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Revista Cubana de Ortopedia y Traumatología
versão On-line ISSN 1561-3100
Resumo
LUNA CEBALLO, Elsa; DOMINGUEZ PEREZ, María E e ALVAREZ NUNEZ, Rudbeckia. Hypophosphatasia: A case report. Rev Cubana Ortop Traumatol [online]. 2001, vol.15, n.1-2, pp. 87-89. ISSN 1561-3100.
A patient with hypophosphatasia, a rare hereditary disorder of the bone metabolism is presented. Reference is made to its classification and inheritance form. The clinical and radiological characteristics and the clinical laboratory tests that allowed us to make the diagnosis in this case are also described.
Palavras-chave : HYPOPHOSPHATASIA [genetics]; HYPOPHOSPHATASIA [metabolisms]; RADIOGRAPHY [methods]; ALKALINE PHOSPHATASE.