 1 |
| Cherkaoui, O | 1 |
| Gupta, S | 1 |
| Wang, L | 2 |
| Lee, HO | 1 |
| Nasrallah, G | 1 |
| Häberle, J | 1 |
| Thöny, B | 1 |
| Ben-Omran, T | 1 |
| Narayanan, D | 1 |
| Luvai, A | 1 |
| Barski, R | 1 |
| Sharma, R | 1 |
| Adam, S | 1 |
| Almeida, MF | 1 |
| Carbasius Weber, E | 1 |
| Champion, H | 1 |
| Chan, H | 1 |
| Daly, A | 1 |
| Dixon, M | 1 |
| Dokoupil, K | 1 |
| Egli, D | 1 |
| Evans, S | 1 |
| Eyskens, F | 1 |
| Faria, A | 1 |
| Ferguson, C | 1 |
| Hallam, P | 1 |
| Heddrich-Ellerbrok, M | 1 |
| Jacobs, J | 1 |
| Jankowski, C | 1 |
| Lachmann, R | 1 |
| Lilje, R | 1 |
| Link, R | 1 |
| Lowry, S | 1 |
| Luyten, K | 1 |
| MacDonald, A | 1 |
| Maritz, C | 1 |
| Martins, E | 1 |
| Meyer, U | 1 |
| Müller, E | 1 |
| Murphy, E | 1 |
| Robertson, LV | 1 |
| Rocha, JC | 1 |
| Saruggia, I | 1 |
| Schick, P | 1 |
| Stafford, J | 1 |
| Stoelen, L | 1 |
| Terry, A | 2 |
| Thom, R | 1 |
| van den Hurk, T | 1 |
| van Rijn, M | 1 |
| van Teefelen-Heithoff, A | 1 |
| Webster, D | 1 |
| White, FJ | 2 |
| Wildgoose, J | 1 |
| Zweers, H | 1 |
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| Santra, S | 1 |
| Andria, G | 3 |
| Ben-Omran, TI | 1 |
| Chakrapani, AB | 1 |
| Crushell, E | 1 |
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| Janssen, MC | 1 |
| Maillot, F | 1 |
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| de Almeida, IT | 1 |
| Yap, S | 5 |
| Chapman, KA | 1 |
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| Bachmann, C | 1 |
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| Kraus, JP | 10 |
| Kwok, JS | 1 |
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| Law, EL | 1 |
| Chan, MH | 1 |
| Leung, CB | 1 |
| Tang, NL | 1 |
| Gaustadnes, M | 1 |
| Wilcken, B | 9 |
| Oliveriusova, J | 1 |
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| Wilcken, DE | 7 |
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| Vorstman, E | 1 |
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| Chakrapani, A | 2 |
| Wraith, JE | 3 |
| Moat, SJ | 1 |
| Bonham, JR | 1 |
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| Levy, HL | 3 |
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| Rosengren, S | 1 |
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| Gilfix, BM | 1 |
| MacGregor, D | 1 |
| Shih, VE | 4 |
| Bao, L | 1 |
| Ryan, MM | 1 |
| Sidhu, RK | 1 |
| Alexander, J | 1 |
| Megerian, JT | 1 |
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| Di Bartolo, RM | 1 |
| Molinelli, M | 1 |
| Palmeri, S | 1 |
| Zannolli, R | 1 |
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| Naughten, E | 1 |
| Howard, P | 1 |
| Lanigan, B | 1 |
| Gomber, S | 1 |
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| Vilaseca, MA | 1 |
| Cuartero, ML | 1 |
| Martinez de Salinas, M | 1 |
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| Pintó, X | 1 |
| Urreizti, R | 1 |
| Balcells, S | 1 |
| Grinberg, D | 1 |
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| Lee, PJ | 2 |
| Sim, AS | 1 |
| Green, K | 1 |
| Chen, X | 1 |
| Fazlieva, R | 1 |
| Pierre, G | 1 |
| Gissen, P | 1 |
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| Preece, M | 1 |
| Wright, J | 1 |
| Schoonderwaldt, HC | 1 |
| Boers, GH | 10 |
| Cruysberg, JR | 2 |
| Schulte, BP | 1 |
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| Tateda, H | 1 |
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| Smals, AG | 2 |
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| Trijbels, FJ | 3 |
| Leermakers, AI | 1 |
| Kloppenborg, PW | 2 |
| Kluka, V | 1 |
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| Tischler, V | 1 |
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| Carson, NA | 7 |
| Dudman, NP | 2 |
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| Berlow, S | 1 |
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| Cleophas, AJ | 1 |
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| Ramesh, V | 2 |
| Fringer, JM | 1 |
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| Hou, JW | 1 |
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| Marble, M | 1 |
| Geraghty, MT | 1 |
| de Franchis, R | 2 |
| Valle, D | 1 |
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| Krauss, G | 1 |
| Fowler, B | 4 |
| Baumgartner, R | 1 |
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| Kuroda, Y | 2 |
| Bass, HN | 1 |
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| Sato, W | 1 |
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| Chen, S | 2 |
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| Berrettini, M | 1 |
| Strauss, W | 1 |
| Naughten, ER | 3 |
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| Tamilselvi, R | 1 |
| Ramakrishnan, S | 1 |
| Rushe, H | 1 |
| Howard, PM | 2 |
| Brenton, DP | 3 |
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| Mudd, SH | 5 |
| Schulman, JD | 1 |
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| Mehta, BC | 2 |
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| Maskati, BT | 1 |
| Kraus, J | 2 |
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| Tallan, HH | 1 |
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| Biddle, SA | 1 |
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| Edwards, WA | 2 |
| Tanase, S | 1 |
| Morino, Y | 1 |
| Minkhorst, AG | 1 |
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| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| Efficacy of Betaine for Reduction of Urine Oxalate in Patients With Type 1 Primary Hyperoxaluria[NCT00283387] | Phase 2 | 15 participants (Actual) | Interventional | 2007-02-28 | Completed | ||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
"The patients were randomly assigned oral betaine or placebo for 2 months, followed by a 2 month washout. Each patient then received the alternate study medication for 2 months.~Urinary Oxalate Excretion was measured by oxalate oxidase. Two 24 hour urine collections were obtained at baseline, and during the eighth week of each study period." (NCT00283387)
Timeframe: baseline, 2 months, 6 months
| Intervention | umol/mg (Mean) |
|---|---|
| Betaine | 1.43 |
| Placebo | 1.04 |
19 reviews available for pyridoxine and CBS Deficiency
| Article | Year |
|---|---|
Cystathionine β-synthase deficiency: Of mice and men.
Topics: Animals; Animals, Newborn; Cystathionine beta-Synthase; Disease Models, Animal; Genotype; Homocystei | 2017 |
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.
Topics: Betaine; Cystathionine beta-Synthase; Homocysteine; Homocystinuria; Humans; Methionine; Pyridoxine | 2017 |
Pyridoxine-responsive homocystinuria.
Topics: Adolescent; Animals; Cystathionine beta-Synthase; Homocystinuria; Humans; Male; Pyridoxine | 1981 |
Hyperhomocysteinaemia: a newly recognized risk factor for vascular disease.
Topics: Arteriosclerosis; Betaine; Coronary Disease; Folic Acid; Heterozygote; Homocysteine; Homocystinuria; | 1994 |
Homocysteine and coronary atherosclerosis.
Topics: Coronary Artery Disease; Folic Acid; Homocysteine; Homocystinuria; Humans; Pyridoxine; Risk Factors; | 1996 |
B vitamins and homocysteine in cardiovascular disease and aging.
Topics: Aging; Cardiovascular Diseases; Diet; Folic Acid; Folic Acid Deficiency; Homocysteine; Homocystinuri | 1998 |
Hyperhomocysteinemia, atherosclerosis and thrombosis.
Topics: Adult; Aged; Animals; Arteriosclerosis; Avitaminosis; Case-Control Studies; Clinical Trials as Topic | 1999 |
[Homocysteine and cardiovascular risk].
Topics: Arteriosclerosis; Cardiovascular Diseases; Folic Acid; Homocystinuria; Humans; Hyperhomocysteinemia; | 1999 |
[Molecular basis of vitamin-responsive inborn errors of metabolism].
Topics: Carbon-Nitrogen Ligases; Homocystinuria; Humans; Maple Syrup Urine Disease; Mutation; Pyridoxine; Py | 1999 |
Vascular complications of severe hyperhomocysteinemia in patients with homocystinuria due to cystathionine beta-synthase deficiency: effects of homocysteine-lowering therapy.
Topics: Adolescent; Adult; Aged; Australia; Child; Child, Preschool; Cohort Studies; Cystine; Drug Resistanc | 2000 |
[Homocystinuria].
Topics: Central Nervous System Diseases; Diagnosis, Differential; Homocystinuria; Humans; Infant, Newborn; I | 2000 |
The dietary therapy of inherited metabolic disease.
Topics: Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors; Child; C | 1975 |
Diseases of sulphur metabolism: implications for the methionine-homocysteine cycle, and vitamin responsiveness.
Topics: Adolescent; Cystathionine beta-Synthase; Homocysteine; Homocystinuria; Humans; Metabolism, Inborn Er | 1979 |
The usefulness of pyridoxine in the treatment of homocystinuria: a review of postulated mechanisms of action and a new hypothesis.
Topics: Cystathionine beta-Synthase; Homeostasis; Homocystinuria; Humans; Methionine; Pyridoxine | 1976 |
Recent advances in the mechanism of pyridoxine-responsive disorders.
Topics: Cells, Cultured; Cystathionine beta-Synthase; Fibroblasts; Homocystinuria; Humans; Hydro-Lyases; Pyr | 1985 |
Dietary treatment of inborn errors of metabolism.
Topics: Ammonia; Carbohydrate Metabolism, Inborn Errors; Diet Therapy; Female; Fructose; Galactosemias; Glyc | 1970 |
[Homocystinuria. A review and report of 2 cases].
Topics: Adult; Autopsy; Brain; Homocystinuria; Humans; Kidney; Male; Pedigree; Pyridoxine | 1974 |
Methionine metabolism in man: development and deficiencies.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Cystathionine; Female; Fetus; Heterozygote; Homocystinu | 1974 |
Vitamin B6-dependency syndromes. New horizons in nutrition.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Aminobutyrates; Anemia, Sideroblastic; Animals; Child; | 1969 |
2 trials available for pyridoxine and CBS Deficiency
| Article | Year |
|---|---|
Vascular outcome in patients with homocystinuria due to cystathionine beta-synthase deficiency treated chronically: a multicenter observational study.
Topics: Adolescent; Adult; Aged; Betaine; Cardiovascular Diseases; Child; Child, Preschool; Comorbidity; Dru | 2001 |
The effect of oral betaine on vertebral body bone density in pyridoxine-non-responsive homocystinuria.
Topics: Adolescent; Adult; Amino Acids; Betaine; Child; Female; Homocystine; Homocystinuria; Humans; Male; M | 1988 |
163 other studies available for pyridoxine and CBS Deficiency
| Article | Year |
|---|---|
Pyridoxine non-responsive p.R336C mutation alters the molecular properties of cystathionine beta-synthase leading to severe homocystinuria phenotype.
Topics: Cystathionine beta-Synthase; Homocystinuria; Humans; Mutation; Phenotype; Pyridoxine | 2022 |
[Clinical characteristics and CBS gene analysis of 13 cases with classic homocystinuria].
Topics: Adolescent; Child; Child, Preschool; Cystathionine beta-Synthase; Female; Homocysteine; Homocystinur | 2022 |
A Methionine-Portioning-Based Medical Nutrition Therapy with Relaxed Fruit and Vegetable Consumption in Patients with Pyridoxine-Nonresponsive Cystathionine-β-Synthase Deficiency.
Topics: Cystathionine; Cystathionine beta-Synthase; Diet, Protein-Restricted; Fruit; Homocysteine; Homocysti | 2023 |
Classical homocystinuria presenting with transient basal ganglia pathology and dystonia.
Topics: Child; Cystathionine beta-Synthase; Dystonia; Dystonic Disorders; Homocysteine; Homocystinuria; Huma | 2023 |
A cautionary tale of pyridoxine toxicity in cystathionine beta-synthase deficiency detected by two-tier newborn screening highlights the need for clear pyridoxine dosing guidelines.
Topics: Cystathionine beta-Synthase; Dose-Response Relationship, Drug; Female; Homocystinuria; Humans; Infan | 2020 |
Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.
Topics: Adolescent; Adult; Aged; Child; Child, Preschool; Cystathionine beta-Synthase; Delayed Diagnosis; Eu | 2021 |
Recurrent dislocation of binocular crystal lenses in a patient with cystathionine beta-synthase deficiency.
Topics: Adolescent; Child; Cystathionine beta-Synthase; Ectopia Lentis; Homocystinuria; Humans; Male; Mutati | 2021 |
CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients.
Topics: Adolescent; Adult; Alleles; Base Sequence; Biomarkers, Pharmacological; Brazil; Child; Cystathionine | 2018 |
Classical Homocystinuria in a Juvenile Patient.
Topics: Child, Preschool; Chromatography, Ion Exchange; Cystathionine beta-Synthase; Folic Acid; Homocystein | 2018 |
Regressive pyridoxine-induced sensory neuronopathy in a patient with homocystinuria.
Topics: Adult; Ataxia; Dose-Response Relationship, Drug; Epilepsy; Female; Homocystinuria; Humans; Polyneuro | 2018 |
Ectopia lentis in homocystinuria.
Topics: Child, Preschool; Combined Modality Therapy; Diagnosis, Differential; Diet Therapy; Ectopia Lentis; | 2019 |
Analysis of the Qatari R336C cystathionine β-synthase protein in mice.
Topics: Alleles; Animals; Bortezomib; Cystathionine beta-Synthase; DNA Mutational Analysis; Female; Homocyst | 2019 |
Stroke in a young man.
Topics: Adult; Betaine; Cystathionine beta-Synthase; Diet, Protein-Restricted; Homocysteine; Homocystinuria; | 2013 |
Dietary practices in pyridoxine non-responsive homocystinuria: a European survey.
Topics: Adolescent; Adult; Betaine; Child; Child, Preschool; Diet, Protein-Restricted; Europe; Female; Homoc | 2013 |
Cerebral venous thrombosis as the first presentation of classical homocystinuria in an adult patient.
Topics: Adult; Betaine; Cerebral Angiography; Computed Tomography Angiography; Diagnostic Errors; Dysarthria | 2017 |
Recurrent postpartum cerebral sinus vein thrombosis as a presentation of cystathionine-beta-synthase deficiency.
Topics: Adult; Anticoagulants; Anticonvulsants; Epilepsy; Female; Folic Acid; Homocystinuria; Humans; Hyperh | 2010 |
Rescue of cystathionine beta-synthase (CBS) mutants with chemical chaperones: purification and characterization of eight CBS mutant enzymes.
Topics: Cystathionine beta-Synthase; Enzyme Stability; Escherichia coli; Escherichia coli Proteins; Homocyst | 2010 |
CBS gene mutations found in a Chinese pyridoxine-responsive homocystinuria patient.
Topics: Adult; Asian People; Cystathionine beta-Synthase; DNA Mutational Analysis; Female; Genotype; Heteroz | 2011 |
The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment.
Topics: Adolescent; Adult; Australia; Blotting, Western; Child; Child, Preschool; Cystathionine beta-Synthas | 2002 |
Plummeting lenses in the TB clinic.
Topics: Antitubercular Agents; Child; Folic Acid; Homocystinuria; Humans; Isoniazid; Lens Subluxation; Male; | 2002 |
Sagittal sinus thrombosis in a teenager: homocystinuria associated with reversible antithrombin deficiency.
Topics: Adolescent; Antithrombin III Deficiency; Betaine; Child; Drug Therapy, Combination; Heparin; Heparin | 2002 |
An indirect response model of homocysteine suppression by betaine: optimising the dosage regimen of betaine in homocystinuria.
Topics: Administration, Oral; Adolescent; Betaine; Child; Cystathionine beta-Synthase; Dose-Response Relatio | 2002 |
Reproductive fitness in maternal homocystinuria due to cystathionine beta-synthase deficiency.
Topics: Adolescent; Adult; Amino Acids; Amino Acids, Sulfur; Child; Child, Preschool; Cystathionine beta-Syn | 2002 |
Homocystinuria presenting as psychosis in an adolescent.
Topics: Acute Disease; Adolescent; Antidepressive Agents; Antipsychotic Agents; Diagnosis, Differential; Hom | 2002 |
Atypical BECTS and homocystinuria.
Topics: Adolescent; Adult; Anticonvulsants; Child; Diet Therapy; Drug Resistance; Electroencephalography; Ep | 2003 |
Ocular axial length in homocystinuria patients with and without ocular changes: effects of early treatment and biochemical control.
Topics: Adolescent; Adult; Astigmatism; Body Weights and Measures; Child; Cystathionine beta-Synthase; Diet, | 2004 |
Homocystinuria: a rare cause of megaloblastic anemia.
Topics: Anemia, Megaloblastic; Child; Drug Therapy, Combination; Folic Acid; Homocystinuria; Humans; Male; P | 2004 |
Two successful pregnancies in pyridoxine-nonresponsive homocystinuria.
Topics: Abortion, Spontaneous; Adult; Anticoagulants; Betaine; Diet, Protein-Restricted; Female; Gastrointes | 2004 |
Social outcome in treated individuals with inherited metabolic disorders: UK study.
Topics: Adolescent; Adult; Aged; Child; Employment; Female; Follow-Up Studies; Galactosemias; Homocystinuria | 2005 |
Asymmetric dimethylarginine in homocystinuria due to cystathionine beta-synthase deficiency: relevance of renal function.
Topics: Adult; Arginine; Creatinine; Cystathionine beta-Synthase; Cystatin C; Cystatins; Female; Homocystein | 2006 |
Contrasting behaviors of mutant cystathionine beta-synthase enzymes associated with pyridoxine response.
Topics: Alleles; Animals; Cystathionine beta-Synthase; Homocysteine; Homocystinuria; Humans; Kinetics; Mice; | 2006 |
Successful treatment of pyridoxine-unresponsive homocystinuria with betaine in pregnancy.
Topics: Adult; Betaine; Female; Gastrointestinal Agents; Homocystinuria; Humans; Pregnancy; Pregnancy Compli | 2006 |
Neurologic manifestations of homocystinuria.
Topics: Adult; Diagnosis, Differential; Ectopia Lentis; Female; Homocystinuria; Humans; Intellectual Disabil | 1981 |
Electroencephalographic abnormalities in homocystinuria due to cystathionine synthase deficiency.
Topics: Adolescent; Adult; Child; Child, Preschool; Cystathionine beta-Synthase; Electroencephalography; Fem | 1983 |
Lens subluxation in homocystinuria. A case report.
Topics: Anesthesia, General; Child; Dose-Response Relationship, Drug; Female; Homocystinuria; Humans; Lens S | 1984 |
Pyridoxine treatment does not prevent homocystinemia after methionine loading in adult homocystinuria patients.
Topics: Adult; Cysteine; Cystine; Female; Homocysteine; Homocystine; Homocystinuria; Humans; Male; Methionin | 1983 |
[Pyridoxine-sensitive homocystinuria in 2 siblings].
Topics: Child; Child, Preschool; Female; Homocystinuria; Humans; Male; Pedigree; Pyridoxine | 1983 |
[A case of vitamin B6 dependent homocystinuria with primary pigmentary degeneration of retina, and cerebral thrombosis].
Topics: Homocystinuria; Humans; Hypertension; Intracranial Embolism and Thrombosis; Male; Middle Aged; Pyrid | 1984 |
Homocystinuria: studies on cystathionine beta-synthase, S-adenosylmethionine synthetase and cystathionase activities in skin fibroblasts.
Topics: Cells, Cultured; Cystathionine beta-Synthase; Cystathionine gamma-Lyase; Fibroblasts; Genetic Carrie | 1981 |
Homocystinuria: the effect of pyridoxine supplementation on cultured skin fibroblasts.
Topics: Bicarbonates; Cells, Cultured; Cystathionine beta-Synthase; Fibroblasts; Glucose; Heterozygote; Homo | 1981 |
Homocystinuria--the effects of betaine in the treatment of patients not responsive to pyridoxine.
Topics: Amino Acids; Amino Acids, Sulfur; Betaine; Cystathionine beta-Synthase; Cysteine; Female; Homocystei | 1983 |
Homocystinuria treated with pyridoxine.
Topics: Adolescent; Adult; Amino Acids; Creatinine; Female; Homocystinuria; Humans; Lens Subluxation; Lens, | 1982 |
Homocystinuria caused by 5,10-methylenetetrahydrofolate reductase deficiency: a case in an infant responding to methionine, folinic acid, pyridoxine, and vitamin B12 therapy.
Topics: 5,10-Methylenetetrahydrofolate Reductase (FADH2); Alcohol Oxidoreductases; Amino Acids; Drug Therapy | 1981 |
[Homocystinuria with unusual neurologic features including chorea: a case-report (author's transl)].
Topics: Child; Chorea; Female; Homocystinuria; Humans; Methionine; Pyridoxine; Thrombosis | 1982 |
The effect of D-penicillamine on protein-bound homocyst(e)ine in homocystinurics.
Topics: Adolescent; Adult; Blood Proteins; Female; Homocysteine; Homocystine; Homocystinuria; Humans; Male; | 1982 |
Kinetics and distribution of 111Indium-labeled platelets in patients with homocystinuria.
Topics: Adolescent; Adult; Blood Platelets; Homocystine; Homocystinuria; Humans; Indium; Kinetics; Middle Ag | 1982 |
Methionine, pyridoxine and endothelial lesion in rats.
Topics: Animals; Aspirin; Dose-Response Relationship, Drug; Drug Antagonism; Endothelium; Female; Homocystin | 1980 |
The use of betaine for the treatment of homocystinuria.
Topics: Administration, Oral; Adult; Betaine; Child; Female; Folic Acid; Homocystine; Homocystinuria; Humans | 1981 |
[Homocystinuria. Histological and ultrastructural study. Report of a case (author's transl)].
Topics: Child; Connective Tissue; Hair Color; Homocystinuria; Humans; Male; Pyridoxine; Skin | 1981 |
[Thromboembolic manifestations in a case of homocystinuria].
Topics: Adolescent; Homocystinuria; Humans; Male; Pyridoxine; Thromboembolism | 1981 |
Mild elevations of plasma ornithine in homocystinuria.
Topics: Adolescent; Adult; Child; Child, Preschool; Female; Homocystinuria; Humans; Male; Methionine; Ornith | 1981 |
Symptoms, diagnostic pitfalls, and treatment of homocystinuria in seven adult patients.
Topics: Adult; Cyanides; Cystine; Female; Homocystine; Homocystinuria; Humans; Male; Methionine; Middle Aged | 1980 |
Homocystinuria (cystathionine synthase deficiency). Results of treatment in late-diagnosed patients.
Topics: Adolescent; Adult; Age Factors; Child; Child, Preschool; Cystine; Endarteritis; Female; Homocystinur | 1980 |
Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria.
Topics: Adult; Amino Acid Sequence; Base Sequence; Cystathionine beta-Synthase; DNA; Exons; Female; Genes, R | 1993 |
A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype.
Topics: Adult; Base Sequence; Cell Line; Child; Cystathionine beta-Synthase; DNA Mutational Analysis; Exons; | 1995 |
Pyridoxine-responsive homocystinuria with ruptured sinus of Valsalva in a Chinese boy.
Topics: Adolescent; Aortic Rupture; Homocystinuria; Humans; Male; Pyridoxine; Sinus of Valsalva; Taiwan | 1994 |
Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria.
Topics: Alleles; Amino Acid Sequence; Animals; Base Sequence; Conserved Sequence; Cystathionine beta-Synthas | 1994 |
Coagulation factors and markers of activation of coagulation in homocystinuria (HOCY): a study in two siblings.
Topics: Adult; Antithrombin III Deficiency; Biomarkers; Blood Coagulation; Blood Coagulation Factors; Cystat | 1994 |
Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine beta-synthase using an improved bacterial expression system.
Topics: Adult; Alleles; Amino Acid Sequence; Base Sequence; Cell Line; Child, Preschool; Cystathionine beta- | 1994 |
[Homocystinuria: effectiveness of the treatment with pyridoxine, folic acid, and betaine].
Topics: Betaine; Child; Child, Preschool; Drug Evaluation; Female; Folic Acid; Homocysteine; Homocystinuria; | 1993 |
Sensory neuropathy and vitamin B6 treatment in homocystinuria.
Topics: Adolescent; Adult; Dose-Response Relationship, Drug; Homocystinuria; Humans; Neural Conduction; Pyri | 1993 |
Molecular and biochemical approaches in the identification of heterozygotes for homocystinuria.
Topics: Adolescent; Adult; Base Sequence; Biochemistry; Cystathionine beta-Synthase; DNA Mutational Analysis | 1996 |
Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient.
Topics: Adult; Amino Acid Sequence; Asparagine; Aspartic Acid; Base Sequence; Cystathionine beta-Synthase; D | 1996 |
Clinical and biochemical studies in homocystinuria.
Topics: Child; Child, Preschool; Developing Countries; Ectopia Lentis; Female; Homocystinuria; Humans; Incid | 1995 |
Two novel mutations (K384E and L539S) in the C-terminal moiety of the cystathionine beta-synthase protein in two French pyridoxine-responsive homocystinuria patients.
Topics: Cells, Cultured; Cystathionine beta-Synthase; Fibroblasts; France; Homocystinuria; Humans; Mutation; | 1997 |
Newborn screening for homocystinuria.
Topics: Homocystine; Homocystinuria; Humans; Infant, Newborn; Methionine; Neonatal Screening; Pyridoxine; Re | 1997 |
Homocystinuria with early thromboembolic episodes and rapid response to high dose pyridoxine.
Topics: Child; Homocystinuria; Humans; Male; Pyridoxine; Thromboembolism; Treatment Outcome | 1997 |
Functional modeling of vitamin responsiveness in yeast: a common pyridoxine-responsive cystathionine beta-synthase mutation in homocystinuria.
Topics: Adolescent; Adult; Alleles; Child; Cloning, Molecular; Cystathionine beta-Synthase; DNA Mutational A | 1997 |
Two siblings with vitamin B6-nonresponsive cystathionine beta-synthase deficiency and differing blood methionine levels during the neonatal period.
Topics: Child; Cystathionine beta-Synthase; Drug Resistance; Female; Homocystinuria; Humans; Japan; Male; Me | 1997 |
Spontaneous pneumothorax in association with pyridoxine-responsive homocystinuria.
Topics: Adolescent; Homocystine; Homocystinuria; Humans; Male; Marfan Syndrome; Methionine; Pneumothorax; Py | 1997 |
Strategies for the treatment of cystathionine beta-synthase deficiency: the experience of the Willink Biochemical Genetics Unit over the past 30 years.
Topics: Adolescent; Adult; Betaine; Child; Child, Preschool; Cystathionine beta-Synthase; Dose-Response Rela | 1998 |
Acute life-threatening event with rhabdomyolysis after starting on high-dose pyridoxine therapy in an infant with homocystinuria.
Topics: Acute Disease; Dose-Response Relationship, Drug; Female; Homocystinuria; Humans; Infant; Pyridoxine; | 1998 |
The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment.
Topics: Adolescent; Adult; Betaine; Child; Child, Preschool; Cystathionine beta-Synthase; Female; Fibroblast | 1999 |
Homocystinuria and psychiatric disorder: a case report.
Topics: Adult; Affective Disorders, Psychotic; Female; Homocystinuria; Humans; Pyridoxine | 1999 |
Molecular genetic analysis of pyridoxine-nonresponsive homocystinuric siblings with different blood methionine levels during the neonatal period.
Topics: Adolescent; Child; Cystathionine beta-Synthase; Escherichia coli; Female; Homocystinuria; Humans; Ma | 1999 |
Tissue factor pathway inhibitor levels in patients with homocystinuria.
Topics: Adult; Betaine; Biomarkers; Cystathionine beta-Synthase; Endothelium; Factor VII; Female; Fibrinolyt | 2000 |
Homocystinuria with congenital/developmental cataract.
Topics: Adult; Cataract; Child; Chromatography, Paper; Female; Homocystine; Homocystinuria; Humans; Male; Ma | 2000 |
The intellectual abilities of early-treated individuals with pyridoxine-nonresponsive homocystinuria due to cystathionine beta-synthase deficiency.
Topics: Adolescent; Adult; Child; Child, Preschool; Cystathionine beta-Synthase; Cystine; Diet; Drug Resista | 2001 |
Classic homocystinuria: clinical, biochemical and radiological observations, and therapeutic outcome of 24 Saudi patients.
Topics: Betaine; Child; Child, Preschool; Combined Modality Therapy; Consanguinity; Drug Monitoring; Drug Th | 1999 |
[Convulsive disorders in inborn errors of metabolism (author's transl)].
Topics: Electroencephalography; Gangliosidoses; Homocystinuria; Humans; Metabolism, Inborn Errors; Phenylket | 1979 |
Approaches to the treatment of inborn errors of sulphur amino acid and peptide metabolism.
Topics: Amino Acids, Sulfur; Ascorbic Acid; Aspirin; Cysteamine; Cystinosis; Dipyridamole; Glutathione; Glut | 1979 |
Homocystinuria and response to pyridoxine.
Topics: Adolescent; Homocystinuria; Humans; Male; Pyridoxine | 1979 |
Homocystinuria--response to pyridoxine therapy.
Topics: Adolescent; Child; Ectopia Lentis; Female; Homocystinuria; Humans; Male; Metabolism, Inborn Errors; | 1979 |
Homocystinuria. Evidence for three distinct classes of cystathionine beta-synthase mutants in cultured fibroblasts.
Topics: Adolescent; Adult; Cell Line; Child; Child, Preschool; Cystathionine beta-Synthase; Female; Fibrobla | 1978 |
Homocystinuria in New South Wales.
Topics: Adolescent; Adult; Australia; Bone and Bones; Child; Child, Preschool; Ectopia Lentis; Female; Folic | 1978 |
Cystathionine beta-synthase deficiency: observations on the biochemical lesion in a vitamin B6 non-responsive patient.
Topics: Cells, Cultured; Cross Reactions; Cystathionine beta-Synthase; Electrophoresis, Polyacrylamide Gel; | 1978 |
Cystathionine beta-synthase deficiency: a qualitative abnormality of the deficient enzyme modified by vitamin B6 therapy.
Topics: Coenzymes; Cystathionine beta-Synthase; Enzyme Activation; Female; Heterozygote; Homocystinuria; Hot | 1977 |
Pregnancy and homocystinuria.
Topics: Amino Acids; Female; Homocystinuria; Humans; Pedigree; Pregnancy; Pregnancy Complications; Pyridoxin | 1977 |
Homocysteine and cysteine loads in patients with homocystinuria due to cystathionine synthase deficiency: effects of vitamin B-6.
Topics: Cystathionine beta-Synthase; Cysteine; Cystine; Cystinuria; Disulfides; Female; Homocysteine; Homocy | 1977 |
Free amino acids in liver of patients with homocystinuria due to cystathionine synthase deficiency: effects of vitamin B6.
Topics: Amino Acids, Sulfur; Cystathionine beta-Synthase; Homocystinuria; Humans; Hydro-Lyases; Liver; Male; | 1977 |
[Various clinical and therapeutic aspects of homocystinuria].
Topics: Folic Acid; Homocystinuria; Humans; Pyridoxine; Vitamin B 12 | 1977 |
[Thrombosis of intracraneal sinuses in homocystinuria (author's transl)].
Topics: Aspirin; Cerebral Angiography; Child, Preschool; Cranial Sinuses; Dipyridamole; Drug Therapy, Combin | 1977 |
[Pyridoxine-sensitive homocystinuria].
Topics: Child; Female; Homocystinuria; Humans; Pyridoxine | 1976 |
Studies on the use of skin fibroblasts for the measurement of cystathionine synthase activity with respect to homocystinuria.
Topics: Adolescent; Cells, Cultured; Cystathionine beta-Synthase; Drug Stability; Female; Fibroblasts; Heter | 1976 |
Homocystinuria due to cystathionine synthase deficiency. Studies of nitrogen balance and sulfur excretion.
Topics: Adolescent; Adult; Amino Acids; Child; Cystathionine; Cystine; Diet; Female; Homocystinuria; Humans; | 1975 |
Pyridoxine responsive and unresponsive homocystinuria.
Topics: Base Sequence; Cells, Cultured; Cystathionine beta-Synthase; Genetic Testing; Homocystinuria; Humans | 1992 |
[Vitamin B6 dependency syndrome].
Topics: Amino Acid Metabolism, Inborn Errors; Aspartate Aminotransferases; Cystathionine; Homocystinuria; Hu | 1992 |
Cerebral infarction after caesarean section due to heterozygosity for homocystinuria; a case report.
Topics: Adult; Cerebral Infarction; Cesarean Section; Female; Heterozygote; Homocystinuria; Humans; Pregnanc | 1991 |
No sensory neuropathy during pyridoxine treatment in homocystinuria.
Topics: Adolescent; Child; Child, Preschool; Drug Administration Schedule; Female; Homocystinuria; Humans; I | 1991 |
Delayed diagnosis of homocystinuria in a myopic.
Topics: Adult; Folic Acid; Homocystine; Homocystinuria; Humans; Male; Myopia; Pyridoxine | 1991 |
Pyridoxine-unresponsive homocystinuria with an unusual clinical course.
Topics: Adolescent; Diagnosis, Differential; Homocystinuria; Humans; Male; Pyridoxine; Sinus Thrombosis, Int | 1990 |
Cystathionine-synthase-deficient patients do not use the transamination pathway of methionine to reduce hypermethioninemia and homocystinemia.
Topics: Adolescent; Adult; Cystathionine beta-Synthase; Fasting; Female; Homocystinuria; Humans; Hydro-Lyase | 1989 |
Lowered antithrombin III activity and other clotting changes in homocystinuria: effects of a pyridoxine-folate regimen.
Topics: Adolescent; Antithrombin III; Blood Coagulation Disorders; Child, Preschool; Female; Folic Acid; Hom | 1989 |
Aspects of treatment of homocystinuria: an illustrative case report.
Topics: Adolescent; Female; Homocystinuria; Humans; Pyridoxine | 1988 |
Psychiatric manifestations of homocystinuria due to cystathionine beta-synthase deficiency: prevalence, natural history, and relationship to neurologic impairment and vitamin B6-responsiveness.
Topics: Cystathionine beta-Synthase; Depression; Homocystinuria; Humans; Hydro-Lyases; Intelligence; Mood Di | 1987 |
Homocystinuria--an unusual cause of hemiplegia.
Topics: Adult; Ectopia Lentis; Hemiplegia; Homocystinuria; Humans; Intracranial Embolism and Thrombosis; Mal | 1986 |
Blood coagulation changes in homocystinuria: effects of pyridoxine and other specific therapy.
Topics: Adolescent; Amino Acids; Antithrombin III; Blood Coagulation; Child, Preschool; Factor VII; Factor X | 1986 |
Homocystinuria--a cause for stroke in young.
Topics: Adult; Cerebrovascular Disorders; Homocystinuria; Humans; Male; Pyridoxine; Recurrence; Vertebrobasi | 1986 |
Nutrition support of inborn errors of amino acid metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Computers; Drug Resistance; Homocystinuria; Humans; Infant; In | 1985 |
The natural history of homocystinuria due to cystathionine beta-synthase deficiency.
Topics: Adolescent; Adult; Child; Child, Preschool; Clinical Enzyme Tests; Cystathionine beta-Synthase; Fema | 1985 |
Homocystinuria due to cystathionine beta-synthase deficiency--the effects of betaine treatment in pyridoxine-responsive patients.
Topics: Adolescent; Adult; Betaine; Child; Cystathionine beta-Synthase; Cysteine; Drug Therapy, Combination; | 1985 |
Pyridoxine treatment in homocystinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Diet Therapy; Dietary Proteins; Femal | 1967 |
Treatment of homocystinuria with a low-methionine diet, supplemental cystine, and a methyl donor.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Child, Preschool; Choline; Cys | 1968 |
Pyridoxine-dependency in homocystinuria.
Topics: Homocystinuria; Humans; Hydro-Lyases; Pyridoxine | 1968 |
Pyridoxine in homocystinuria.
Topics: Adolescent; Child; Female; Homocystinuria; Humans; Male; Pyridoxine | 1969 |
Homocystinemia. Vascular injury and arterial thrombosis.
Topics: Adolescent; Adult; Animals; Blood Cell Count; Blood Coagulation; Blood Platelets; Blood Vessels; Dip | 1974 |
Effect of pyridoxine treatment of a homocystinuric patient on the urinary excretion of some sulfur-containing amino acids.
Topics: Alanine; Amino Acids, Sulfur; Cystinuria; Disulfides; Homocysteine; Homocystine; Homocystinuria; Hum | 1974 |
The effect of pyridoxine on platelet adhesiveness in homocystinuria.
Topics: Adolescent; Adult; Child; Female; Homocystine; Homocystinuria; Humans; Male; Methionine; Platelet Ad | 1974 |
Variability of the urinary excretion of homocystine and inorganic sulfate in a patient with homocystinuria.
Topics: Child; Diet; Diet Therapy; Homocystine; Homocystinuria; Humans; Pyridoxine; Sulfates | 1972 |
[Homocystinuria; experiences with therapy].
Topics: Homocystinuria; Humans; Pyridoxine | 1972 |
Homocystinuria. Reduced folate levels during pyridoxine treatment.
Topics: Child; Child, Preschool; Cystine; Erythrocytes; Female; Folic Acid; Homocysteine; Homocystine; Homoc | 1973 |
Tissue culture techniques as an aid to prenatal diagnosis and genetic counselling in homocystinuria.
Topics: Adult; Biopsy; Clinical Enzyme Tests; Culture Techniques; Cystathionine; Female; Fibroblasts; Geneti | 1973 |
[Homocystinuria: clinical picture, therapy and results in 8 patients].
Topics: Body Weight; Child; Child, Preschool; Cystine; Dietary Proteins; Female; Hair; Homocystine; Homocyst | 1973 |
Homocystinuria: studies in tissue culture.
Topics: Culture Techniques; Fibroblasts; Heterozygote; Homocysteine; Homocystine; Homocystinuria; Humans; Hy | 1973 |
Pregnancy and homocystinuria.
Topics: Adult; Amnion; Blood Coagulation Tests; Cell Line; Cystine; Female; Fibroblasts; Folic Acid; Homocys | 1973 |
High pyridoxine diet in the rat: possible implications for megavitamin therapy.
Topics: Adipose Tissue; Animal Nutritional Physiological Phenomena; Animals; Body Weight; Cell Count; Cystat | 1973 |
[Pathogenesis of cerebral damage in homocystinuria].
Topics: Brain; Brain Diseases; Cerebrovascular Disorders; Child; Electroencephalography; Epilepsy; Female; H | 1973 |
Homocystinuria: the first report in Thailand.
Topics: Child; Consanguinity; Hair; Homocystinuria; Humans; Male; Pedigree; Pyridoxine; Thailand | 1973 |
[Vitamin B 6 dependency].
Topics: Child; Cystathionine; Female; Homocystinuria; Humans; Infant; Male; Metabolism, Inborn Errors; Pyrid | 1973 |
Homocystinuria due to cystathionine synthase deficiency: enzymatic and ultrastructural studies.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Biopsy, Needle; Child; Child, Preschool; Cy | 1974 |
Homocystinuria due to cystathionine synthase deficiency: clinical-roentgenologic correlations.
Topics: Adult; Bone Diseases; Child; Child, Preschool; Cystathionine; Eye Manifestations; Female; Homocystin | 1974 |
Investigations of coagulation and fibrinolysis in homocystinuria.
Topics: Adult; Blood Coagulation; Cystine; Diet; Factor V; Female; Fibrinogen; Fibrinolysis; Folic Acid; Hom | 1974 |
Macromolecular basis for homocystein-induced changes in proteoglycan structure in growth and arteriosclerosis.
Topics: Arteriosclerosis; Cell Line; Cells, Cultured; Contact Inhibition; Cytoplasmic Granules; Growth Hormo | 1972 |
[Amino acid metabolism and mental retardation].
Topics: Diet Therapy; Female; Homocystinuria; Humans; Intellectual Disability; Intelligence; Male; Methionin | 1972 |
Studies of the mechanism of pyridoxine-responsive homocystinuria.
Topics: Adolescent; Cells, Cultured; Cystine; Cystinuria; Fibroblasts; Homocystine; Homocystinuria; Humans; | 1972 |
Pyridoxine-dependent hair pigmentation in association with homocystinuria. The induction of melanotrichia.
Topics: Adolescent; Female; Hair; Homocystinuria; Humans; Melanins; Melanocytes; Pigmentation Disorders; Pyr | 1972 |
Homocystinuria, vitamin B 6 , and folate: metabolic interrelationships and clinical significance.
Topics: Alcohol Oxidoreductases; Cystathionine; Folic Acid; Glycine; Homocystine; Homocystinuria; Humans; L- | 1972 |
Combined vitamin responsiveness in homocystinuria.
Topics: Adolescent; Adult; Amino Acids; Child; Drug Synergism; Female; Folic Acid; Folic Acid Deficiency; Gl | 1972 |
An intrinsic blood platelet abnormality in an homocystinuric boy, corrected by pyridoxine administration.
Topics: Adenine Nucleotides; Blood Platelet Disorders; Child; Diet Therapy; Dietary Proteins; Homocystinuria | 1971 |
[Homocystinuria in Central Europe. Results of a survey].
Topics: Austria; Child; Child, Preschool; Cystine; Diet Therapy; Germany, East; Germany, West; Homocystinuri | 1971 |
Ectopia lentis due to homocystinuria.
Topics: Adolescent; Child; Diagnosis, Differential; Female; Hemorrhage; Homocystinuria; Humans; Lens, Crysta | 1971 |
Homocystinuria: the significance of its successful treatment.
Topics: Adolescent; Adult; Amino Acids; Child; Child, Preschool; Diet Therapy; Erythrocytes; Female; Hair; H | 1969 |
Homocystinuria.
Topics: Cardiovascular Diseases; Child; Child, Preschool; Diet Therapy; Eye Diseases; Folic Acid; Homocystin | 1970 |
An unusual case of homocystinuria.
Topics: Child; Eye Manifestations; Homocystinuria; Humans; Joint Diseases; Knee Joint; Lens, Crystalline; Ma | 1970 |
Recent clinical advances in the treatment of neurological diseases.
Topics: Brain Diseases; Child, Preschool; Chronic Disease; Cystine; Diet Therapy; Dopamine; Folic Acid; Homo | 1970 |
Homocystinuria due to cystathionine synthase deficiency: the effect of pyridoxine.
Topics: Adult; Aldehydes; Autoanalysis; Carbon Isotopes; Chromatography; Cysteine; Diet; Diet Therapy; Enzym | 1970 |
Homocystinuria. Response to pyridoxine.
Topics: Adolescent; Child; Child, Preschool; Chromatography, Ion Exchange; Electroencephalography; Female; H | 1970 |
Pyridoxine-unresponsive homocystinuria.
Topics: Adult; Autopsy; Carotid Arteries; Child; Child, Preschool; Homocystine; Homocystinuria; Humans; L-Se | 1970 |
[Pepper type neuroblastoma with homocystinuria. Diagnosis, biochemistry and therapy].
Topics: Amino Acids; Catecholamines; Child, Preschool; Cyclophosphamide; Dopamine; Homocystinuria; Humans; L | 1970 |
Homocystinuria. Report of two cases in siblings.
Topics: Child; Cystine; Diet Therapy; Female; Folic Acid; Homocystinuria; Humans; Intellectual Disability; L | 1970 |
A case of homocystinuria with a dystonic neurological syndrome.
Topics: Adolescent; Cystine; Extrapyramidal Tracts; Folic Acid; Homocystine; Homocystinuria; Humans; Male; M | 1970 |
Management of patients with homocystinuria requiring surgery under general anaesthesia. A case report.
Topics: Anesthesia, Dental; Anesthesia, General; Child; Dental Restoration, Permanent; Homocystine; Homocyst | 1971 |
Vitamin B6 dependency in homocystinuria.
Topics: Adolescent; Adult; Homocystinuria; Humans; Hydro-Lyases; Liver; Male; Pyridoxine | 1971 |
A hypothesis on the homocystinuric's response to pyridoxine.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Chemistry, Clinical; Cysteine; Homocystinuria; Hum | 1968 |
Homocystinuria as affected by pyridoxine, folic acid, and vitamin B12.
Topics: Adolescent; Child; Diet; Female; Folic Acid; Homocystinuria; Humans; Hydro-Lyases; Liver; Male; Meth | 1968 |
Biochemical response to oral pyridoxine in homocystinuria.
Topics: Homocysteine; Homocystinuria; Humans; Pyridoxine | 1968 |
Biochemical and therapeutic studies in two cases of homocystinuria.
Topics: Amino Acids; Child; Child, Preschool; Chromatography, Paper; Diet Therapy; Female; Homocystinuria; H | 1968 |
Homocystinuria of vitamin B6 dependent type.
Topics: Amino Acids; Aspartate Aminotransferases; Child; Child, Preschool; Chromatography, Thin Layer; Elect | 1968 |
Psychiatric and biochemical aspects of a case of homocystinuria.
Topics: Adult; Cystine; Female; Homocystinuria; Humans; Male; Mental Disorders; Methionine; Middle Aged; Ped | 1969 |
Treatment of homocystinuria with pyridoxine. A preliminary study.
Topics: Adolescent; Adult; Aminobutyrates; Child; Child, Preschool; Cystine; Female; Folic Acid; Folic Acid | 1969 |
Homocystinuria: vitamin B6 dependent or not?
Topics: Homocystinuria; Humans; Pyridoxine | 1969 |
The successful treatment of homocystinuria with pyridoxine.
Topics: Adolescent; Adult; Amino Acids; Blood Platelets; Child; Child, Preschool; Erythrocytes; Female; Hair | 1969 |
Treatment of hemocystinuria.
Topics: Child; Diet Therapy; Homocystinuria; Humans; Pyridoxine | 1969 |