2013
DOI: 10.1038/ejhg.2013.177
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Clinical utility gene card for: Hypophosphatasia – update 2013

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Cited by 61 publications
(63 citation statements)
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References 39 publications
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“…Depending on the age when HPP is diagnosed and the severity of disease, five clinical subtypes have been distinguished: perinatal (divided in perinatal lethal and prenatal benign), infantile, childhood, adult and odonto-HPP. 1 Prognosis is very poor in severe forms of HPP with most patients dying from respiratory failure. 2 Recently enzyme replacement therapy (ERT) has been reported to be efficient and improve the outcome in lifethreatening forms of HPP.…”
Section: Introductionmentioning
confidence: 99%
“…Depending on the age when HPP is diagnosed and the severity of disease, five clinical subtypes have been distinguished: perinatal (divided in perinatal lethal and prenatal benign), infantile, childhood, adult and odonto-HPP. 1 Prognosis is very poor in severe forms of HPP with most patients dying from respiratory failure. 2 Recently enzyme replacement therapy (ERT) has been reported to be efficient and improve the outcome in lifethreatening forms of HPP.…”
Section: Introductionmentioning
confidence: 99%
“…El gen tiene una alta heterogeneidad alélica y se han descrito más de 250 mutaciones. La mayoría son mutaciones sin sentido 2,5 .…”
Section: Etiologíaunclassified
“…De forma prenatal se debe tener en cuenta la osteogéne-sis imperfecta tipo II, displasia campomélica y condrodisplasias con defecto de la mineralización ósea que al nacimiento exteriormente son difíciles de identificar pero con las radiografías se logra. En la infancia y la niñez tener en cuenta los errores innatos del metabolismo energético, la acidemia orgánica, el raquitismo, la negligencia y trauma no accidental 5 .…”
Section: Diagnósticounclassified
“…With development of prenatal diagnosis through the use of echography, computed tomography, and genetic diagnosis, perinatal HPP can be correctly diagnosed in the fetus before birth. 48,49 To develop a fetal treatment for perinatal HPP, we previously examined the effect of transuterine intraperitoneal injection of an AAV vector harboring the TNALP-D 10 construct into fetal Akp2 -/-mice on day 15 of gestation. 18 The fetal treatment provided preferential transduction of growth plate chondrocytes by AAV vector in the epiphysis of the treated Akp2 -/-mice.…”
Section: Akp2mentioning
confidence: 99%