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Significats de infantile hypophosphatasia en anglès

A hypophosphatasia that has material basis in an autosomal recessive mutation of ALPL on chromosome 1p36.12.

Ús de infantile hypophosphatasia en anglès
1
We report the case of a male patient with infantile hypophosphatasia associated with severe hypercalcaemia and mild respiratory insufficiency.
Pubmed
2
We describe the clinical and biochemical findings as well as the molecular analysis of a Korean boy with infantile hypophosphatasia and present a literature review.
Pubmed
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