Galactosemia is an autosomal recessive disorder galactose catabolism which presents predominantly in the liver (hepatosplenomegaly, jaundice). The renal manifestation is a renotubular Fanconi syndrome.
Proximal tubular damage syndrome | |
Renal manifestation of galactosemia is a renotubular Fanconi syndrome. |
1. |
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22. |
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23. |
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None (2006) Classical galactosaemia revisited. |
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30. |
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38. |
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40. |
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41. |
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42. |
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44. |
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47. |
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49. |
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52. |
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55. |
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56. |
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57. |
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58. |
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59. |
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60. |
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61. |
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62. |
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64. |
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65. |
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66. |
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67. |
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68. |
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69. |
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70. |
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71. |
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73. |
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74. |
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75. |
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76. |
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77. |
None (1967) Clinical variants of galactosemia. |
78. |
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79. |
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81. |
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83. |
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84. |
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85. |
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86. |
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87. |
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88. |
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89. |
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OMIM.ORG article Omim 230400 |
92. |
Orphanet article Orphanet ID 352 |
93. |
Wikipedia article Wikipedia EN (Galactosemia) |