pyridoxine and Homocystinuria 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).

Homocystinuria: Autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979)

Research Excerpts

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)

Research

Studies (184)

Authors

Clinical Trials (1)

Trial Overview

Trial Outcomes

Urinary Oxalate Excretion

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
Morris, AA	1
Santra, S	1
Andria, G	3
Ben-Omran, TI	1
Chakrapani, AB	1
Crushell, E	1
Henderson, MJ	1
Hochuli, M	1
Janssen, MC	1
Maillot, F	1
Mayne, PD	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

Article	Year
Cystathionine β-synthase deficiency: Of mice and men. Molecular genetics and metabolism, 2017, Volume: 121, Issue:3 Topics: Animals; Animals, Newborn; Cystathionine beta-Synthase; Disease Models, Animal; Genotype; Homocystei	2017
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency. Journal of inherited metabolic disease, 2017, Volume: 40, Issue:1 Topics: Betaine; Cystathionine beta-Synthase; Homocysteine; Homocystinuria; Humans; Methionine; Pyridoxine	2017
Pyridoxine-responsive homocystinuria. Nutrition reviews, 1981, Volume: 39, Issue:1 Topics: Adolescent; Animals; Cystathionine beta-Synthase; Homocystinuria; Humans; Male; Pyridoxine	1981
Hyperhomocysteinaemia: a newly recognized risk factor for vascular disease. The Netherlands journal of medicine, 1994, Volume: 45, Issue:1 Topics: Arteriosclerosis; Betaine; Coronary Disease; Folic Acid; Heterozygote; Homocysteine; Homocystinuria;	1994
Homocysteine and coronary atherosclerosis. Journal of the American College of Cardiology, 1996, Mar-01, Volume: 27, Issue:3 Topics: Coronary Artery Disease; Folic Acid; Homocysteine; Homocystinuria; Humans; Pyridoxine; Risk Factors;	1996
B vitamins and homocysteine in cardiovascular disease and aging. Annals of the New York Academy of Sciences, 1998, Nov-20, Volume: 854 Topics: Aging; Cardiovascular Diseases; Diet; Folic Acid; Folic Acid Deficiency; Homocysteine; Homocystinuri	1998
Hyperhomocysteinemia, atherosclerosis and thrombosis. Thrombosis and haemostasis, 1999, Volume: 81, Issue:2 Topics: Adult; Aged; Animals; Arteriosclerosis; Avitaminosis; Case-Control Studies; Clinical Trials as Topic	1999
[Homocysteine and cardiovascular risk]. Revue medicale de Liege, 1999, Volume: 54, Issue:6 Topics: Arteriosclerosis; Cardiovascular Diseases; Folic Acid; Homocystinuria; Humans; Hyperhomocysteinemia;	1999
[Molecular basis of vitamin-responsive inborn errors of metabolism]. Nihon rinsho. Japanese journal of clinical medicine, 1999, Volume: 57, Issue:10 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. Seminars in thrombosis and hemostasis, 2000, Volume: 26, Issue:3 Topics: Adolescent; Adult; Aged; Australia; Child; Child, Preschool; Cohort Studies; Cystine; Drug Resistanc	2000
[Homocystinuria]. Ryoikibetsu shokogun shirizu, 2000, Issue:29 Pt 4 Topics: Central Nervous System Diseases; Diagnosis, Differential; Homocystinuria; Humans; Infant, Newborn; I	2000
The dietary therapy of inherited metabolic disease. Progress in food & nutrition science, 1975, Volume: 1, Issue:7-8 Topics: Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors; Child; C	1975
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The usefulness of pyridoxine in the treatment of homocystinuria: a review of postulated mechanisms of action and a new hypothesis. Birth defects original article series, 1976, Volume: 12, Issue:3 Topics: Cystathionine beta-Synthase; Homeostasis; Homocystinuria; Humans; Methionine; Pyridoxine	1976
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Article	Year
Vascular outcome in patients with homocystinuria due to cystathionine beta-synthase deficiency treated chronically: a multicenter observational study. Arteriosclerosis, thrombosis, and vascular biology, 2001, Volume: 21, Issue:12 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. Journal of inherited metabolic disease, 1988, Volume: 11, Issue:3 Topics: Adolescent; Adult; Amino Acids; Betaine; Child; Female; Homocystine; Homocystinuria; Humans; Male; M	1988

Article	Year
Pyridoxine non-responsive p.R336C mutation alters the molecular properties of cystathionine beta-synthase leading to severe homocystinuria phenotype. Biochimica et biophysica acta. General subjects, 2022, Volume: 1866, Issue:7 Topics: Cystathionine beta-Synthase; Homocystinuria; Humans; Mutation; Phenotype; Pyridoxine	2022
[Clinical characteristics and CBS gene analysis of 13 cases with classic homocystinuria]. Zhonghua er ke za zhi = Chinese journal of pediatrics, 2022, Jun-02, Volume: 60, Issue:6 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. Nutrients, 2023, Jul-11, Volume: 15, Issue:14 Topics: Cystathionine; Cystathionine beta-Synthase; Diet, Protein-Restricted; Fruit; Homocysteine; Homocysti	2023
Classical homocystinuria presenting with transient basal ganglia pathology and dystonia. Journal of inherited metabolic disease, 2023, Volume: 46, Issue:6 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. American journal of medical genetics. Part A, 2020, Volume: 182, Issue:11 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. Journal of inherited metabolic disease, 2021, Volume: 44, Issue:3 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. BMC ophthalmology, 2021, May-13, Volume: 21, Issue:1 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. Molecular genetics & genomic medicine, 2018, Volume: 6, Issue:2 Topics: Adolescent; Adult; Alleles; Base Sequence; Biomarkers, Pharmacological; Brazil; Child; Cystathionine	2018
Classical Homocystinuria in a Juvenile Patient. Journal of the College of Physicians and Surgeons--Pakistan : JCPSP, 2018, Volume: 28, Issue:6 Topics: Child, Preschool; Chromatography, Ion Exchange; Cystathionine beta-Synthase; Folic Acid; Homocystein	2018
Regressive pyridoxine-induced sensory neuronopathy in a patient with homocystinuria. BMJ case reports, 2018, Jun-28, Volume: 2018 Topics: Adult; Ataxia; Dose-Response Relationship, Drug; Epilepsy; Female; Homocystinuria; Humans; Polyneuro	2018
Ectopia lentis in homocystinuria. Journal francais d'ophtalmologie, 2019, Volume: 42, Issue:2 Topics: Child, Preschool; Combined Modality Therapy; Diagnosis, Differential; Diet Therapy; Ectopia Lentis;	2019
Analysis of the Qatari R336C cystathionine β-synthase protein in mice. Journal of inherited metabolic disease, 2019, Volume: 42, Issue:5 Topics: Alleles; Animals; Bortezomib; Cystathionine beta-Synthase; DNA Mutational Analysis; Female; Homocyst	2019
Stroke in a young man. BMJ (Clinical research ed.), 2013, Jul-15, Volume: 347 Topics: Adult; Betaine; Cystathionine beta-Synthase; Diet, Protein-Restricted; Homocysteine; Homocystinuria;	2013
Dietary practices in pyridoxine non-responsive homocystinuria: a European survey. Molecular genetics and metabolism, 2013, Volume: 110, Issue:4 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. BMJ case reports, 2017, Jan-30, Volume: 2017 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. Thrombosis and haemostasis, 2010, Volume: 103, Issue:4 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. The Journal of biological chemistry, 2010, May-21, Volume: 285, Issue:21 Topics: Cystathionine beta-Synthase; Enzyme Stability; Escherichia coli; Escherichia coli Proteins; Homocyst	2010
CBS gene mutations found in a Chinese pyridoxine-responsive homocystinuria patient. Pathology, 2011, Volume: 43, Issue:1 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. Human mutation, 2002, Volume: 20, Issue:2 Topics: Adolescent; Adult; Australia; Blotting, Western; Child; Child, Preschool; Cystathionine beta-Synthas	2002
Plummeting lenses in the TB clinic. Lancet (London, England), 2002, Jul-13, Volume: 360, Issue:9327 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. Developmental medicine and child neurology, 2002, Volume: 44, Issue:7 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. British journal of clinical pharmacology, 2002, Volume: 54, Issue:2 Topics: Administration, Oral; Adolescent; Betaine; Child; Cystathionine beta-Synthase; Dose-Response Relatio	2002
Reproductive fitness in maternal homocystinuria due to cystathionine beta-synthase deficiency. Journal of inherited metabolic disease, 2002, Volume: 25, Issue:4 Topics: Adolescent; Adult; Amino Acids; Amino Acids, Sulfur; Child; Child, Preschool; Cystathionine beta-Syn	2002
Homocystinuria presenting as psychosis in an adolescent. Journal of child neurology, 2002, Volume: 17, Issue:11 Topics: Acute Disease; Adolescent; Antidepressive Agents; Antipsychotic Agents; Diagnosis, Differential; Hom	2002
Atypical BECTS and homocystinuria. Neurology, 2003, Oct-28, Volume: 61, Issue:8 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. Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus, 2004, Volume: 8, Issue:3 Topics: Adolescent; Adult; Astigmatism; Body Weights and Measures; Child; Cystathionine beta-Synthase; Diet,	2004
Homocystinuria: a rare cause of megaloblastic anemia. Indian pediatrics, 2004, Volume: 41, Issue:9 Topics: Anemia, Megaloblastic; Child; Drug Therapy, Combination; Folic Acid; Homocystinuria; Humans; Male; P	2004
Two successful pregnancies in pyridoxine-nonresponsive homocystinuria. Journal of inherited metabolic disease, 2004, Volume: 27, Issue:6 Topics: Abortion, Spontaneous; Adult; Anticoagulants; Betaine; Diet, Protein-Restricted; Female; Gastrointes	2004
Social outcome in treated individuals with inherited metabolic disorders: UK study. Journal of inherited metabolic disease, 2005, Volume: 28, Issue:6 Topics: Adolescent; Adult; Aged; Child; Employment; Female; Follow-Up Studies; Galactosemias; Homocystinuria	2005
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Successful treatment of pyridoxine-unresponsive homocystinuria with betaine in pregnancy. Journal of inherited metabolic disease, 2006, Volume: 29, Issue:5 Topics: Adult; Betaine; Female; Gastrointestinal Agents; Homocystinuria; Humans; Pregnancy; Pregnancy Compli	2006
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[Homocystinuria with unusual neurologic features including chorea: a case-report (author's transl)]. Annales de pediatrie, 1982, Volume: 29, Issue:3 Topics: Child; Chorea; Female; Homocystinuria; Humans; Methionine; Pyridoxine; Thrombosis	1982
The effect of D-penicillamine on protein-bound homocyst(e)ine in homocystinurics. Pediatric research, 1982, Volume: 16, Issue:5 Topics: Adolescent; Adult; Blood Proteins; Female; Homocysteine; Homocystine; Homocystinuria; Humans; Male;	1982
Kinetics and distribution of 111Indium-labeled platelets in patients with homocystinuria. The New England journal of medicine, 1982, Sep-23, Volume: 307, Issue:13 Topics: Adolescent; Adult; Blood Platelets; Homocystine; Homocystinuria; Humans; Indium; Kinetics; Middle Ag	1982
Methionine, pyridoxine and endothelial lesion in rats. Blood vessels, 1980, Volume: 17, Issue:2 Topics: Animals; Aspirin; Dose-Response Relationship, Drug; Drug Antagonism; Endothelium; Female; Homocystin	1980
The use of betaine for the treatment of homocystinuria. The Journal of pediatrics, 1981, Volume: 99, Issue:3 Topics: Administration, Oral; Adult; Betaine; Child; Female; Folic Acid; Homocystine; Homocystinuria; Humans	1981
[Homocystinuria. Histological and ultrastructural study. Report of a case (author's transl)]. Dermatologica, 1981, Volume: 163, Issue:1 Topics: Child; Connective Tissue; Hair Color; Homocystinuria; Humans; Male; Pyridoxine; Skin	1981
[Thromboembolic manifestations in a case of homocystinuria]. La Pediatria, 1981, Mar-31, Volume: 89, Issue:1 Topics: Adolescent; Homocystinuria; Humans; Male; Pyridoxine; Thromboembolism	1981
Mild elevations of plasma ornithine in homocystinuria. Clinica chimica acta; international journal of clinical chemistry, 1981, Nov-25, Volume: 117, Issue:1 Topics: Adolescent; Adult; Child; Child, Preschool; Female; Homocystinuria; Humans; Male; Methionine; Ornith	1981
Symptoms, diagnostic pitfalls, and treatment of homocystinuria in seven adult patients. The Netherlands journal of medicine, 1980, Volume: 23, Issue:2 Topics: Adult; Cyanides; Cystine; Female; Homocystine; Homocystinuria; Humans; Male; Methionine; Middle Aged	1980
Homocystinuria (cystathionine synthase deficiency). Results of treatment in late-diagnosed patients. European journal of pediatrics, 1980, Volume: 135, Issue:2 Topics: Adolescent; Adult; Age Factors; Child; Child, Preschool; Cystine; Endarteritis; Female; Homocystinur	1980
Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria. Human molecular genetics, 1993, Volume: 2, Issue:11 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. American journal of human genetics, 1995, Volume: 57, Issue:1 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. Journal of inherited metabolic disease, 1994, Volume: 17, Issue:6 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. Human molecular genetics, 1994, Volume: 3, Issue:10 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. Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis, 1994, Volume: 5, Issue:6 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. Human molecular genetics, 1994, Volume: 3, Issue:7 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]. Anales espanoles de pediatria, 1993, Volume: 39, Issue:1 Topics: Betaine; Child; Child, Preschool; Drug Evaluation; Female; Folic Acid; Homocysteine; Homocystinuria;	1993
Sensory neuropathy and vitamin B6 treatment in homocystinuria. European journal of pediatrics, 1993, Volume: 152, Issue:3 Topics: Adolescent; Adult; Dose-Response Relationship, Drug; Homocystinuria; Humans; Neural Conduction; Pyri	1993
Molecular and biochemical approaches in the identification of heterozygotes for homocystinuria. Atherosclerosis, 1996, Apr-26, Volume: 122, Issue:1 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. The Journal of clinical investigation, 1996, Jul-15, Volume: 98, Issue:2 Topics: Adult; Amino Acid Sequence; Asparagine; Aspartic Acid; Base Sequence; Cystathionine beta-Synthase; D	1996
Clinical and biochemical studies in homocystinuria. Indian pediatrics, 1995, Volume: 32, Issue:10 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. Human mutation, 1997, Volume: 9, Issue:1 Topics: Cells, Cultured; Cystathionine beta-Synthase; Fibroblasts; France; Homocystinuria; Humans; Mutation;	1997
Newborn screening for homocystinuria. Early human development, 1997, Apr-25, Volume: 48, Issue:1-2 Topics: Homocystine; Homocystinuria; Humans; Infant, Newborn; Methionine; Neonatal Screening; Pyridoxine; Re	1997
Homocystinuria with early thromboembolic episodes and rapid response to high dose pyridoxine. Indian pediatrics, 1997, Volume: 34, Issue:1 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. Human molecular genetics, 1997, Volume: 6, Issue:13 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. The journal of medical investigation : JMI, 1997, Volume: 44, Issue:1-2 Topics: Child; Cystathionine beta-Synthase; Drug Resistance; Female; Homocystinuria; Humans; Japan; Male; Me	1997
Spontaneous pneumothorax in association with pyridoxine-responsive homocystinuria. Journal of inherited metabolic disease, 1997, Volume: 20, Issue:6 Topics: Adolescent; Homocystine; Homocystinuria; Humans; Male; Marfan Syndrome; Methionine; Pneumothorax; Py	1997
Strategies for the treatment of cystathionine beta-synthase deficiency: the experience of the Willink Biochemical Genetics Unit over the past 30 years. European journal of pediatrics, 1998, Volume: 157 Suppl 2 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. Journal of inherited metabolic disease, 1998, Volume: 21, Issue:4 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. American journal of human genetics, 1999, Volume: 65, Issue:1 Topics: Adolescent; Adult; Betaine; Child; Child, Preschool; Cystathionine beta-Synthase; Female; Fibroblast	1999
Homocystinuria and psychiatric disorder: a case report. Pathology, 1999, Volume: 31, Issue:3 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. The journal of medical investigation : JMI, 1999, Volume: 46, Issue:3-4 Topics: Adolescent; Child; Cystathionine beta-Synthase; Escherichia coli; Female; Homocystinuria; Humans; Ma	1999
Tissue factor pathway inhibitor levels in patients with homocystinuria. Thrombosis research, 2000, Jun-01, Volume: 98, Issue:5 Topics: Adult; Betaine; Biomarkers; Cystathionine beta-Synthase; Endothelium; Factor VII; Female; Fibrinolyt	2000
Homocystinuria with congenital/developmental cataract. Indian journal of pediatrics, 2000, Volume: 67, Issue:10 Topics: Adult; Cataract; Child; Chromatography, Paper; Female; Homocystine; Homocystinuria; Humans; Male; Ma	2000
The intellectual abilities of early-treated individuals with pyridoxine-nonresponsive homocystinuria due to cystathionine beta-synthase deficiency. Journal of inherited metabolic disease, 2001, Volume: 24, Issue:4 Topics: Adolescent; Adult; Child; Child, Preschool; Cystathionine beta-Synthase; Cystine; Diet; Drug Resista	2001
Classic homocystinuria: clinical, biochemical and radiological observations, and therapeutic outcome of 24 Saudi patients. Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassit, 1999, Volume: 5, Issue:6 Topics: Betaine; Child; Child, Preschool; Combined Modality Therapy; Consanguinity; Drug Monitoring; Drug Th	1999
[Convulsive disorders in inborn errors of metabolism (author's transl)]. No to shinkei = Brain and nerve, 1979, Volume: 31, Issue:5 Topics: Electroencephalography; Gangliosidoses; Homocystinuria; Humans; Metabolism, Inborn Errors; Phenylket	1979
Approaches to the treatment of inborn errors of sulphur amino acid and peptide metabolism. Progress in clinical and biological research, 1979, Volume: 34 Topics: Amino Acids, Sulfur; Ascorbic Acid; Aspirin; Cysteamine; Cystinosis; Dipyridamole; Glutathione; Glut	1979
Homocystinuria and response to pyridoxine. Indian pediatrics, 1979, Volume: 16, Issue:11 Topics: Adolescent; Homocystinuria; Humans; Male; Pyridoxine	1979
Homocystinuria--response to pyridoxine therapy. The Journal of the Association of Physicians of India, 1979, Volume: 27, Issue:8 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. The Journal of clinical investigation, 1978, Volume: 61, Issue:3 Topics: Adolescent; Adult; Cell Line; Child; Child, Preschool; Cystathionine beta-Synthase; Female; Fibrobla	1978
Homocystinuria in New South Wales. Archives of disease in childhood, 1978, Volume: 53, Issue:3 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. Monographs in human genetics, 1978, Volume: 9 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. Pediatric research, 1977, Volume: 11, Issue:2 Topics: Coenzymes; Cystathionine beta-Synthase; Enzyme Activation; Female; Heterozygote; Homocystinuria; Hot	1977
Pregnancy and homocystinuria. Annals of clinical biochemistry, 1977, Volume: 14, Issue:3 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. Clinica chimica acta; international journal of clinical chemistry, 1977, Aug-15, Volume: 79, Issue:1 Topics: Cystathionine beta-Synthase; Cysteine; Cystine; Cystinuria; Disulfides; Female; Homocysteine; Homocy	1977
Free amino acids in liver of patients with homocystinuria due to cystathionine synthase deficiency: effects of vitamin B6. The Journal of pediatrics, 1977, Volume: 91, Issue:4 Topics: Amino Acids, Sulfur; Cystathionine beta-Synthase; Homocystinuria; Humans; Hydro-Lyases; Liver; Male;	1977
[Various clinical and therapeutic aspects of homocystinuria]. La Clinica terapeutica, 1977, Aug-31, Volume: 82, Issue:4 Topics: Folic Acid; Homocystinuria; Humans; Pyridoxine; Vitamin B 12	1977
[Thrombosis of intracraneal sinuses in homocystinuria (author's transl)]. Anales espanoles de pediatria, 1977, Volume: 10, Issue:3 Topics: Aspirin; Cerebral Angiography; Child, Preschool; Cranial Sinuses; Dipyridamole; Drug Therapy, Combin	1977
[Pyridoxine-sensitive homocystinuria]. Pediatriia, 1976, Issue:6 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. Clinica chimica acta; international journal of clinical chemistry, 1976, Nov-15, Volume: 73, Issue:1 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. The Journal of clinical investigation, 1975, Volume: 55, Issue:5 Topics: Adolescent; Adult; Amino Acids; Child; Cystathionine; Cystine; Diet; Female; Homocystinuria; Humans;	1975
Pyridoxine responsive and unresponsive homocystinuria. Journal of nutritional science and vitaminology, 1992, Volume: Spec No Topics: Base Sequence; Cells, Cultured; Cystathionine beta-Synthase; Genetic Testing; Homocystinuria; Humans	1992
[Vitamin B6 dependency syndrome]. Nihon rinsho. Japanese journal of clinical medicine, 1992, Volume: 50, Issue:7 Topics: Amino Acid Metabolism, Inborn Errors; Aspartate Aminotransferases; Cystathionine; Homocystinuria; Hu	1992
Cerebral infarction after caesarean section due to heterozygosity for homocystinuria; a case report. European journal of obstetrics, gynecology, and reproductive biology, 1991, Jul-25, Volume: 40, Issue:3 Topics: Adult; Cerebral Infarction; Cesarean Section; Female; Heterozygote; Homocystinuria; Humans; Pregnanc	1991
No sensory neuropathy during pyridoxine treatment in homocystinuria. Archives of disease in childhood, 1991, Volume: 66, Issue:9 Topics: Adolescent; Child; Child, Preschool; Drug Administration Schedule; Female; Homocystinuria; Humans; I	1991
Delayed diagnosis of homocystinuria in a myopic. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie, 1991, Volume: 229, Issue:1 Topics: Adult; Folic Acid; Homocystine; Homocystinuria; Humans; Male; Myopia; Pyridoxine	1991
Pyridoxine-unresponsive homocystinuria with an unusual clinical course. American journal of medical genetics, 1990, Volume: 35, Issue:4 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. Metabolism: clinical and experimental, 1989, Volume: 38, Issue:6 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. Haemostasis, 1989, Volume: 19 Suppl 1 Topics: Adolescent; Antithrombin III; Blood Coagulation Disorders; Child, Preschool; Female; Folic Acid; Hom	1989
Aspects of treatment of homocystinuria: an illustrative case report. The New Zealand medical journal, 1988, Jan-27, Volume: 101, Issue:838 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. American journal of medical genetics, 1987, Volume: 26, Issue:4 Topics: Cystathionine beta-Synthase; Depression; Homocystinuria; Humans; Hydro-Lyases; Intelligence; Mood Di	1987
Homocystinuria--an unusual cause of hemiplegia. The Journal of the Association of Physicians of India, 1986, Volume: 34, Issue:3 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. The Journal of pediatrics, 1986, Volume: 109, Issue:6 Topics: Adolescent; Amino Acids; Antithrombin III; Blood Coagulation; Child, Preschool; Factor VII; Factor X	1986
Homocystinuria--a cause for stroke in young. The Journal of the Association of Physicians of India, 1986, Volume: 34, Issue:8 Topics: Adult; Cerebrovascular Disorders; Homocystinuria; Humans; Male; Pyridoxine; Recurrence; Vertebrobasi	1986
Nutrition support of inborn errors of amino acid metabolism. International journal of bio-medical computing, 1985, Volume: 17, Issue:1 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. American journal of human genetics, 1985, Volume: 37, Issue:1 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. Metabolism: clinical and experimental, 1985, Volume: 34, Issue:12 Topics: Adolescent; Adult; Betaine; Child; Cystathionine beta-Synthase; Cysteine; Drug Therapy, Combination;	1985
Pyridoxine treatment in homocystinuria. Lancet (London, England), 1967, Nov-25, Volume: 2, Issue:7526 Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Diet Therapy; Dietary Proteins; Femal	1967
Treatment of homocystinuria with a low-methionine diet, supplemental cystine, and a methyl donor. Lancet (London, England), 1968, Aug-31, Volume: 2, Issue:7566 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Child, Preschool; Choline; Cys	1968
Pyridoxine-dependency in homocystinuria. Lancet (London, England), 1968, Dec-14, Volume: 2, Issue:7581 Topics: Homocystinuria; Humans; Hydro-Lyases; Pyridoxine	1968
Pyridoxine in homocystinuria. Lancet (London, England), 1969, Aug-02, Volume: 2, Issue:7614 Topics: Adolescent; Child; Female; Homocystinuria; Humans; Male; Pyridoxine	1969
Homocystinemia. Vascular injury and arterial thrombosis. The New England journal of medicine, 1974, Sep-12, Volume: 291, Issue:11 Topics: Adolescent; Adult; Animals; Blood Cell Count; Blood Coagulation; Blood Platelets; Blood Vessels; Dip	1974
Effect of pyridoxine treatment of a homocystinuric patient on the urinary excretion of some sulfur-containing amino acids. Acta medica Okayama, 1974, Volume: 28, Issue:4 Topics: Alanine; Amino Acids, Sulfur; Cystinuria; Disulfides; Homocysteine; Homocystine; Homocystinuria; Hum	1974
The effect of pyridoxine on platelet adhesiveness in homocystinuria. Neuropadiatrie, 1974, Volume: 5, Issue:4 Topics: Adolescent; Adult; Child; Female; Homocystine; Homocystinuria; Humans; Male; Methionine; Platelet Ad	1974
Variability of the urinary excretion of homocystine and inorganic sulfate in a patient with homocystinuria. The Johns Hopkins medical journal, 1972, Volume: 131, Issue:6 Topics: Child; Diet; Diet Therapy; Homocystine; Homocystinuria; Humans; Pyridoxine; Sulfates	1972
[Homocystinuria; experiences with therapy]. Maandschrift voor kindergeneeskunde, 1972, Volume: 40, Issue:8 Topics: Homocystinuria; Humans; Pyridoxine	1972
Homocystinuria. Reduced folate levels during pyridoxine treatment. Archives of disease in childhood, 1973, Volume: 48, Issue:1 Topics: Child; Child, Preschool; Cystine; Erythrocytes; Female; Folic Acid; Homocysteine; Homocystine; Homoc	1973
Tissue culture techniques as an aid to prenatal diagnosis and genetic counselling in homocystinuria. Journal of medical genetics, 1973, Volume: 10, Issue:2 Topics: Adult; Biopsy; Clinical Enzyme Tests; Culture Techniques; Cystathionine; Female; Fibroblasts; Geneti	1973
[Homocystinuria: clinical picture, therapy and results in 8 patients]. Deutsche medizinische Wochenschrift (1946), 1973, Jul-06, Volume: 98, Issue:27 Topics: Body Weight; Child; Child, Preschool; Cystine; Dietary Proteins; Female; Hair; Homocystine; Homocyst	1973
Homocystinuria: studies in tissue culture. Pediatric research, 1973, Volume: 7, Issue:7 Topics: Culture Techniques; Fibroblasts; Heterozygote; Homocysteine; Homocystine; Homocystinuria; Humans; Hy	1973
Pregnancy and homocystinuria. The Journal of obstetrics and gynaecology of the British Commonwealth, 1973, Volume: 80, Issue:7 Topics: Adult; Amnion; Blood Coagulation Tests; Cell Line; Cystine; Female; Fibroblasts; Folic Acid; Homocys	1973
High pyridoxine diet in the rat: possible implications for megavitamin therapy. The Journal of nutrition, 1973, Volume: 103, Issue:1 Topics: Adipose Tissue; Animal Nutritional Physiological Phenomena; Animals; Body Weight; Cell Count; Cystat	1973
[Pathogenesis of cerebral damage in homocystinuria]. Monatsschrift fur Kinderheilkunde, 1973, Volume: 121, Issue:7 Topics: Brain; Brain Diseases; Cerebrovascular Disorders; Child; Electroencephalography; Epilepsy; Female; H	1973
Homocystinuria: the first report in Thailand. Journal of the Medical Association of Thailand = Chotmaihet thangphaet, 1973, Volume: 56, Issue:9 Topics: Child; Consanguinity; Hair; Homocystinuria; Humans; Male; Pedigree; Pyridoxine; Thailand	1973
[Vitamin B 6 dependency]. Nihon rinsho. Japanese journal of clinical medicine, 1973, Aug-10, Volume: 31, Issue:8 Topics: Child; Cystathionine; Female; Homocystinuria; Humans; Infant; Male; Metabolism, Inborn Errors; Pyrid	1973
Homocystinuria due to cystathionine synthase deficiency: enzymatic and ultrastructural studies. The Journal of pediatrics, 1974, Volume: 84, Issue:3 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Biopsy, Needle; Child; Child, Preschool; Cy	1974
Homocystinuria due to cystathionine synthase deficiency: clinical-roentgenologic correlations. The American journal of roentgenology, radium therapy, and nuclear medicine, 1974, Volume: 121, Issue:1 Topics: Adult; Bone Diseases; Child; Child, Preschool; Cystathionine; Eye Manifestations; Female; Homocystin	1974
Investigations of coagulation and fibrinolysis in homocystinuria. Acta medica Scandinavica, 1974, Volume: 195, Issue:6 Topics: Adult; Blood Coagulation; Cystine; Diet; Factor V; Female; Fibrinogen; Fibrinolysis; Folic Acid; Hom	1974
Macromolecular basis for homocystein-induced changes in proteoglycan structure in growth and arteriosclerosis. The American journal of pathology, 1972, Volume: 66, Issue:1 Topics: Arteriosclerosis; Cell Line; Cells, Cultured; Contact Inhibition; Cytoplasmic Granules; Growth Hormo	1972
[Amino acid metabolism and mental retardation]. Die Medizinische Welt, 1972, Apr-15, Volume: 23, Issue:16 Topics: Diet Therapy; Female; Homocystinuria; Humans; Intellectual Disability; Intelligence; Male; Methionin	1972
Studies of the mechanism of pyridoxine-responsive homocystinuria. Pediatric research, 1972, Volume: 6, Issue:3 Topics: Adolescent; Cells, Cultured; Cystine; Cystinuria; Fibroblasts; Homocystine; Homocystinuria; Humans;	1972
Pyridoxine-dependent hair pigmentation in association with homocystinuria. The induction of melanotrichia. Archives of dermatology, 1972, Volume: 106, Issue:2 Topics: Adolescent; Female; Hair; Homocystinuria; Humans; Melanins; Melanocytes; Pigmentation Disorders; Pyr	1972
Homocystinuria, vitamin B 6 , and folate: metabolic interrelationships and clinical significance. The Journal of pediatrics, 1972, Volume: 81, Issue:5 Topics: Alcohol Oxidoreductases; Cystathionine; Folic Acid; Glycine; Homocystine; Homocystinuria; Humans; L-	1972
Combined vitamin responsiveness in homocystinuria. The Journal of pediatrics, 1972, Volume: 81, Issue:5 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. Thrombosis et diathesis haemorrhagica, 1971, Aug-31, Volume: 26, Issue:1 Topics: Adenine Nucleotides; Blood Platelet Disorders; Child; Diet Therapy; Dietary Proteins; Homocystinuria	1971
[Homocystinuria in Central Europe. Results of a survey]. Deutsche medizinische Wochenschrift (1946), 1971, Nov-05, Volume: 96, Issue:45 Topics: Austria; Child; Child, Preschool; Cystine; Diet Therapy; Germany, East; Germany, West; Homocystinuri	1971
Ectopia lentis due to homocystinuria. Birth defects original article series, 1971, Volume: 7, Issue:3 Topics: Adolescent; Child; Diagnosis, Differential; Female; Hemorrhage; Homocystinuria; Humans; Lens, Crysta	1971
Homocystinuria: the significance of its successful treatment. Transactions of the ophthalmological societies of the United Kingdom, 1969, Volume: 88 Topics: Adolescent; Adult; Amino Acids; Child; Child, Preschool; Diet Therapy; Erythrocytes; Female; Hair; H	1969
Homocystinuria. Proceedings of the Royal Society of Medicine, 1970, Volume: 63, Issue:1 Topics: Cardiovascular Diseases; Child; Child, Preschool; Diet Therapy; Eye Diseases; Folic Acid; Homocystin	1970
An unusual case of homocystinuria. The British journal of ophthalmology, 1970, Volume: 54, Issue:4 Topics: Child; Eye Manifestations; Homocystinuria; Humans; Joint Diseases; Knee Joint; Lens, Crystalline; Ma	1970
Recent clinical advances in the treatment of neurological diseases. Pediatric clinics of North America, 1970, Volume: 17, Issue:2 Topics: Brain Diseases; Child, Preschool; Chronic Disease; Cystine; Diet Therapy; Dopamine; Folic Acid; Homo	1970
Homocystinuria due to cystathionine synthase deficiency: the effect of pyridoxine. The Journal of clinical investigation, 1970, Volume: 49, Issue:9 Topics: Adult; Aldehydes; Autoanalysis; Carbon Isotopes; Chromatography; Cysteine; Diet; Diet Therapy; Enzym	1970
Homocystinuria. Response to pyridoxine. Neurology, 1970, Volume: 20, Issue:5 Topics: Adolescent; Child; Child, Preschool; Chromatography, Ion Exchange; Electroencephalography; Female; H	1970
Pyridoxine-unresponsive homocystinuria. The New England journal of medicine, 1970, Nov-26, Volume: 283, Issue:22 Topics: Adult; Autopsy; Carotid Arteries; Child; Child, Preschool; Homocystine; Homocystinuria; Humans; L-Se	1970
[Pepper type neuroblastoma with homocystinuria. Diagnosis, biochemistry and therapy]. Helvetica paediatrica acta, 1970, Volume: 25, Issue:5 Topics: Amino Acids; Catecholamines; Child, Preschool; Cyclophosphamide; Dopamine; Homocystinuria; Humans; L	1970
Homocystinuria. Report of two cases in siblings. Indian journal of pediatrics, 1970, Volume: 37, Issue:269 Topics: Child; Cystine; Diet Therapy; Female; Folic Acid; Homocystinuria; Humans; Intellectual Disability; L	1970
A case of homocystinuria with a dystonic neurological syndrome. Neuropadiatrie, 1970, Volume: 1, Issue:3 Topics: Adolescent; Cystine; Extrapyramidal Tracts; Folic Acid; Homocystine; Homocystinuria; Humans; Male; M	1970
Management of patients with homocystinuria requiring surgery under general anaesthesia. A case report. British journal of anaesthesia, 1971, Volume: 43, Issue:1 Topics: Anesthesia, Dental; Anesthesia, General; Child; Dental Restoration, Permanent; Homocystine; Homocyst	1971
Vitamin B6 dependency in homocystinuria. British medical journal, 1971, Aug-26, Volume: 3, Issue:5773 Topics: Adolescent; Adult; Homocystinuria; Humans; Hydro-Lyases; Liver; Male; Pyridoxine	1971
A hypothesis on the homocystinuric's response to pyridoxine. Metabolism: clinical and experimental, 1968, Volume: 17, Issue:9 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Chemistry, Clinical; Cysteine; Homocystinuria; Hum	1968
Homocystinuria as affected by pyridoxine, folic acid, and vitamin B12. Proceedings of the Society for Experimental Biology and Medicine. Society for Experimental Biology and Medicine (New York, N.Y.), 1968, Volume: 129, Issue:2 Topics: Adolescent; Child; Diet; Female; Folic Acid; Homocystinuria; Humans; Hydro-Lyases; Liver; Male; Meth	1968
Biochemical response to oral pyridoxine in homocystinuria. Archives of disease in childhood, 1968, Volume: 43, Issue:232 Topics: Homocysteine; Homocystinuria; Humans; Pyridoxine	1968
Biochemical and therapeutic studies in two cases of homocystinuria. Clinical science, 1968, Volume: 35, Issue:3 Topics: Amino Acids; Child; Child, Preschool; Chromatography, Paper; Diet Therapy; Female; Homocystinuria; H	1968
Homocystinuria of vitamin B6 dependent type. The Tohoku journal of experimental medicine, 1968, Volume: 96, Issue:3 Topics: Amino Acids; Aspartate Aminotransferases; Child; Child, Preschool; Chromatography, Thin Layer; Elect	1968
Psychiatric and biochemical aspects of a case of homocystinuria. Journal of neurology, neurosurgery, and psychiatry, 1969, Volume: 32, Issue:2 Topics: Adult; Cystine; Female; Homocystinuria; Humans; Male; Mental Disorders; Methionine; Middle Aged; Ped	1969
Treatment of homocystinuria with pyridoxine. A preliminary study. Archives of disease in childhood, 1969, Volume: 44, Issue:235 Topics: Adolescent; Adult; Aminobutyrates; Child; Child, Preschool; Cystine; Female; Folic Acid; Folic Acid	1969
Homocystinuria: vitamin B6 dependent or not? Annals of internal medicine, 1969, Volume: 71, Issue:1 Topics: Homocystinuria; Humans; Pyridoxine	1969
The successful treatment of homocystinuria with pyridoxine. The Journal of pediatrics, 1969, Volume: 75, Issue:3 Topics: Adolescent; Adult; Amino Acids; Blood Platelets; Child; Child, Preschool; Erythrocytes; Female; Hair	1969
Treatment of hemocystinuria. Developmental medicine and child neurology, 1969, Volume: 11, Issue:4 Topics: Child; Diet Therapy; Homocystinuria; Humans; Pyridoxine	1969

pyridoxine and Homocystinuria