betaine has been researched along with CBS Deficiency in 91 studies
glycine betaine : The amino acid betaine derived from glycine.
| Excerpt | Relevance | Reference |
|---|---|---|
| " We studied the pharmacokinetics of betaine and its metabolite dimethylglycine (DMG) in healthy subjects and in three patients with homocystinuria." | 9.10 | Pharmacokinetics of oral betaine in healthy subjects and patients with homocystinuria. ( Balkenhol, N; Hafner, D; Hohlfeld, T; Laryea, MD; Schwahn, BC; Wendel, U, 2003) |
| "The homocystinurias, caused by defects of remethylation and cystathionine-beta-synthase (CBS) deficiency, are characterized by elevated homocysteine and abnormal methionine levels." | 7.96 | Laboratory evaluation of homocysteine remethylation disorders and classic homocystinuria: Long-term follow-up using a cohort of 123 patients. ( Asamoah, A; De Biase, I; Gherasim, C; La'ulu, SL; Longo, N; Yuzyuk, T, 2020) |
| "The Registry of Adult and Paediatric Patients Treated with Cystadane® - Homocystinuria (RoCH) is a non-interventional, observational, multi-centre, post-authorization safety study that aimed to identify safety of betaine anhydrous (Cystadane®) in the treatment of patients with inborn errors of homocysteine metabolism (homocystinuria) in order to minimise the treatment associated risks and establish better knowledge on its clinical use." | 7.91 | Betaine anhydrous in homocystinuria: results from the RoCH registry. ( Aldamiz-Echevarria, L; Brunet, D; Cano, A; Cathebras, P; Couce, ML; Dalmau, J; Damaj, L; Dobbelaere, D; Eyer, D; García-Cazorla, A; Gay, C; Guffon, N; Hiéronimus, S; Levrat, V; Maillot, F; Martinez-Pardo Casanova, M; Nadjar, Y; Peña-Quintana, L; Rigalleau, V; Schiff, M; Touati, G; Valayannopoulos, V, 2019) |
| "Patients with combined methylmalonic acidemia and homocystinuria respond to a combined treatment consisting of supplementation of hydroxycobalamin, betaine, folic acid, vitamin B6 and L-carnitine with clinical and biochemical improvement." | 7.79 | [Outcomes of patients with combined methylmalonic acidemia and homocystinuria after treatment]. ( Gao, XL; Gu, XF; Han, LS; Huang, Z; Ji, WJ; Li, XY; Qiu, WJ; Wang, Y; Ye, J; Zhang, HW, 2013) |
| "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) |
| "Methylmalonic aciduria and homocystinuria is a very rare inborn error of cellular cobalamin (Cbl) metabolism." | 7.71 | [Neonatal onset methylmalonic aciduria and homocystinuria:Biochemical and clinical improvement with betaine therapy]. ( Aldana Gómez, J; Merinero Cortés, B; Nieto Conde, C; Reig Del Moral, C; Urbón Artero, A, 2002) |
| "PK-PD modelling allows recommendations for optimal dosage of betaine in the treatment of homocystinuria, that have the potential for improved patient compliance and both therapeutic and pharmacoeconomic benefit." | 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) |
| "To assess the ability of patients with homocystinuria due to cystathionine beta-synthase (CBS) deficiency to perform the reactions of the methionine transamination pathway, the concentrations of the products of this pathway were measured in plasma and urine." | 7.70 | Methionine transamination in patients with homocystinuria due to cystathionine beta-synthase deficiency. ( Boers, GH; Levy, HL; Mudd, SH; Tangerman, A; Wilcken, B, 2000) |
| "A patient with infantile onset methylmalonic aciduria and homocystinuria (Cbl-C mutant) is described." | 7.68 | Methylmalonic aciduria with homocystinuria: biochemical studies, treatment, and clinical course of a Cbl-C patient. ( Baumgartner, R; Briones, P; Campistol, J; Lluch, M; Maya, A; Pascual, P; Ribes, A; Rodes, M; Suormala, T; Vilaseca, MA, 1990) |
| "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) |
| "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) |
| "The use of hydroxocobalamin (OH-B12), betaine, carnitine, and folinic acid were studied in two children with the cobalamin C form of methylmalonic acidemia and homocystinuria." | 7.67 | Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria. ( Allen, RH; Bartholomew, DW; Batshaw, ML; Francomano, CA; Roe, CR; Rosenblatt, D; Valle, DL, 1988) |
| "In a 3-year-old mentally retarded girl with homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency among different therapeutic approaches only treatment with betaine (15-20 g/day) resulted in a satisfactory biochemical response." | 7.67 | Betaine in the treatment of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency. ( Bremer, HJ; Wendel, U, 1984) |
| "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) |
| "Betaine treatment restored normal spermine and spermidine levels but further increased 5'-methylthioadenosine." | 5.62 | Derangement of hepatic polyamine, folate, and methionine cycle metabolism in cystathionine beta-synthase-deficient homocystinuria in the presence and absence of treatment: Possible implications for pathogenesis. ( Jiang, H; Maclean, KN; Mclagan, BM; Phinney, WN; Roede, JR; Stabler, SP, 2021) |
| " Our findings are consistent with a relatively sharp threshold effect between severely elevated plasma homocysteine and thrombotic risk in HCU and indicate that the HO mouse model can serve as a useful tool for both testing novel treatment strategies and examining the optimal timing and dosing of betaine treatment with a view toward optimizing clinical outcome." | 5.38 | Long-term betaine therapy in a murine model of cystathionine beta-synthase deficient homocystinuria: decreased efficacy over time reveals a significant threshold effect between elevated homocysteine and thrombotic risk. ( Allen, RH; Greiner, LS; Jiang, H; Maclean, KN; Stabler, SP, 2012) |
| "l-Methionine is an essential amino acid and is required for protein synthesis, but it also plays a unique role in metabolism as S-adenosylmethionine, which is the primary methyl donor in metabolism." | 5.34 | Consideration of betaine and one-carbon sources of N5-methyltetrahydrofolate for use in homocystinuria and neural tube defects. ( Benevenga, NJ, 2007) |
| " We studied the pharmacokinetics of betaine and its metabolite dimethylglycine (DMG) in healthy subjects and in three patients with homocystinuria." | 5.10 | Pharmacokinetics of oral betaine in healthy subjects and patients with homocystinuria. ( Balkenhol, N; Hafner, D; Hohlfeld, T; Laryea, MD; Schwahn, BC; Wendel, U, 2003) |
| " However, there is robust evidence for the success of early treatment with diet, betaine and/or pyridoxine for CBS deficiency and good evidence for the success of early betaine treatment in severe MTHFR deficiency." | 4.91 | Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines. ( Baumgartner, MR; Blom, HJ; Huemer, M; Kožich, V; Merinero, B; Pasquini, E; Ribes, A; Rinaldo, P, 2015) |
| "Elevation of homocysteine is implicated in multiple medical conditions, including classical homocystinuria, a variety of remethylation disorders, and most recently in coronary artery disease." | 4.83 | The use of betaine in the treatment of elevated homocysteine. ( Lawson-Yuen, A; Levy, HL, 2006) |
| "Albeit effective, methionine/protein restriction in the management of classical homocystinuria (HCU) is suboptimal and hard to follow." | 3.96 | Interplay of Enzyme Therapy and Dietary Management of Murine Homocystinuria. ( Bublil, EM; Glavin, F; Majtan, T; Park, I, 2020) |
| "The homocystinurias, caused by defects of remethylation and cystathionine-beta-synthase (CBS) deficiency, are characterized by elevated homocysteine and abnormal methionine levels." | 3.96 | Laboratory evaluation of homocysteine remethylation disorders and classic homocystinuria: Long-term follow-up using a cohort of 123 patients. ( Asamoah, A; De Biase, I; Gherasim, C; La'ulu, SL; Longo, N; Yuzyuk, T, 2020) |
| "The Registry of Adult and Paediatric Patients Treated with Cystadane® - Homocystinuria (RoCH) is a non-interventional, observational, multi-centre, post-authorization safety study that aimed to identify safety of betaine anhydrous (Cystadane®) in the treatment of patients with inborn errors of homocysteine metabolism (homocystinuria) in order to minimise the treatment associated risks and establish better knowledge on its clinical use." | 3.91 | Betaine anhydrous in homocystinuria: results from the RoCH registry. ( Aldamiz-Echevarria, L; Brunet, D; Cano, A; Cathebras, P; Couce, ML; Dalmau, J; Damaj, L; Dobbelaere, D; Eyer, D; García-Cazorla, A; Gay, C; Guffon, N; Hiéronimus, S; Levrat, V; Maillot, F; Martinez-Pardo Casanova, M; Nadjar, Y; Peña-Quintana, L; Rigalleau, V; Schiff, M; Touati, G; Valayannopoulos, V, 2019) |
| "Patients with combined methylmalonic acidemia and homocystinuria respond to a combined treatment consisting of supplementation of hydroxycobalamin, betaine, folic acid, vitamin B6 and L-carnitine with clinical and biochemical improvement." | 3.79 | [Outcomes of patients with combined methylmalonic acidemia and homocystinuria after treatment]. ( Gao, XL; Gu, XF; Han, LS; Huang, Z; Ji, WJ; Li, XY; Qiu, WJ; Wang, Y; Ye, J; Zhang, HW, 2013) |
| "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) |
| " The findings of the present study suggest that it is necessary to follow a low methionine diet that keeps serum Met within the normal range when treating patients with homocystinuria due to CBS deficiency when Bet is administered." | 3.72 | Limited effectiveness of betaine therapy for cystathionine beta synthase deficiency. ( Sakamoto, A; Sakura, N, 2003) |
| "PK-PD modelling allows recommendations for optimal dosage of betaine in the treatment of homocystinuria, that have the potential for improved patient compliance and both therapeutic and pharmacoeconomic benefit." | 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) |
| "Methylmalonic aciduria and homocystinuria is a very rare inborn error of cellular cobalamin (Cbl) metabolism." | 3.71 | [Neonatal onset methylmalonic aciduria and homocystinuria:Biochemical and clinical improvement with betaine therapy]. ( Aldana Gómez, J; Merinero Cortés, B; Nieto Conde, C; Reig Del Moral, C; Urbón Artero, A, 2002) |
| "Methylenetetrahydrofolate reductase deficiency is the most common inborn error of folate metabolism and should be suspected when homocystinuria is combined with hypomethioninemia." | 3.70 | Methylenetetrahydrofolate reductase deficiency: importance of early diagnosis. ( Bassan, H; Fattal-Valevski, A; Gutman, A; Harel, S; Korman, SH; Lerman-Sagie, T, 2000) |
| "To assess the ability of patients with homocystinuria due to cystathionine beta-synthase (CBS) deficiency to perform the reactions of the methionine transamination pathway, the concentrations of the products of this pathway were measured in plasma and urine." | 3.70 | Methionine transamination in patients with homocystinuria due to cystathionine beta-synthase deficiency. ( Boers, GH; Levy, HL; Mudd, SH; Tangerman, A; Wilcken, B, 2000) |
| "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) |
| "A patient with infantile onset methylmalonic aciduria and homocystinuria (Cbl-C mutant) is described." | 3.68 | Methylmalonic aciduria with homocystinuria: biochemical studies, treatment, and clinical course of a Cbl-C patient. ( Baumgartner, R; Briones, P; Campistol, J; Lluch, M; Maya, A; Pascual, P; Ribes, A; Rodes, M; Suormala, T; Vilaseca, MA, 1990) |
| "In a 3-year-old mentally retarded girl with homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency among different therapeutic approaches only treatment with betaine (15-20 g/day) resulted in a satisfactory biochemical response." | 3.67 | Betaine in the treatment of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency. ( Bremer, HJ; Wendel, U, 1984) |
| "The use of hydroxocobalamin (OH-B12), betaine, carnitine, and folinic acid were studied in two children with the cobalamin C form of methylmalonic acidemia and homocystinuria." | 3.67 | Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria. ( Allen, RH; Bartholomew, DW; Batshaw, ML; Francomano, CA; Roe, CR; Rosenblatt, D; Valle, DL, 1988) |
| "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) |
| "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) |
| "Our analysis shows that there is no overt benefit to increasing betaine dosage higher than 100 mg/kg/day to lower tHcy concentrations in pnrCBS and cblC deficiencies." | 3.11 | Efficacy and pharmacokinetics of betaine in CBS and cblC deficiencies: a cross-over randomized controlled trial. ( Alberti, C; Benoist, JF; de Baulny, HO; Feillet, F; Garcia-Segarra, N; Guilmin-Crépon, S; Haignere, J; Imbard, A; Kaguelidou, F; Kuster, A; Magréault, S; Perronneau, I; Schiff, M; Schlemmer, D; Toumazi, A, 2022) |
| "Homocystinuria is a disorder of sulfur metabolism pathway caused by deficiency of cystathionine β-synthase (CBS)." | 2.53 | Homocystinuria: Therapeutic approach. ( Kumar, T; Sharma, GS; Singh, LR, 2016) |
| "Among 13 patients who exhibited spastic paraplegia as the main manifestation, 11 patients carried c." | 1.72 | Late-onset cblC deficiency around puberty: a retrospective study of the clinical characteristics, diagnosis, and treatment. ( Chen, Z; Dong, H; He, R; Jin, Y; Kang, L; Li, D; Li, M; Liu, X; Liu, Y; Qi, J; Song, J; Wang, F; Xiao, H; Yan, H; Yang, Y; Zhang, Y; Zheng, H, 2022) |
| "Treatment with betaine, B12 and folic acid was started in four subjects with variable outcomes." | 1.72 | Variable neurological phenotypes of homocystinuria caused by biallelic methylenetetrahydrofolate reductase variants. ( Masih, S; Moirangthem, A; Nilay, M; Phadke, SR; Saxena, D; Shambhavi, A, 2022) |
| "Betaine treatment restored normal spermine and spermidine levels but further increased 5'-methylthioadenosine." | 1.62 | Derangement of hepatic polyamine, folate, and methionine cycle metabolism in cystathionine beta-synthase-deficient homocystinuria in the presence and absence of treatment: Possible implications for pathogenesis. ( Jiang, H; Maclean, KN; Mclagan, BM; Phinney, WN; Roede, JR; Stabler, SP, 2021) |
| "Dysbiosis has been described in some inborn errors of metabolism, but has not been investigated in HCU." | 1.56 | Is the gut microbiota dysbiotic in patients with classical homocystinuria? ( Colonetti, K; Dobbler, PT; Donis, KC; Leistner-Segal, S; Poloni, S; Rizowy, GM; Roesch, LFW; Schwartz, IVD, 2020) |
| "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) |
| "Betaine-treated Tg-I278T Cbs (-/-) mice also exhibited increased levels of betaine-dependent homocysteine methyl transferase (BHMT), increased levels of the lipogenic enzyme stearoyl-coenzyme A desaturase (SCD-1), and increased lipid droplet accumulation in the liver." | 1.43 | Betaine supplementation is less effective than methionine restriction in correcting phenotypes of CBS deficient mice. ( Gupta, S; Kruger, WD; Wang, L, 2016) |
| "The clinical features of untreated CBS deficiency include myopia, ectopia lentis, mental retardation, skeletal anomalies resembling Marfan syndrome, and thromboembolic events." | 1.42 | Successive MRI Findings of Reversible Cerebral White Matter Lesions in a Patient with Cystathionine β-Synthase Deficiency. ( Asano, T; Fukao, T; Kawamoto, M; Kawamoto, N; Kimura, T; Matsui, E; Sasai, H; Shimozawa, N; Yamamoto, T, 2015) |
| "Hereditary spastic paraplegia is a highly heterogeneous group of neurogenetic disorders with pure and complicated clinical phenotypes." | 1.40 | Severe methylenetetrahydrofolate reductase deficiency: clinical clues to a potentially treatable cause of adult-onset hereditary spastic paraplegia. ( Abramsky, O; Gal, A; Heyman, SN; Karp, N; Kohn, Y; Korman, SH; Leclerc, D; Lossos, A; Meiner, V; Milman, T; Newman, JP; Rosenblatt, DS; Rozen, R; Schwahn, BC; Shaag, A; Steiner-Birmanns, B; Teltsh, O; Watkins, D, 2014) |
| "Malignant hypertension was diagnosed." | 1.40 | Adult-onset eculizumab-resistant hemolytic uremic syndrome associated with cobalamin C deficiency. ( Benoist, JF; Cornec-Le Gall, E; De Parscau, L; Delmas, Y; Doucet, L; Fremeaux-Bacchi, V; Le Meur, Y; Ogier, H, 2014) |
| " Our findings are consistent with a relatively sharp threshold effect between severely elevated plasma homocysteine and thrombotic risk in HCU and indicate that the HO mouse model can serve as a useful tool for both testing novel treatment strategies and examining the optimal timing and dosing of betaine treatment with a view toward optimizing clinical outcome." | 1.38 | Long-term betaine therapy in a murine model of cystathionine beta-synthase deficient homocystinuria: decreased efficacy over time reveals a significant threshold effect between elevated homocysteine and thrombotic risk. ( Allen, RH; Greiner, LS; Jiang, H; Maclean, KN; Stabler, SP, 2012) |
| "l-Methionine is an essential amino acid and is required for protein synthesis, but it also plays a unique role in metabolism as S-adenosylmethionine, which is the primary methyl donor in metabolism." | 1.34 | Consideration of betaine and one-carbon sources of N5-methyltetrahydrofolate for use in homocystinuria and neural tube defects. ( Benevenga, NJ, 2007) |
| "The cblE type of homocystinuria is a rare autosomal recessive disorder caused by impaired reductive activation of methionine synthase." | 1.33 | cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression. ( Fowler, B; Gutsche, S; Hennermann, JB; Horneff, G; Kozich, V; Mueller, P; Novotna, Z; Suormala, T; Vilarinho, L; Vilaseca, MA; Wilichowski, E; Zavadáková, P; Zeman, J, 2005) |
| "Predominant clinical features include microcephaly, hydrocephalus, seizures, and white-matter changes on magnetic resonance imaging in early-onset cases." | 1.31 | Practical management of combined methylmalonicaciduria and homocystinuria. ( Bodamer, OA; Smith, DL, 2002) |
| "Early diagnosis and treatment of homocystinuria with methionine-free or low methionine formulae significantly improve prognosis in children found by newborn screening and treated soon after birth." | 1.31 | Betaine and homocysteine concentrations in infant formulae and breast milk. ( Mizoguchi, N; Ono, H; Sakamoto, A; Sakura, N, 2001) |
| "We conclude that the cerebral edema was most likely precipitated by the betaine therapy, although the exact mechanism is uncertain." | 1.31 | Progressive cerebral edema associated with high methionine levels and betaine therapy in a patient with cystathionine beta-synthase (CBS) deficiency. ( Allen, RH; Braverman, N; Geraghty, MT; Kashani, AH; Mudd, SH; Okoh, J; Pomper, M; Stabler, SP; Tangerman, A; Wagner, C; Yaghmai, R, 2002) |
| "Homocystinuria is a rare, inherited metabolic disease frequently associated with severe multisystemic involvement such as dislocated lenses, skeletal deformities, mental retardation, and premature vascular occlusion." | 1.30 | Homocystinuria presenting with portal vein thrombosis and pancreatic pseudocyst: a case report. ( Hong, HS; Kwon, KH; Lee, HK, 1997) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 12 (13.19) | 18.7374 |
| 1990's | 13 (14.29) | 18.2507 |
| 2000's | 26 (28.57) | 29.6817 |
| 2010's | 31 (34.07) | 24.3611 |
| 2020's | 9 (9.89) | 2.80 |
| Authors | Studies |
|---|---|
| Moirangthem, A | 1 |
| Saxena, D | 1 |
| Masih, S | 1 |
| Shambhavi, A | 1 |
| Nilay, M | 1 |
| Phadke, SR | 1 |
| Chen, Z | 2 |
| Dong, H | 1 |
| Liu, Y | 2 |
| He, R | 1 |
| Song, J | 1 |
| Jin, Y | 1 |
| Li, M | 1 |
| Liu, X | 2 |
| Yan, H | 1 |
| Qi, J | 1 |
| Wang, F | 1 |
| Xiao, H | 1 |
| Zheng, H | 1 |
| Kang, L | 1 |
| Li, D | 1 |
| Zhang, Y | 1 |
| Yang, Y | 1 |
| Imbard, A | 2 |
| Toumazi, A | 1 |
| Magréault, S | 1 |
| Garcia-Segarra, N | 1 |
| Schlemmer, D | 1 |
| Kaguelidou, F | 1 |
| Perronneau, I | 1 |
| Haignere, J | 1 |
| de Baulny, HO | 2 |
| Kuster, A | 1 |
| Feillet, F | 1 |
| Alberti, C | 1 |
| Guilmin-Crépon, S | 1 |
| Benoist, JF | 3 |
| Schiff, M | 5 |
| Nishimoto, E | 1 |
| Ito, Y | 1 |
| Sakakibara, T | 1 |
| Nishikubo, T | 1 |
| Rizowy, GM | 1 |
| Poloni, S | 1 |
| Colonetti, K | 1 |
| Donis, KC | 1 |
| Dobbler, PT | 1 |
| Leistner-Segal, S | 1 |
| Roesch, LFW | 1 |
| Schwartz, IVD | 1 |
| Vieira, D | 1 |
| Florindo, C | 1 |
| Tavares de Almeida, I | 1 |
| Macário, MC | 1 |
| Jaisson, S | 1 |
| Desmons, A | 1 |
| Braconnier, A | 1 |
| Wynckel, A | 1 |
| Rieu, P | 1 |
| Gillery, P | 1 |
| Garnotel, R | 1 |
| De Biase, I | 1 |
| Gherasim, C | 1 |
| La'ulu, SL | 1 |
| Asamoah, A | 1 |
| Longo, N | 1 |
| Yuzyuk, T | 1 |
| Park, I | 1 |
| Bublil, EM | 1 |
| Glavin, F | 1 |
| Majtan, T | 1 |
| Maclean, KN | 5 |
| Jiang, H | 5 |
| Phinney, WN | 2 |
| Mclagan, BM | 1 |
| Roede, JR | 1 |
| Stabler, SP | 6 |
| Liu, J | 1 |
| Peng, Y | 1 |
| Zhou, N | 1 |
| Meng, Q | 1 |
| Xu, H | 1 |
| Zhao, S | 1 |
| Prasun, P | 1 |
| Chapel-Crespo, C | 1 |
| Williamson, A | 1 |
| Chu, P | 1 |
| Oishi, K | 1 |
| Diaz, G | 1 |
| Keating, AK | 2 |
| Hurt, KJ | 1 |
| Valayannopoulos, V | 1 |
| Guffon, N | 1 |
| Nadjar, Y | 1 |
| García-Cazorla, A | 1 |
| Martinez-Pardo Casanova, M | 1 |
| Cano, A | 1 |
| Couce, ML | 1 |
| Dalmau, J | 1 |
| Peña-Quintana, L | 1 |
| Rigalleau, V | 1 |
| Touati, G | 1 |
| Aldamiz-Echevarria, L | 1 |
| Cathebras, P | 1 |
| Eyer, D | 1 |
| Brunet, D | 1 |
| Damaj, L | 1 |
| Dobbelaere, D | 2 |
| Gay, C | 1 |
| Hiéronimus, S | 1 |
| Levrat, V | 1 |
| Maillot, F | 2 |
| Huang, Z | 1 |
| Han, LS | 1 |
| Ye, J | 1 |
| Qiu, WJ | 1 |
| Zhang, HW | 1 |
| Gao, XL | 1 |
| Wang, Y | 1 |
| Ji, WJ | 1 |
| Li, XY | 1 |
| Gu, XF | 1 |
| Narayanan, D | 1 |
| Luvai, A | 1 |
| Barski, R | 1 |
| Sharma, R | 1 |
| Adam, S | 1 |
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| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| Betaine METABOLISM OF PATIENTS With Homocystinuria[NCT02404337] | Phase 2 | 12 participants (Actual) | Interventional | 2015-07-31 | Completed | ||
| 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 |
10 reviews available for betaine and CBS Deficiency
| Article | Year |
|---|---|
Survival and psychomotor development with early betaine treatment in patients with severe methylenetetrahydrofolate reductase deficiency.
Topics: Adolescent; Betaine; Child; Child, Preschool; Female; Homocystinuria; Humans; Infant; Infant, Newbor | 2014 |
Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.
Topics: Acetylcarnitine; Betaine; Carnitine; Homocystinuria; Humans; Infant, Newborn; Methionine; Methylatio | 2015 |
The effect of dietary modulation of sulfur amino acids on cystathionine β synthase-deficient mice.
Topics: Acetylcysteine; Amino Acids, Sulfur; Animals; Betaine; Cystathionine beta-Synthase; Diet; Dietary Su | 2016 |
Homocystinuria: Therapeutic approach.
Topics: Betaine; Cystathionine beta-Synthase; Homocystinuria; Humans; Hydrogen-Ion Concentration; Oxidative | 2016 |
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.
Topics: Betaine; Cystathionine beta-Synthase; Homocysteine; Homocystinuria; Humans; Methionine; Pyridoxine | 2017 |
Treatment of inherited homocystinurias.
Topics: Betaine; Diet; Homocystinuria; Humans | 2012 |
The use of betaine in the treatment of elevated homocysteine.
Topics: Amino Acid Metabolism, Inborn Errors; Betaine; Homocysteine; Homocystinuria; Humans; Hyperhomocystei | 2006 |
Evidence for alternative pathways of methionine catabolism.
Topics: Animals; Betaine; Carbon Dioxide; Choline; Decarboxylation; Diet; Homocystinuria; Humans; Liver; Met | 1984 |
Betaine therapy for homocystinuria.
Topics: Adult; Betaine; Child, Preschool; Female; Homocysteine; Homocystinuria; Humans; Male | 1984 |
Hyperhomocysteinaemia: a newly recognized risk factor for vascular disease.
Topics: Arteriosclerosis; Betaine; Coronary Disease; Folic Acid; Heterozygote; Homocysteine; Homocystinuria; | 1994 |
4 trials available for betaine and CBS Deficiency
| Article | Year |
|---|---|
Efficacy and pharmacokinetics of betaine in CBS and cblC deficiencies: a cross-over randomized controlled trial.
Topics: Betaine; Child; Cystathionine beta-Synthase; Homocysteine; Homocystinuria; Humans; Methionine; Prosp | 2022 |
Pharmacokinetics of oral betaine in healthy subjects and patients with homocystinuria.
Topics: Administration, Oral; Adult; Betaine; Female; Homocystinuria; Humans; Male; Sarcosine | 2003 |
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 |
77 other studies available for betaine and CBS Deficiency
| Article | Year |
|---|---|
Variable neurological phenotypes of homocystinuria caused by biallelic methylenetetrahydrofolate reductase variants.
Topics: Betaine; Homocystinuria; Humans; Methylenetetrahydrofolate Reductase (NADPH2); Muscle Spasticity; Ne | 2022 |
Late-onset cblC deficiency around puberty: a retrospective study of the clinical characteristics, diagnosis, and treatment.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Betaine; Carnitine; Child; Female; Homocyst | 2022 |
Early treatment using betaine and methionine for a neonate with MTHFR deficiency.
Topics: Betaine; Homocysteine; Homocystinuria; Humans; Infant; Infant, Newborn; Japan; Male; Methionine; Met | 2019 |
Is the gut microbiota dysbiotic in patients with classical homocystinuria?
Topics: Adolescent; Adult; Betaine; Case-Control Studies; Dietary Supplements; Dysbiosis; Female; Gastrointe | 2020 |
Adult-onset methylenetetrahydrofolate reductase deficiency.
Topics: Age of Onset; Betaine; Dysarthria; Folic Acid; Gait Ataxia; Homocystinuria; Humans; Male; Methylenet | 2020 |
An unusually high plasma concentration of homocysteine resulting from a combination of so-called "secondary" etiologies.
Topics: Aged; Betaine; Female; Homocysteine; Homocystinuria; Humans; Hyperhomocysteinemia; Leucovorin; Methy | 2020 |
Laboratory evaluation of homocysteine remethylation disorders and classic homocystinuria: Long-term follow-up using a cohort of 123 patients.
Topics: Betaine; Cystathionine beta-Synthase; Follow-Up Studies; Homocysteine; Homocystinuria; Humans; Labor | 2020 |
Interplay of Enzyme Therapy and Dietary Management of Murine Homocystinuria.
Topics: Animals; Betaine; Cystathionine beta-Synthase; Enzyme Therapy; Female; Homocysteine; Homocystinuria; | 2020 |
Derangement of hepatic polyamine, folate, and methionine cycle metabolism in cystathionine beta-synthase-deficient homocystinuria in the presence and absence of treatment: Possible implications for pathogenesis.
Topics: Adenosylhomocysteinase; Animals; Betaine; Cystathionine beta-Synthase; Disease Models, Animal; Folic | 2021 |
Combined methylmalonic acidemia and homocysteinemia presenting predominantly with late-onset diffuse lung disease: a case series of four patients.
Topics: Betaine; Child; Child, Preschool; Female; Folic Acid; Homocystinuria; Humans; Infant; Lung Diseases; | 2017 |
Skin lesions in a patient with Cobalamin C disease in poor metabolic control.
Topics: Betaine; Biopsy; Child; Drug Therapy, Combination; Homocystinuria; Humans; Injections; Leucovorin; M | 2018 |
Taurine alleviates repression of betaine-homocysteine
Topics: Animals; Betaine; Betaine-Homocysteine S-Methyltransferase; Disease Models, Animal; Homocystinuria; | 2019 |
Betaine anhydrous in homocystinuria: results from the RoCH registry.
Topics: Adolescent; Adult; Betaine; Child; Child, Preschool; Female; France; Homocysteine; Homocystinuria; H | 2019 |
[Outcomes of patients with combined methylmalonic acidemia and homocystinuria after treatment].
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Betaine; Carnitine; Child; Child, Preschool | 2013 |
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 |
Adult-onset eculizumab-resistant hemolytic uremic syndrome associated with cobalamin C deficiency.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Antibodies, Monoclonal, Humanized; Betaine; Biopsy; Car | 2014 |
Methylation and gene expression responses to ethanol feeding and betaine supplementation in the cystathionine beta synthase-deficient mouse.
Topics: Animals; Betaine; Dietary Supplements; DNA (Cytosine-5-)-Methyltransferase 1; DNA (Cytosine-5-)-Meth | 2014 |
Severe methylenetetrahydrofolate reductase deficiency: clinical clues to a potentially treatable cause of adult-onset hereditary spastic paraplegia.
Topics: Adult; Age of Onset; Aged; Betaine; Female; Homocystinuria; Humans; Lipotropic Agents; Magnetic Reso | 2014 |
Mouse model for deficiency of methionine synthase reductase exhibits short-term memory impairment and disturbances in brain choline metabolism.
Topics: Acetylcholinesterase; Animals; Apoptosis; Betaine; Cerebellum; Choline; Choline O-Acetyltransferase; | 2014 |
Severe 5,10-methylenetetrahydrofolate reductase deficiency and two MTHFR variants in an adolescent with progressive myoclonic epilepsy.
Topics: Adolescent; Betaine; Female; Folic Acid; Homocystinuria; Humans; Lipotropic Agents; Methionine; Meth | 2014 |
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.
Topics: Ataxia; Betaine; Child; Female; Folic Acid; Genetic Association Studies; Homocystinuria; Humans; Int | 2016 |
High homocysteine induces betaine depletion.
Topics: Animals; Betaine; Betaine-Homocysteine S-Methyltransferase; Carrier Proteins; Disease Models, Animal | 2015 |
Betaine supplementation is less effective than methionine restriction in correcting phenotypes of CBS deficient mice.
Topics: Animals; Betaine; Bone Density; Cystathionine beta-Synthase; Diet; Dietary Supplements; Disease Mode | 2016 |
Successive MRI Findings of Reversible Cerebral White Matter Lesions in a Patient with Cystathionine β-Synthase Deficiency.
Topics: Betaine; Brain; Brain Edema; Cell Membrane; Diet, Protein-Restricted; Diffusion Magnetic Resonance I | 2015 |
Vision of correction for classic homocystinuria.
Topics: Animals; Betaine; Cystathionine beta-Synthase; Disease Models, Animal; Homocystinuria; Humans; Mice; | 2016 |
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 |
Long follow up of betaine therapy in two Japanese siblings with cystathionine beta-synthase deficiency.
Topics: Adolescent; Betaine; Cystathionine beta-Synthase; Female; Gastrointestinal Agents; Homocysteine; Hom | 2008 |
Betaine anhydrous: new drug. Homocystinuria: continued evaluation needed.
Topics: Betaine; Drug Approval; Europe; Homocystinuria; Humans; Orphan Drug Production | 2009 |
Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency.
Topics: Adolescent; Adult; Betaine; Child, Preschool; Fatal Outcome; Female; Homocystinuria; Humans; Infant; | 2010 |
Restoring assembly and activity of cystathionine β-synthase mutants by ligands and chemical chaperones.
Topics: Alleles; Aminolevulinic Acid; Betaine; Cystathionine beta-Synthase; Escherichia coli; Glycerol; Homo | 2011 |
Constitutive induction of pro-inflammatory and chemotactic cytokines in cystathionine beta-synthase deficient homocystinuria.
Topics: Adolescent; Adult; Animals; Betaine; Chemokine CCL4; Chemokines; Child; Child, Preschool; Cystathion | 2011 |
Long-term betaine therapy in a murine model of cystathionine beta-synthase deficient homocystinuria: decreased efficacy over time reveals a significant threshold effect between elevated homocysteine and thrombotic risk.
Topics: Animals; Betaine; Betaine-Homocysteine S-Methyltransferase; Blood Coagulation; Cystathionine beta-Sy | 2012 |
Altered expression of apoA-I, apoA-IV and PON-1 activity in CBS deficient homocystinuria in the presence and absence of treatment: possible implications for cardiovascular outcomes.
Topics: Adolescent; Adult; Animals; Apolipoprotein A-I; Apolipoproteins A; Aryldialkylphosphatase; Betaine; | 2012 |
Low dietary folate and methylenetetrahydrofolate reductase deficiency may lead to pregnancy complications through modulation of ApoAI and IFN-γ in spleen and placenta, and through reduction of methylation potential.
Topics: Animals; Apolipoprotein A-I; Betaine; Choline; Diet; Female; Folic Acid; Folic Acid Deficiency; Homo | 2013 |
Practical management of combined methylmalonicaciduria and homocystinuria.
Topics: Adolescent; Adult; Betaine; Carnitine; Child; Child, Preschool; Female; Folic Acid; Gastrointestinal | 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 |
Betaine. Monograph.
Topics: Betaine; Cardiovascular Diseases; Fatty Liver; Homocysteine; Homocystinuria; Humans; Hyperhomocystei | 2003 |
Limited effectiveness of betaine therapy for cystathionine beta synthase deficiency.
Topics: Betaine; Child, Preschool; Chromatography, High Pressure Liquid; Female; Follow-Up Studies; Homocyst | 2003 |
Cerebral edema associated with betaine treatment in classical homocystinuria.
Topics: Betaine; Brain Edema; Child, Preschool; Craniotomy; Cystathionine beta-Synthase; Decompression, Surg | 2004 |
Betaine rescue of an animal model with methylenetetrahydrofolate reductase deficiency.
Topics: Animals; Animals, Suckling; Betaine; Body Weight; Brain; Disease Models, Animal; Female; Genotype; H | 2004 |
Two successful pregnancies in pyridoxine-nonresponsive homocystinuria.
Topics: Abortion, Spontaneous; Adult; Anticoagulants; Betaine; Diet, Protein-Restricted; Female; Gastrointes | 2004 |
Folate-induced reversal of leukoencephalopathy and intellectual decline in methylene-tetrahydrofolate reductase deficiency: variable response in siblings.
Topics: Activities of Daily Living; Adolescent; Adult; Betaine; Brain; Drug Therapy, Combination; Female; Fo | 2005 |
cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression.
Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Amino Acid Substitution; Betaine; Brain; | 2005 |
Maculopathy and retinal degeneration in cobalamin C methylmalonic aciduria and homocystinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Betaine; Cobamides; Female; Homocysteine; Homocystinuria; Huma | 2005 |
[Untreated homocystinuria in adulthood].
Topics: Adult; Age Factors; Angina Pectoris; Betaine; Diagnosis, Differential; Drug Therapy, Combination; Fo | 2005 |
Successful treatment of pyridoxine-unresponsive homocystinuria with betaine in pregnancy.
Topics: Adult; Betaine; Female; Gastrointestinal Agents; Homocystinuria; Humans; Pregnancy; Pregnancy Compli | 2006 |
Consideration of betaine and one-carbon sources of N5-methyltetrahydrofolate for use in homocystinuria and neural tube defects.
Topics: Betaine; Dietary Supplements; Folic Acid; Homocysteine; Homocystinuria; Humans; Methionine; Methylat | 2007 |
Hemolytic uremic syndrome (HUS) secondary to cobalamin C (cblC) disorder.
Topics: Acute Kidney Injury; Betaine; Brain Diseases, Metabolic, Inborn; Carnitine; Carrier Proteins; Combin | 2007 |
Dietary treatment of homocystinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Betaine; Child, Preschool; Diet Therapy; Female; Folic Acid; G | 1967 |
Betaine in the treatment of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency.
Topics: 5,10-Methylenetetrahydrofolate Reductase (FADH2); Alcohol Oxidoreductases; Betaine; Child, Preschool | 1984 |
Betaine in the treatment of homocystinuria.
Topics: Betaine; Homocystinuria; Humans | 1984 |
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 |
The use of betaine for the treatment of homocystinuria.
Topics: Administration, Oral; Adult; Betaine; Child; Female; Folic Acid; Homocystine; Homocystinuria; Humans | 1981 |
Methylgenesis from betaine in cystathionine-beta-synthase deficiency.
Topics: Adolescent; Adult; Betaine; Child; Child, Preschool; Cystathionine gamma-Lyase; Homocystinuria; Huma | 1993 |
Simultaneous determination of betaine and N,N-dimethylglycine in urine.
Topics: Betaine; Child, Preschool; Chromatography, High Pressure Liquid; Homocystinuria; Humans; Reproducibi | 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 |
Human homocysteine catabolism: three major pathways and their relevance to development of arterial occlusive disease.
Topics: Arterial Occlusive Diseases; Betaine; Homocysteine; Homocystinuria; Humans; Male; Serine | 1996 |
Betaine for homocystinuria.
Topics: Arteriosclerosis; Betaine; Diarrhea; Gastrointestinal Diseases; Homocysteine; Homocystinuria; Humans | 1997 |
Homocystinuria presenting with portal vein thrombosis and pancreatic pseudocyst: a case report.
Topics: Angiography; Anti-Bacterial Agents; Antithrombins; Betaine; Child; Drainage; Drug Therapy, Combinati | 1997 |
Betaine dose and treatment intervals in therapy for homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency.
Topics: 5,10-Methylenetetrahydrofolate Reductase (FADH2); Adult; Betaine; Dose-Response Relationship, Drug; | 1998 |
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 |
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 |
Tissue factor pathway inhibitor levels in patients with homocystinuria.
Topics: Adult; Betaine; Biomarkers; Cystathionine beta-Synthase; Endothelium; Factor VII; Female; Fibrinolyt | 2000 |
Methionine transamination in patients with homocystinuria due to cystathionine beta-synthase deficiency.
Topics: Adolescent; Adult; Aged; Amination; Betaine; Child; Child, Preschool; Cystathionine beta-Synthase; F | 2000 |
Methylenetetrahydrofolate reductase deficiency: importance of early diagnosis.
Topics: Betaine; Child, Preschool; Diagnosis, Differential; Fatal Outcome; Fibroblasts; Folic Acid; Hematini | 2000 |
Betaine and homocysteine concentrations in infant formulae and breast milk.
Topics: Animals; Betaine; Female; Homocysteine; Homocystinuria; Humans; Infant; Infant Food; Milk; Milk, Hum | 2001 |
Progressive cerebral edema associated with high methionine levels and betaine therapy in a patient with cystathionine beta-synthase (CBS) deficiency.
Topics: Betaine; Brain Edema; Child; Child, Preschool; Female; Homocystinuria; Humans; Infant; Infant, Newbo | 2002 |
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 |
[Neonatal onset methylmalonic aciduria and homocystinuria:Biochemical and clinical improvement with betaine therapy].
Topics: Administration, Oral; Age Factors; Betaine; Gastrointestinal Agents; Homocystinuria; Humans; Infant; | 2002 |
Gas chromatographic assay for N,N-dimethylglycine in urine.
Topics: Betaine; Chromatography, Gas; Gas Chromatography-Mass Spectrometry; Homocystinuria; Humans; Hypergly | 1990 |
Methylmalonic aciduria with homocystinuria: biochemical studies, treatment, and clinical course of a Cbl-C patient.
Topics: Betaine; Child, Preschool; Female; Homocystinuria; Humans; Infant; Male; Malonates; Metabolism, Inbo | 1990 |
Betaine for treatment of homocystinuria caused by methylenetetrahydrofolate reductase deficiency.
Topics: 5,10-Methylenetetrahydrofolate Reductase (FADH2); Betaine; Female; Homocystine; Homocystinuria; Huma | 1989 |
Free and protein-bound homocysteine and cysteine in cystathionine beta-synthase deficiency: interrelations during short- and long-term changes in plasma concentrations.
Topics: Adult; Betaine; Blood Proteins; Cystathionine beta-Synthase; Cysteine; Homocysteine; Homocystinuria; | 1989 |
Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria.
Topics: Administration, Oral; Amino Acid Metabolism, Inborn Errors; Betaine; Carnitine; Child, Preschool; Fe | 1988 |
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 |