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Benign familial hyperphosphatasemia: a report of two families and review of the literature.
Crespo-Peña, M; Torrijos-Eslava, A; Gijón-Baños, J.
Afiliación
  • Crespo-Peña M; Unit of Rheumatology, La Paz University Hospital, Madrid, Spain.
Clin Exp Rheumatol ; 15(4): 425-31, 1997.
Article en En | MEDLINE | ID: mdl-9272306
Benign familial hyperphosphatasemia is a rare biochemical abnormality of hereditary nature, characterized by the presence of persistently elevated levels of serum alkaline phosphatase in several members of the same family, in the absence of disease or any known cause of hyperphosphatasemia. To date, there have been 29 pedigrees reported in the literature. Another two families affected with hyperphosphatasemia, originating in an increase in the bone isoenzyme, are described. The epidemiology, inheritance, isoenzymatic patterns, postulated mechanisms and clinical significance of this entity are discussed.
Asunto(s)
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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastornos del Metabolismo del Fósforo / Salud de la Familia / Fosfatasa Alcalina / Errores Innatos del Metabolismo Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Clin Exp Rheumatol Año: 1997 Tipo del documento: Article País de afiliación: España Pais de publicación: Italia
Buscar en Google
Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastornos del Metabolismo del Fósforo / Salud de la Familia / Fosfatasa Alcalina / Errores Innatos del Metabolismo Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Clin Exp Rheumatol Año: 1997 Tipo del documento: Article País de afiliación: España Pais de publicación: Italia