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Hypophosphatasia

Known as: Hypophosphatasia [Disease/Finding], Hypophosphatasias 
A genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and… Expand
National Institutes of Health

Papers overview

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Review
2016
Review
2016
Hypophosphatasia is the inborn error of metabolism characterized by low serum alkaline phosphatase activity (hypophosphatasaemia… Expand
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Review
2015
Review
2015
Hypophosphatasia (HPP) results from ALPL mutations leading to deficient activity of the tissue-non-specific alkaline phosphatase… Expand
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Highly Cited
2012
Highly Cited
2012
BACKGROUND Hypophosphatasia results from mutations in the gene for the tissue-nonspecific isozyme of alkaline phosphatase (TNSALP… Expand
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Review
2010
Review
2010
  • Michael P Whyte
  • Annals of the New York Academy of Sciences
  • 2010
  • Corpus ID: 7592464
Hypophosphatasia (HPP) is the instructive rickets or osteomalacia caused by loss-of-function mutation(s) within TNSALP, the gene… Expand
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Highly Cited
2008
Highly Cited
2008
INTRODUCTION Hypophosphatasia (HPP) is the inborn error of metabolism that features rickets or osteomalacia caused by loss-of… Expand
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Review
2007
Review
2007
  • Etienne Mornet
  • Orphanet journal of rare diseases
  • 2007
  • Corpus ID: 215521593
Hypophosphatasia is a rare inherited disorder characterized by defective bone and teeth mineralization, and deficiency of serum… Expand
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Highly Cited
2005
Highly Cited
2005
Hypophosphatasia (HPP) often leads to premature loss of deciduous teeth, due to disturbed cementum formation. We addressed the… Expand
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Highly Cited
2002
Highly Cited
2002
Osteoblasts mineralize bone matrix by promoting hydroxyapatite crystal formation and growth in the interior of membrane-limited… Expand
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Highly Cited
1997
Highly Cited
1997
We report the inactivation, via homologous recombination, of two of the three active mouse alkaline phosphatase genes, i.e… Expand
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Highly Cited
1988
Highly Cited
1988
Hypophosphatasia is an inherited disorder characterized by defective bone mineralization and a deficiency of serum and tissue… Expand
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