Classical homocysteinuria is an autosomal recessive disorder caused by cystathionine beta-synthase deficiency which is encoded by the CBS gene.
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None (1996) Nutritional ecogenetics: homocysteine-related arteriosclerotic vascular disease, neural tube defects, and folic acid. |
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None (1998) Ocular complications and a new surgical approach to lens dislocation in homocystinuria due to cystathionine-beta-synthetase deficiency. |
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None (1982) The nature of the ocular zonule. |
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None (1967) Dietary treatment of homocystinuria. |
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None (1969) Homocystinuria: vitamin B6 dependent or not? |
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None (1968) Activation of Hageman factor by L-homocystine. |
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Wong PW et al. (1968) The biosynthesis of cystathionine in patients with homocystinuria. |
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Elsaid MF et al. () Are heterocygotes for classical homocystinuria at risk of vitamin B12 and folic acid deficiency? |
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None (1959) Renal abnormalities in the Marfan syndrome. |
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SCHIMKE RN et al. (1965) HOMOCYSTINURIA. STUDIES OF 20 FAMILIES WITH 38 AFFECTED MEMBERS. |
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36. |
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38. |
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39. |
Yaghmai R et al. (2002) Progressive cerebral edema associated with high methionine levels and betaine therapy in a patient with cystathionine beta-synthase (CBS) deficiency. |
40. |
Schnyder G et al. (2001) Decreased rate of coronary restenosis after lowering of plasma homocysteine levels. |
41. |
Yap S et al. (2001) The intellectual abilities of early-treated individuals with pyridoxine-nonresponsive homocystinuria due to cystathionine beta-synthase deficiency. |
42. |
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43. |
Guttormsen AB et al. (2001) Disposition of homocysteine in subjects heterozygous for homocystinuria due to cystathionine beta-synthase deficiency: relationship between genotype and phenotype. |
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Peterschmitt MJ et al. (1999) Reduction of false negative results in screening of newborns for homocystinuria. |
45. |
Chao CL et al. (1999) The graded effect of hyperhomocysteinemia on the severity and extent of coronary atherosclerosis. |
46. |
Gallagher PM et al. (1998) Characterization of mutations in the cystathionine beta-synthase gene in Irish patients with homocystinuria. |
48. |
Harrison DA et al. (1998) Management of ophthalmic complications of homocystinuria. |
49. |
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51. |
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52. |
Mudd SH et al. (1969) A derangement in B 12 metabolism leading to homocystinemia, cystathioninemia and methylmalonic aciduria. |
53. |
Testai FD et al. (2010) Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders. |
54. |
Urreizti R et al. (2006) The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America. |
55. |
Lee SJ et al. (2005) Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria. |
56. |
Wang L et al. (2005) Expression of mutant human cystathionine beta-synthase rescues neonatal lethality but not homocystinuria in a mouse model. |
57. |
Kruger WD et al. (2003) Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype. |
58. |
Kelly PJ et al. (2003) Stroke in young patients with hyperhomocysteinemia due to cystathionine beta-synthase deficiency. |
59. |
Maclean KN et al. (2002) High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations. |
60. |
Janosík M et al. (2001) Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria. |
61. |
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62. |
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63. |
Kraus JP et al. (1999) Cystathionine beta-synthase mutations in homocystinuria. |
64. |
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65. |
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66. |
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67. |
None (1994) Komrower Lecture. Molecular basis of phenotype expression in homocystinuria. |
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71. |
Hu FL et al. (1993) Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria. |
72. |
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74. |
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76. |
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Mudd SH et al. (1970) Homocystinuria due to cystathionine synthase deficiency: the effect of pyridoxine. |
79. |
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80. |
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81. |
Harker LA et al. (1974) Homocystinemia. Vascular injury and arterial thrombosis. |
82. |
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83. |
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84. |
None (1985) Vascular disease and homocysteine metabolism. |
85. |
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87. |
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88. |
Mudd SH et al. (1985) The natural history of homocystinuria due to cystathionine beta-synthase deficiency. |
89. |
None (1985) Homocystinuria. Clinical, biochemical and genetic aspects of cystathionine beta-synthase and its deficiency in man. |
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97. |
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98. |
OMIM.ORG article Omim 236200 |
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Orphanet article Orphanet ID 394 |