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Hypophosphatasia.
Fenn JS, Lorde N, Ward JM, Borovickova I. Fenn JS, et al. J Clin Pathol. 2021 Oct;74(10):635-640. doi: 10.1136/jclinpath-2021-207426. Epub 2021 Apr 30. J Clin Pathol. 2021. PMID: 33931563 Review.
A classification based on the age at diagnosis and the presence or absence of bone symptoms was historically used: perinatal, prenatal benign, infantile, childhood, adult and odontohypophosphatasia. These subtypes are known to have overlapping signs and complications. ...
A classification based on the age at diagnosis and the presence or absence of bone symptoms was historically used: perinatal, prenatal benig …
Hypophosphatasia.
Mornet E. Mornet E. Orphanet J Rare Dis. 2007 Oct 4;2:40. doi: 10.1186/1750-1172-2-40. Orphanet J Rare Dis. 2007. PMID: 17916236 Free PMC article. Review.
Depending on the age at diagnosis, six clinical forms are currently recognized: perinatal (lethal), perinatal benign, infantile, childhood, adult and odontohypophosphatasia. In the lethal perinatal form, the patients show markedly impaired mineralization in utero. ...The c …
Depending on the age at diagnosis, six clinical forms are currently recognized: perinatal (lethal), perinatal benign, infantile, childhood, …
Alkaline Phosphatase Replacement Therapy.
Bianchi ML, Vai S. Bianchi ML, et al. Adv Exp Med Biol. 2019;1148:201-232. doi: 10.1007/978-981-13-7709-9_10. Adv Exp Med Biol. 2019. PMID: 31482501 Review.
Six subtypes of the disease - affecting neonates (beginning in utero), infants, children, or adults - are recognized: perinatal lethal, prenatal benign, infantile, childhood, adult, and odontohypophosphatasia. The clinical presentation of these subtypes is very different a …
Six subtypes of the disease - affecting neonates (beginning in utero), infants, children, or adults - are recognized: perinatal lethal, pren …
Hypophosphatasia: an overview of the disease and its treatment.
Bianchi ML. Bianchi ML. Osteoporos Int. 2015 Dec;26(12):2743-57. doi: 10.1007/s00198-015-3272-1. Epub 2015 Aug 6. Osteoporos Int. 2015. PMID: 26245849 Review.
Then, it presents the epidemiology, classification, and clinical presentation of the six different forms of the disease (perinatal lethal, prenatal benign, infantile, childhood, adult, and odontohypophosphatasia) as well as the essential diagnostic clues. The last section …
Then, it presents the epidemiology, classification, and clinical presentation of the six different forms of the disease (perinatal lethal, p …
Hypophosphatasia: oral cavity and dental disorders.
Bloch-Zupan A, Vaysse F. Bloch-Zupan A, et al. Arch Pediatr. 2017 May;24(5S2):5S80-5S84. doi: 10.1016/S0929-693X(18)30020-4. Arch Pediatr. 2017. PMID: 29405938 Review.
Dental anomalies exist in every subtype of hypophosphatasia (HPP), from the most severe to the most moderate, called odontohypophosphatasia. The forms are defined by the age at onset of the initial symptoms. ...
Dental anomalies exist in every subtype of hypophosphatasia (HPP), from the most severe to the most moderate, called odontohypophosphatas …
Clinical Forms and Animal Models of Hypophosphatasia.
Salles JP. Salles JP. Subcell Biochem. 2015;76:3-24. doi: 10.1007/978-94-017-7197-9_1. Subcell Biochem. 2015. PMID: 26219704 Review.
Dental manifestations with early loss of teeth are usual in HPP and in a specific form, odontohypophosphatasia. HPP has been studied in knock-out mice models which mimic its severe form. ...
Dental manifestations with early loss of teeth are usual in HPP and in a specific form, odontohypophosphatasia. HPP has been studied …
[Hypophosphatasia: Clinical manifestations, diagnostic recommendations and therapeutic options].
Martos-Moreno GA, Calzada J, Couce ML, Argente J. Martos-Moreno GA, et al. An Pediatr (Engl Ed). 2018 Jun;88(6):356.e1-356.e11. doi: 10.1016/j.anpedi.2017.06.004. Epub 2017 Jul 16. An Pediatr (Engl Ed). 2018. PMID: 28720214 Review. Spanish.
Its phenotypic spectrum is widely variable from a subtype with exclusive odontological impairment (odontohypophosphatasia) to five subtypes with systemic involvement, classified according to the age at the onset of the first symptoms (four of them in the paediatric age ran …
Its phenotypic spectrum is widely variable from a subtype with exclusive odontological impairment (odontohypophosphatasia) to five su …
Current concepts in hypophosphatasia: case report and literature review.
Hollis A, Arundel P, High A, Balmer R. Hollis A, et al. Int J Paediatr Dent. 2013 May;23(3):153-9. doi: 10.1111/j.1365-263X.2012.01239.x. Epub 2012 Jun 4. Int J Paediatr Dent. 2013. PMID: 22672232 Review.
There are generally six recognized clinical forms, of which the most severe is often lethal prenatally or early in life. In milder forms, such as odontohypophosphatasia (OHP), premature exfoliation of primary teeth may be the only clinical manifestation. ...After 10 months …
There are generally six recognized clinical forms, of which the most severe is often lethal prenatally or early in life. In milder forms, su …
Hypophosphatasia in an adult: a case report.
Nangaku M, Sato N, Sugano K, Takaku F. Nangaku M, et al. Jpn J Med. 1991 Jan-Feb;30(1):47-52. doi: 10.2169/internalmedicine1962.30.47. Jpn J Med. 1991. PMID: 1865578 Free article. Review.
Severe dental caries was the sole clinical manifestation, indicating this case as an "odontohypophosphatasia". The levels of serum osteocalcin were low, which may be a useful biochemical marker to diagnose hypophosphatasia. ...
Severe dental caries was the sole clinical manifestation, indicating this case as an "odontohypophosphatasia". The levels of serum os …