Skip to search formSkip to main contentSkip to account menu

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.
Review
2014
Review
2014
Bone defects: molecular and cellular therapeutic targets.
2000
2000
Early prenatal sonographic diagnosis of congenital hypophosphatasia
A pregnant woman of 14 weeks' gestation was sonographically examined due to large‐for‐dates uterine size. The ultrasound… 
2000
2000
Severe hypercalcaemia and respiratory insufficiency associated with infantile hypophosphatasia caused by two novel mutations of the tissue-nonspecific alkaline phosphatase gene
Abstract We report the case of a male patient with infantile hypophosphatasia associated with severe hypercalcaemia and mild… 
1986
1986
Occurrence and appearance of cementum hypoplasias in localized and generalized juvenile periodontitis.
The occurrence and appearance of cementum hypoplasias have been studied on teeth affected by juvenile periodontitis. Scanning… 
1986
1986
Ectopic calcification in hypophosphatasia.
The radiological findings in a 24 year old female with hypophosphatasia included frayed joint surfaces, intra- and peri-articular… 
1985
1985
Early prenatal diagnosis of congenital hypophosphatasia: Case report
Congenital hypophosphatasia is an autosomal recessive disorder, which usually has a fatal outcome during the neonatal period… 
1970
1970
Studies on Alkaline Phosphatase in Hypophosphatasia
Central to an understanding of the pathogenesis of hypophosphatasia is the question of whether or not there is a deficiency of… 
1967
1967
Hypophosphatasia in an adult.
HYPOPHOSHATASIA is a rare, familial disease characterized clinically, by abnormalities of the skeleton and chemically, by low… 
1965
1965
Alkaline phosphatase in neutrophil leukocytes of patients with infectious mononucleosis and the effect of corticosteroid therapy.
A marked increase in the activity of the neutrophil alkaline phosphate enzyme (NLAPA) was observed in bacterial tonsillitis… 
1961
1961
Roseola infantum. Another cause of bulging fontanel.
A bulging fontanel in an infant is generally regarded as a sign of serious central nervous system disease. It may be caused by… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)