-
1
-
-
0032521543
-
Homozygous cystathionine beta-synthase deficiency, combined with factor V Leiden or thermolabile methylenetetrahydrofolate reductase in the risk of venous thrombosis
-
Kluijtmans LA, Boers GH, Verbruggen B et al. (1998) Homozygous cystathionine beta-synthase deficiency, combined with factor V Leiden or thermolabile methylenetetrahydrofolate reductase in the risk of venous thrombosis. Blood 91:2015-2018
-
(1998)
Blood
, vol.91
, pp. 2015-2018
-
-
Kluijtmans, L.A.1
Boers, G.H.2
Verbruggen, B.3
-
2
-
-
77953558673
-
The clinical aspects of cystathionine B-synthase deficiency: How wide is the spectrum? Italian Collaborative Study Group on Homocystinuria
-
De Franchis R, Sperandeo MP, Sebastio G, Andria G (1998) The clinical aspects of cystathionine B-synthase deficiency: how wide is the spectrum? Italian Collaborative Study Group on Homocystinuria. Eur J Pediatr 157:867-870
-
(1998)
Eur J Pediatr
, vol.157
, pp. 867-870
-
-
De Franchis, R.1
Sperandeo, M.P.2
Sebastio, G.3
Ria, G.4
-
3
-
-
0021894152
-
The natural history of homocystinuria due to cystathionine R-synthase deficiency
-
Mudd SH, Skovby F, Levy HL et al. (1985) The natural history of homocystinuria due to cystathionine R-synthase deficiency. Am J Hum Genet 37:1-31
-
(1985)
Am J Hum Genet
, vol.37
, pp. 1-31
-
-
Mudd, S.H.1
Skovby, F.2
Levy, H.L.3
-
4
-
-
71649116022
-
A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency
-
Skovby F, Gaustadnes M, Mudd SH (2010) A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency. Mol Genet Metab 99:1-3
-
(2010)
Mol Genet Metab
, vol.99
, pp. 1-3
-
-
Skovby, F.1
Gaustadnes, M.2
Mudd, S.H.3
-
5
-
-
0036689371
-
Reproductive fitness in maternal homocystinuria due to cystathionine beta-synthase deficiency
-
Levy HL, Vargas JE, Waisbren SE et al. (2002) Reproductive fitness in maternal homocystinuria due to cystathionine beta-synthase deficiency. J Inherit Metab Dis 25:299-314
-
(2002)
J Inherit Metab Dis
, vol.25
, pp. 299-314
-
-
Levy, H.L.1
Vargas, J.E.2
Waisbren, S.E.3
-
6
-
-
0022262196
-
Recent advances in the mechanism of pyridoxine- responsive disorders
-
Fowler B (1985) Recent advances in the mechanism of pyridoxine- responsive disorders. J Inherit Metab Dis 8 [Suppl 1]:76-83
-
(1985)
J Inherit Metab Dis
, vol.8
, pp. 76-83
-
-
Fowler, B.1
-
7
-
-
64049095638
-
The pathophysiological hypothesis of homocysteine thiolactone-mediated vascular disease
-
Jakubowski H (2008) The pathophysiological hypothesis of homocysteine thiolactone-mediated vascular disease. J Physiol Pharmacol. 59 (S9)155-167
-
(2008)
J Physiol Pharmacol
, vol.59
, pp. 155-167
-
-
Jakubowski, H.1
-
8
-
-
0028937163
-
Mice deficient in cystathionine beta-synthase: Animal models for mild and severe homocyst(e)inemia
-
Watanabe M, Osada J, Aratani Y et al. (1995) Mice deficient in cystathionine beta-synthase: animal models for mild and severe homocyst(e)inemia Proc Natl Acad Sci U S A 92:1585-1589
-
(1995)
Proc Natl Acad Sci U S A
, vol.92
, pp. 1585-1589
-
-
Watanabe, M.1
Osada, J.2
Aratani, Y.3
-
9
-
-
3142749051
-
Cystathionine beta-synthase: Structure, function, regulation, and location of homocystinuria-causing mutations
-
Miles EW, Kraus JP (2004) Cystathionine beta-synthase: structure, function, regulation, and location of homocystinuria-causing mutations. J Biol Chem 279:29871-29874
-
(2004)
J Biol Chem
, vol.279
, pp. 29871-29874
-
-
Miles, E.W.1
Kraus, J.P.2
-
10
-
-
0029852838
-
A 68 bp insertion found in a homocystinuric patient is a common variant and is skipped by alternative splicing of the cystathionine β-synthase mRNA
-
Sperandeo MP, de Franchis R, Andria G, Sebastio G (1996) A 68 bp insertion found in a homocystinuric patient is a common variant and is skipped by alternative splicing of the cystathionine β-synthase mRNA. Am J Hum Genet 59:1391-1393
-
(1996)
Am J Hum Genet
, vol.59
, pp. 1391-1393
-
-
Sperandeo, M.P.1
De Franchis, R.2
Ria, G.3
Sebastio, G.4
-
11
-
-
0037110456
-
Regulation of 3’ splice site selection in the 844ins68 polymorphism of the cystathionine beta-synthase gene
-
Romano M, Marcucci R, Buratti E et al. (2002) Regulation of 3’ splice site selection in the 844ins68 polymorphism of the cystathionine beta-synthase gene. J Biol Chem 277:43821-43829
-
(2002)
J Biol Chem
, vol.277
, pp. 43821-43829
-
-
Romano, M.1
Marcucci, R.2
Buratti, E.3
-
12
-
-
9144225352
-
Facts and recommendations about total homocysteine determinations: An expert opinion
-
Refsum H, Smith AD, Ueland PM et al. (2004) Facts and recommendations about total homocysteine determinations: an expert opinion. Clin Chem 50:3-32
-
(2004)
Clin Chem
, vol.50
, pp. 3-32
-
-
Refsum, H.1
Smith, A.D.2
Ueland, P.M.3
-
13
-
-
0032750462
-
Reduction of false negative results in screening of newborns for homocystinuria
-
Peterschmitt MJ, Simmons JR, Levy HL (1999) Reduction of false negative results in screening of newborns for homocystinuria. N Engl J Med 341:1572-1576
-
(1999)
N Engl J Med
, vol.341
, pp. 1572-1576
-
-
Peterschmitt, M.J.1
Simmons, J.R.2
Levy, H.L.3
-
14
-
-
77049123198
-
Newborn population screening for classic homocystinuria by determination of total homocysteine from Guthrie cards
-
Gan-Schreier H, Kebbewar M, Fang-Hoffmann J et al. (2010) Newborn population screening for classic homocystinuria by determination of total homocysteine from Guthrie cards. J Pediatr 156:427-432
-
(2010)
J Pediatr
, vol.156
, pp. 427-432
-
-
Gan-Schreier, H.1
Kebbewar, M.2
Fang-Hoffmann, J.3
-
16
-
-
0028917268
-
Hyperhomocysteinemia in premature arterial disease: Examination of cystathionine beta-synthase alleles at the molecular level
-
Kozich V, Kraus E, de Franchis R et al. (1995) Hyperhomocysteinemia in premature arterial disease: examination of cystathionine beta-synthase alleles at the molecular level. Hum Mol Genet 4:623-629
-
(1995)
Hum Mol Genet
, vol.4
, pp. 623-629
-
-
Kozich, V.1
Kraus, E.2
De Franchis, R.3
-
17
-
-
18244379372
-
Progressive cerebral edema associated with high methionine levels and betaine therapy in a patient with cystathionine beta-synthase (CBS) deficiency
-
Yaghmai R, Kashani AH, Geraghty MT et al. (2002) Progressive cerebral edema associated with high methionine levels and betaine therapy in a patient with cystathionine beta-synthase (CBS) deficiency. Am J Med Genet 108:57-63
-
(2002)
Am J Med Genet
, vol.108
, pp. 57-63
-
-
Yaghmai, R.1
Kashani, A.H.2
Geraghty, M.T.3
-
18
-
-
0034828509
-
The intellectual abilities of early-treated individuals with pyridoxine-nonresponsive homocystinuria due to cystathionine beta-synthase deficiency
-
Yap S, Rushe H, Howard PM, Naughten ER (2001) The intellectual abilities of early-treated individuals with pyridoxine-nonresponsive homocystinuria due to cystathionine beta-synthase deficiency. J Inherit Metab Dis 24:437-447
-
(2001)
J Inherit Metab Dis
, vol.24
, pp. 437-447
-
-
Yap, S.1
Rushe, H.2
Howard, P.M.3
Naughten, E.R.4
-
19
-
-
0038497517
-
Classical homocystinuria: Vascular risk and its prevention
-
Yap S (2003) Classical homocystinuria: vascular risk and its prevention. J Inherit Metab Dis 26:259-265
-
(2003)
J Inherit Metab Dis
, vol.26
, pp. 259-265
-
-
Yap, S.1
-
20
-
-
77952368285
-
Rescue of cystathionine beta-synthase (CBS) mutants with chemical chaperones: Purification and characterization of eight CBS mutant enzymes
-
Majtan T, Liu L, Carpenter JF, Kraus JP (2010) Rescue of cystathionine beta-synthase (CBS) mutants with chemical chaperones: purification and characterization of eight CBS mutant enzymes. J Biol Chem 285:15866-15873
-
(2010)
J Biol Chem
, vol.285
, pp. 15866-15873
-
-
Majtan, T.1
Liu, L.2
Carpenter, J.F.3
Kraus, J.P.4
-
21
-
-
77954134566
-
Restoring assembly and activity of cystathionine beta-synthase mutants by ligands and chemical chaperones
-
Kopecka J, Krijt J, Rakova K, Kožich V (2010) Restoring assembly and activity of cystathionine beta-synthase mutants by ligands and chemical chaperones. J Inherit Metab Dis 34:39-48
-
(2010)
J Inherit Metab Dis
, vol.34
, pp. 39-48
-
-
Kopecka, J.1
Krijt, J.2
Rakova, K.3
Kožich, V.4
-
22
-
-
76749160942
-
Kruger WD (2010) Activation of mutant enzyme function in vivo by proteasome inhibitors and treatments that induce Hsp70
-
Singh LR, Gupta S, Honig NH, Kraus JP, Kruger WD (2010) Activation of mutant enzyme function in vivo by proteasome inhibitors and treatments that induce Hsp70. PLoS Genet 2010 6:e1000807
-
(2010)
Plos Genet
, vol.6
-
-
Singh, L.R.1
Gupta, S.2
Honig, N.H.3
Kraus, J.P.4
-
23
-
-
0034535031
-
Isolated hypermethioninemia: Measurements of S-adenosylmethionine and choline
-
Mudd SH, Jenden DJ, Capdevila A et al. (2000) Isolated hypermethioninemia: measurements of S-adenosylmethionine and choline. Metabolism 49:1542-1547
-
(2000)
Metabolism
, vol.49
, pp. 1542-1547
-
-
Mudd, S.H.1
Jenden, D.J.2
Capdevila, A.3
-
24
-
-
69449103947
-
Inherited disorders in the conversion of methionine to homocysteine
-
Barić I (2009) Inherited disorders in the conversion of methionine to homocysteine. J Inherit Metab Dis 32:459-471
-
(2009)
J Inherit Metab Dis
, vol.32
, pp. 459-471
-
-
Barić, I.1
-
25
-
-
0036975282
-
Methionine adenosyltransferase I/III deficiency: Two Korean compound heterozygous siblings with a novel mutation
-
Kim SZ, Santamaria E, Jeong TE et al. (2002) Methionine adenosyltransferase I/III deficiency: two Korean compound heterozygous siblings with a novel mutation. J Inherit Metab Dis 25:661-671
-
(2002)
J Inherit Metab Dis
, vol.25
, pp. 661-671
-
-
Kim, S.Z.1
Santamaria, E.2
Jeong, T.E.3
-
26
-
-
0031020197
-
Dominant inheritance of isolated hypermethioninemia is associated with a mutation in the human methionine adenosyltransferase 1A gene
-
Chamberlin ME, Ubagai T, Mudd SH et al. (1997) Dominant inheritance of isolated hypermethioninemia is associated with a mutation in the human methionine adenosyltransferase 1A gene. Am J Hum Genet 60:540-546
-
(1997)
Am J Hum Genet
, vol.60
, pp. 540-546
-
-
Chamberlin, M.E.1
Ubagai, T.2
Mudd, S.H.3
-
27
-
-
31644449016
-
Methionine adenosyltransferase (MAT) I/III deficiency with concurrent hyperhomocysteinaemia: Two novel cases
-
Linnebank M, Lagler F, Muntau AC et al. (2005) Methionine adenosyltransferase (MAT) I/III deficiency with concurrent hyperhomocysteinaemia: two novel cases. J Inherit Metab Dis 28:1167-1168
-
(2005)
J Inherit Metab Dis
, vol.28
, pp. 1167-1168
-
-
Linnebank, M.1
Lagler, F.2
Muntau, A.C.3
-
28
-
-
0029788238
-
Demyelination of the brain is associated with methionine adenosyltransferase I/III deficiency
-
Chamberlin ME, Ubagai T, Mudd SH et al. (1996) Demyelination of the brain is associated with methionine adenosyltransferase I/III deficiency. J Clin Invest 98:1021-1027
-
(1996)
J Clin Invest
, vol.98
, pp. 1021-1027
-
-
Chamberlin, M.E.1
Ubagai, T.2
Mudd, S.H.3
-
29
-
-
0032477711
-
Normal brain myelination in a patient homozygous for a mutation that encodes a severely truncated methionine adenosyltransferase I/III
-
Hazelwood S, Barnardini I, Shotelersuk V et al. (1998) Normal brain myelination in a patient homozygous for a mutation that encodes a severely truncated methionine adenosyltransferase I/III. Am J Med Genet 75:395-400
-
(1998)
Am J Med Genet
, vol.75
, pp. 395-400
-
-
Hazelwood, S.1
Barnardini, I.2
Shotelersuk, V.3
-
30
-
-
0042329126
-
Maternal methionine adenosyltransferase I/III deficiency: Reproductive outcomes in a woman with four pregnancies
-
Mudd SH, Tangerman A, Stabler SP et al. (2003) Maternal methionine adenosyltransferase I/III deficiency: reproductive outcomes in a woman with four pregnancies. J Inherit Metab Dis 26:443-458
-
(2003)
J Inherit Metab Dis
, vol.26
, pp. 443-458
-
-
Mudd, S.H.1
Tangerman, A.2
Stabler, S.P.3
-
31
-
-
0034827802
-
Glycine N-methyltransferase deficiency: A novel inborn error causing persistent isolated hypermethioninaemia
-
Mudd SH, Cerone R, Schiaffino MC et al. (2001) Glycine N-methyltransferase deficiency: a novel inborn error causing persistent isolated hypermethioninaemia. J Inherit Metab Dis 24:448-464
-
(2001)
J Inherit Metab Dis
, vol.24
, pp. 448-464
-
-
Mudd, S.H.1
Cerone, R.2
Schiaffino, M.C.3
-
32
-
-
0942298956
-
Glycine N-methyltransferase deficiency: A new patient with a novel mutation
-
Augoustides-Savvopoulou P, Luka Z, Karyda S et al. (2003) Glycine N-methyltransferase deficiency: a new patient with a novel mutation. J Inherit Metab Dis 26:745-759
-
(2003)
J Inherit Metab Dis
, vol.26
, pp. 745-759
-
-
Augoustides-Savvopoulou, P.1
Luka, Z.2
Karyda, S.3
-
33
-
-
0036461162
-
Mutations in human glycine N-methyltransferase give insights into its role in methionine metabolism
-
Luka Z, Cerone R, Phillips JA 3rd et al. (2002) Mutations in human glycine N-methyltransferase give insights into its role in methionine metabolism. Hum Genet 110:68-74
-
(2002)
Hum Genet
, vol.110
, pp. 68-74
-
-
Luka, Z.1
Cerone, R.2
Phillips, J.A.3
-
34
-
-
36349011287
-
Glycine N-methyltransferase-/- mice develop chronic hepatitis and glycogen storage disease in the liver
-
Liu SP, Li YS, Chen YJ et al. (2007) Glycine N-methyltransferase-/- mice develop chronic hepatitis and glycogen storage disease in the liver. Hepatology 46:1413-1425
-
(2007)
Hepatology
, vol.46
, pp. 1413-1425
-
-
Liu, S.P.1
Li, Y.S.2
Chen, Y.J.3
-
35
-
-
12144286157
-
S
-
Baric I, Fumic K, Glenn B et al. (2004) S-Adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism. Proc Natl Acad Sci USA 101:4234-4239
-
(2004)
Proc Natl Acad Sci USA
, vol.101
, pp. 4234-4239
-
-
Baric, I.1
Fumic, K.2
Glenn, B.3
-
36
-
-
67649635646
-
Cystathionine gammalyase: Clinical, metabolic, genetic, and structural studies
-
Kraus JP, Hasek J, Kozich V et al. (2009) Cystathionine gammalyase: clinical, metabolic, genetic, and structural studies. Mol Genet Metab 97:250-259
-
(2009)
Mol Genet Metab
, vol.97
, pp. 250-259
-
-
Kraus, J.P.1
Hasek, J.2
Kozich, V.3
-
37
-
-
77956194462
-
Cystathionine {gamma}-lyase-deficient mice require dietary cysteine to protect against acute lethal myopathy and oxidative injury
-
Ishii I, Akahoshi N, Yamada H et al. (2010) Cystathionine {gamma}-lyase-deficient mice require dietary cysteine to protect against acute lethal myopathy and oxidative injury. J Biol Chem 285:26358-26368
-
(2010)
J Biol Chem
, vol.285
, pp. 26358-26368
-
-
Ishii, I.1
Akahoshi, N.2
Yamada, H.3
-
38
-
-
0027067067
-
Cloning and nucleotide sequence of human liver cDNA encoding for cystathionine gamma-lyase
-
Lu Y, Odowd BF, Orrego H, Israel Y (1992) Cloning and nucleotide sequence of human liver cDNA encoding for cystathionine gamma-lyase. Biochem Biophys Res Commun 189:749-758
-
(1992)
Biochem Biophys Res Commun
, vol.189
, pp. 749-758
-
-
Lu, Y.1
Odowd, B.F.2
Orrego, H.3
Israel, Y.4
-
39
-
-
0038147273
-
Genomic basis of cystathioninuria (MIM 219500) revealed by multiple mutations in cystathionine γ-lyase (CTH)
-
Wang J, Hegele RA (2003) Genomic basis of cystathioninuria (MIM 219500) revealed by multiple mutations in cystathionine γ-lyase (CTH). Hum Genet 112:404-408
-
(2003)
Hum Genet
, vol.112
, pp. 404-408
-
-
Wang, J.1
Hegele, R.A.2
-
40
-
-
0020441660
-
Transsulphuration and methylation of homocysteine in control and mutant human fibroblasts
-
Fowler B (1982) Transsulphuration and methylation of homocysteine in control and mutant human fibroblasts. Biochim Biophys Acta 721:201-207
-
(1982)
Biochim Biophys Acta
, vol.721
, pp. 201-207
-
-
Fowler, B.1
-
41
-
-
33644625000
-
Isolated sulfite oxidase deficiency: A case report with a novel mutation and review of the literature
-
Tan WH, Eichler FS, Hoda S et al. (2005) Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature. Pediatrics 116:757-766
-
(2005)
Pediatrics
, vol.116
, pp. 757-766
-
-
Tan, W.H.1
Eichler, F.S.2
Hoda, S.3
-
43
-
-
0032568532
-
Human sulfite oxidase Rl60Q: Identification of the mutation in a sulfite oxidasedeficient patient and expression of the mutant enzyme
-
Garrett RM, Johnson JL, Graf TN et al. (1998) Human sulfite oxidase Rl60Q: identification of the mutation in a sulfite oxidasedeficient patient and expression of the mutant enzyme. Proc Natl Acad Sci USA 95:6394-6398
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 6394-6398
-
-
Garrett, R.M.1
Johnson, J.L.2
Graf, T.N.3
-
44
-
-
17144439627
-
Isolated sulfite oxidase deficiency: Identification of 12 novel SUOX mutations in 10 patients
-
Johnson JL, Coyne KE, Garrett RM et al. (2002) Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients. Hum Mutat 20:74
-
(2002)
Hum Mutat
, vol.20
, pp. 74
-
-
Johnson, J.L.1
Coyne, K.E.2
Garrett, R.M.3
-
45
-
-
1942469923
-
New approaches towards laboratory diagnosis of isolated sulphite oxidase deficiency
-
Sass JO, Nakanishi T, Sato T, Shimizu A (2004) New approaches towards laboratory diagnosis of isolated sulphite oxidase deficiency. Ann Clin Biochem 41:157–159
-
(2004)
Ann Clin Biochem
, vol.41
, pp. 157-159
-
-
Sass, J.O.1
Nakanishi, T.2
Sato, T.3
Shimizu, A.4
-
46
-
-
0033983433
-
Dietary therapy in two patients with a mild form of sulphite oxidase deficiency. Evidence for clinical and biological improvement
-
Touati G, Rusthoven E, Depondt E et al. (2000) Dietary therapy in two patients with a mild form of sulphite oxidase deficiency. Evidence for clinical and biological improvement. J Inherit Metab Dis 23:45-53
-
(2000)
J Inherit Metab Dis
, vol.23
, pp. 45-53
-
-
Touati, G.1
Rusthoven, E.2
Depondt, E.3
|