Infantile hypophosphatasia

Common Name(s)

Infantile hypophosphatasia

Hypophosphatasia is an inborn error of metabolism characterized clinically by defective bone mineralization and biochemically by deficient activity of the tissue-nonspecific isoenzyme of alkaline phosphatase. {15:Fraser (1957)} classified forms of hypophosphatasia according to age of onset: perinatal, infantile, childhood ({241510}), and adult ({146300}). {56:Whyte (1988)} indicated a fifth form of hypophosphatasia with primarily only dental manifestations, referred to as odontohypophosphatasia (see {146300}). All of these forms are allelic.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Infantile hypophosphatasia" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Infantile hypophosphatasia" returned 5 free, full-text research articles on human participants. First 3 results:

[Infantile hypophosphatasia].
 

Author(s): F J Caballero Mora, G Á Martos Moreno, E García Esparza, J Argente

Journal: An Pediatr (Barc). 2012 Jun;76(6):368-9.

 

Last Updated: 4 Jun 2012

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Rescue of severe infantile hypophosphatasia mice by AAV-mediated sustained expression of soluble alkaline phosphatase.
 

Author(s): Tae Matsumoto, Koichi Miyake, Seiko Yamamoto, Hideo Orimo, Noriko Miyake, Yuko Odagaki, Kumi Adachi, Osamu Iijima, Sonoko Narisawa, José Luis Millán, Yoshitaka Fukunaga, Takashi Shimada

Journal: Hum. Gene Ther.. 2011 Nov;22(11):1355-64.

 

Hypophosphatasia (HPP) is an inherited disease caused by a deficiency of tissue-nonspecific alkaline phosphatase (TNALP). The major symptom of human HPP is hypomineralization, rickets, or osteomalacia, although the clinical severity is highly variable. The phenotypes of TNALP knockout ...

Last Updated: 23 Nov 2011

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Hyperphosphatemia in infantile hypophosphatasia: implications for carrier diagnosis and screening.
 

Author(s): B N Chodirker, J A Evans, L E Seargeant, M S Cheang, C R Greenberg

Journal: Am. J. Hum. Genet.. 1990 Feb;46(2):280-5.

 

Twenty obligate carriers of infantile hypophosphatasia (HOPS), a severe autosomal recessive metabolic bone disorder, were studied and compared with 36 controls. Decreased serum alkaline phosphatase activity and increased urinary phosphoethanolamine excretion were confirmed in the ...

Last Updated: 12 Mar 1990

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Reviews from the PubMed Database

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The terms "Infantile hypophosphatasia" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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