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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… 
National Institutes of Health

Related topics

Related topics

18 relations

Narrower (5)

Adult hypophosphatasia (disorder)Childhood hypophosphatasia (disorder)Hypophosphatasia, Perinatal LethalInfantile hypophosphatasia
Alkaline PhosphataseDisorder of electrolytesIn BloodMicrobiological

Broader (2)

Inborn Errors of MetabolismPhosphorus Metabolism Disorders

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2012
Highly Cited
2012
“Atypical femoral fractures” during bisphosphonate exposure in adult hypophosphatasia
We report a 55‐year‐old woman who suffered atypical subtrochanteric femoral fractures (ASFFs) after 4 years of exposure to… 
Review
2011
Review
2011
Hypophosphatasia: Nonlethal disease despite skeletal presentation in utero (17 new cases and literature review)
Hypophosphatasia (HPP) is caused by deactivating mutation(s) within the gene that encodes the tissue‐nonspecific isoenzyme of… 
Highly Cited
2009
Highly Cited
2009
Prenatal sonographic diagnosis of skeletal dysplasias
To assess the types and numbers of cases, gestational age at specific prenatal diagnosis and diagnostic accuracy of the diagnosis… 
Highly Cited
2009
Highly Cited
2009
Neurosurgical aspects of childhood hypophosphatasia
ObjectiveHypophosphatasia (HPP; MIM241510) is a rare inborn error of bone metabolism of recessive inheritance. It is caused by… 
Highly Cited
2009
Highly Cited
2009
Orodental phenotype and genotype findings in all subtypes of hypophosphatasia
BackgroundHypophosphatasia (HP) is a rare inherited disorder characterized by a wide spectrum of defects in mineralized tissues… 
Highly Cited
2001
Highly Cited
2001
A molecular approach to dominance in hypophosphatasia
Abstract. Hypophosphatasia is an inherited disorder characterized by defective bone mineralization and a deficiency of tissue… 
Highly Cited
1999
Highly Cited
1999
Correlations of genotype and phenotype in hypophosphatasia.
Hypophosphatasia, a rare inherited disorder characterized by defective bone mineralization, is highly variable in its clinical… 
Highly Cited
1992
Highly Cited
1992
Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia.
Hypophosphatasia is a heritable form of rickets/osteomalacia with extremely variable clinical expression. Severe forms are… 
Review
1992
Review
1992
Diseases associated with calcium pyrophosphate deposition disease.
Highly Cited
1985
Highly Cited
1985
Markedly increased circulating pyridoxal-5'-phosphate levels in hypophosphatasia. Alkaline phosphatase acts in vitamin B6 metabolism.
Markedly increased circulating concentrations of pyridoxal-5'-phosphate (PLP) were found in each of 14 patients representing all… 
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