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DeCS
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Descriptor Inglés:
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Porphyria, Variegate
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Descriptor Español:
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Porfiria Variegata
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Descriptor Portugués:
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Porfiria Variegada
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Sinónimos Inglés:
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Deficiencies, Protoporphyrinogen Oxidase
Porphyria Variegata
Porphyria Variegate
Porphyria Variegates
Ppox Deficiency
Protoporphyrinogen Oxidase Deficiency
Variegate Porphyria
Variegate, Porphyria
Variegates, Porphyria
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Categoría:
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C06.552.830.625
C16.320.850.742.625
C17.800.827.742.625
C18.452.811.400.625
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Definición Inglés:
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An autosomal dominant porphyria that is due to a deficiency of protoporphyrinogen oxidase (EC 1.3.3.4) in the LIVER, the seventh enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include both neurological symptoms and cutaneous lesions. Patients excrete increased levels of porphyrin precursors, COPROPORPHYRINS and protoporphyrinogen. |
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Nota Histórica Inglés:
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2005; use PORPHYRIA, HEPATIC 1993-2004
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Calificadores Permitidos Inglés:
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Número del Registro:
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38625
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Identificador Único:
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D046350
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Ocurrencia en la BVS:
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Similar:
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DeCS
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