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Klassische Homocysteinurie

Die klassische Homocysteinurie ist eine autosomal rezessive Erkrankung die auf einem Mangel an Cystathionin beta-Synthase beruht, die vom CBS-Gen kodiert wird.

Gliederung

Störungen des Cobalaminstoffwechsels
Homozysteinurie und megaloblastäre Anämie cblE
Homozysteinurie und megaloblastäre Anämie cblG
Klassische Homocysteinurie
CBS
Methylmalonazidurie Typ mut
Methylmalonazidurie cblA
Methylmalonazidurie cblB
Methylmalonazidurie mit Homozysteinurie cblC
Methylmalonazidurie mit Homozysteinurie cblD
Methylmalonazidurie mit Homozysteinurie cblF
Methylmalonazidurie mit Homozysteinurie cblJ

Referenzen:

1.

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2.

Bass HN et al. (1997) Spontaneous pneumothorax in association with pyridoxine-responsive homocystinuria.

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3.

Lubec B et al. (1996) Evidence for McKusick's hypothesis of deficient collagen cross-linking in patients with homocystinuria.

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4.

Mandel H et al. (1996) Coexistence of hereditary homocystinuria and factor V Leiden--effect on thrombosis.

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5.

None (1996) Nutritional ecogenetics: homocysteine-related arteriosclerotic vascular disease, neural tube defects, and folic acid.

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6.

Di Minno G et al. (1993) Abnormally high thromboxane biosynthesis in homozygous homocystinuria. Evidence for platelet involvement and probucol-sensitive mechanism.

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7.

Malinow MR et al. (1994) Role of plasma homocyst(e)ine in arterial occlusive diseases.

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9.

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10.

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11.

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12.

Mudd SH et al. (1981) A study of cardiovascular risk in heterozygotes for homocystinuria.

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13.

Skovby F et al. (1982) Immunochemical studies on cultured fibroblasts from patients with homocystinuria due to cystathionine beta-synthase deficiency.

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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 (1968) Activation of Hageman factor by L-homocystine.

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31.

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38.

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39.

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40.

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41.

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42.

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43.

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44.

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45.

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51.

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54.

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55.

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56.

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62.

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70.

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71.

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72.

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73.

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76.

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77.

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79.

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81.

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82.

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83.

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84.

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85.

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86.

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90.

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96.

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97.

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OMIM.ORG article

Omim 236200 external link
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Orphanet article

Orphanet ID 394 external link
Update: 14. August 2020
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