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DeCS
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Descriptor Inglés:
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Refsum Disease, Infantile
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Descriptor Español:
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Enfermedad de Refsum Infantil
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Descriptor Portugués:
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Doença de Refsum Infantil
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Sinónimos Inglés:
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Disease, Infantile Refsum
Disease, Infantile Refsum's
Infantile Form of Phytanic Acid Storage Disease
Infantile Phytanic Acid Storage Disease
Infantile Refsum Disease
Infantile Refsum's Disease
Infantile Refsums Disease
Refsum Disease, Infantile Form
Refsum's Disease, Infantile
Refsums Disease, Infantile
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Categoría:
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C10.228.140.163.100.844
C16.320.565.189.844
C16.320.565.663.865
C18.452.132.100.844
C18.452.648.189.844
C18.452.648.663.865
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Definición Inglés:
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An early onset form of phytanic acid storage disease with clinical and biochemical signs different from those of REFSUM DISEASE. Features include MENTAL RETARDATION; SENSORINEURAL HEARING LOSS; OSTEOPOROSIS; and severe liver damage. It can be caused by mutation in a number of genes encoding proteins involving in the biogenesis or assembly of PEROXISOMES. |
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Nota de Indización Inglés:
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do not confuse with REFSUM DISEASE
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Nota Histórica Inglés:
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2007; use PEROXISOMAL DISORDERS 1996-2006
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Calificadores Permitidos Inglés:
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Número del Registro:
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52110
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Identificador Único:
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D052919
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Ocurrencia en la BVS:
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Similar:
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DeCS
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