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Neutrophil alkaline phosphatase (NAP) score in the diagnosis of hypophosphatasia

✍ Scribed by S.J Iqbal; T Davies; R Cole; P Whitaker; C Chapman

Book ID
117074078
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
143 KB
Volume
302
Category
Article
ISSN
0009-8981

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✍ Etienne Mornet; FranΓ§oise Muller; Sandrine Ngo; AgnΓ¨s Taillandier; Brigitte Simo πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 141 KB πŸ‘ 2 views

Prenatal diagnosis of severe hypophosphatasia by mutation analysis of the tissue non-specific alkaline phosphatase (TNSALP) gene is reliable and mostly informative. However, alkaline phosphatase (ALP) assay of CVS may be a useful complementary and independent method, especially when a mutation is un