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… (More)

Topic mentions per year

Topic mentions per year

1948-2017
0204019482016

Papers overview

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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… (More)
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2009
2009
Lateral subtrochanteric femoral pseudofractures occurring in adults with osteomalacia from hypophosphatasia and X-linked… (More)
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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… (More)
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2007
2007
INTRODUCTION Hypophosphatasia (HPP) features low serum alkaline phosphatase (ALP) activity (hypophosphatasemia) due to loss-of… (More)
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2005
2005
Hypophosphatasia (HPP) often leads to premature loss of deciduous teeth, due to disturbed cementum formation. We addressed the… (More)
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2003
2003
An 8-month-old girl who seemed certain to die from the infantile form of hypophosphatasia, an inborn error of metabolism… (More)
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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… (More)
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Highly Cited
1999
Highly Cited
1999
Hypophosphatasia is an inborn error of metabolism characterized by deficient activity of the tissue-nonspecific isoenzyme of… (More)
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1999
1999
Hypophosphatasia, a rare inherited disorder characterized by defective bone mineralization, is highly variable in its clinical… (More)
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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… (More)
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