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DeCS
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Descriptor Inglés:
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Protoporphyria, Erythropoietic
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Descriptor Español:
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Protoporfiria Eritropoyética
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Descriptor Portugués:
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Protoporfiria Eritropoética
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Sinónimos Inglés:
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Deficiencies, Ferrochelatase
Deficiencies, Heme Synthetase
Deficiency, Ferrochelatase
Deficiency, Heme Synthetase
Erythrohepatic Protoporphyria
Erythropoietic Protoporphyria
Erythropoietic Protoporphyrias
Ferrochelatase Deficiencies
Ferrochelatase Deficiency
Heme Synthetase Deficiencies
Heme Synthetase Deficiency
Protoporphyrias, Erythropoietic
Synthetase Deficiencies, Heme
Synthetase Deficiency, Heme
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Categoría:
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C06.552.830.812
C16.320.850.742.812
C17.800.827.742.812
C18.452.811.400.812
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Definición Inglés:
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An autosomal dominant porphyria that is due to a deficiency of FERROCHELATASE (heme synthetase) in both the LIVER and the BONE MARROW, the last enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include mainly neurological symptoms, rarely cutaneous lesions, and elevated levels of protoporphyrin and COPROPORPHYRINS in the feces. |
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Nota de Indización Inglés:
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do not confuse with PORPHYRIA, ERYTHROPOIETIC
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Relacionados Inglés:
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Ferrochelatase
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Nota Histórica Inglés:
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2005; use PORPHYRIA, ERYTHROHEPATIC 1993-2004
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Calificadores Permitidos Inglés:
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Número del Registro:
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38626
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Identificador Único:
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D046351
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Ocurrencia en la BVS:
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Similar:
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DeCS
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