Zobrazeno 1 - 10
of 56
pro vyhledávání: '"Childhood hypophosphatasia"'
Publikováno v:
Journal of Pediatric Research, Vol 9, Iss 2, Pp 192-196 (2022)
Childhood hypophosphatasia (HPP) presents with bowing of the limbs, poor mobility, chronic pain, short stature, fractures, and motor impairment. Enzyme replacement therapy (ERT) provides improved pulmonary and physical function in life-threatening pe
Externí odkaz:
https://doaj.org/article/faa57fa9ad994883aaf9de2443523dfc
Publikováno v:
JIMD Reports, Vol 59, Iss 1, Pp 10-15 (2021)
Abstract Hypophosphatasia (HPP) is a rare inherited metabolic disorder characterized by deficient activity of alkaline phosphatase, causing defective mineralization of bones and teeth. The symptoms vary from no symptoms to stillbirth or skeletal mani
Externí odkaz:
https://doaj.org/article/31070a4fa3a24d09ab5ad48e0225c9e3
Akademický článek
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Publikováno v:
Pediatric Dental Journal. 31:117-122
Hypophosphatasia (HPP) is an inherited skeletal disorder that features early exfoliation of primary teeth as a major dental manifestation. A 6Y4M Japanese girl diagnosed with childhood HPP came to our clinic. Deep probing depth for all teeth and seve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8f3071c12bcae5288b802aee1485ae74
https://doi.org/10.1016/j.pdj.2021.01.004
https://doi.org/10.1016/j.pdj.2021.01.004
Publikováno v:
JIMD Reports
Strandbech, O S, Lund, A & Ostergaard, E 2021, ' Excellent response to asfotase alfa treatment in an adolescent patient with hypophosphatasia ', JIMD Reports, vol. 59, no. 1, pp. 10-15 . https://doi.org/10.1002/jmd2.12198
JIMD Reports, Vol 59, Iss 1, Pp 10-15 (2021)
Strandbech, O S, Lund, A & Ostergaard, E 2021, ' Excellent response to asfotase alfa treatment in an adolescent patient with hypophosphatasia ', JIMD Reports, vol. 59, no. 1, pp. 10-15 . https://doi.org/10.1002/jmd2.12198
JIMD Reports, Vol 59, Iss 1, Pp 10-15 (2021)
Hypophosphatasia (HPP) is a rare inherited metabolic disorder characterized by deficient activity of alkaline phosphatase, causing defective mineralization of bones and teeth. The symptoms vary from no symptoms to stillbirth or skeletal manifestation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66062c70b00dd99705da881c1f4194ef
http://europepmc.org/articles/PMC8100395
http://europepmc.org/articles/PMC8100395
Akademický článek
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Autor:
Maria Veronica Forclaz, Silvia D’Amato, Eduardo Moratto, Maria Gabriela Benzrihen, Patricia Rodriguez
Publikováno v:
Journal of the Endocrine Society
Introduction: Hypophosphatasia (HPP) is a rare inherited metabolic bone disorder, caused by loss-of-function mutations within the gene that encodes the tissue nonspecific alkaline phosphatase (TNSALP). Extracellular accumulation of TNSALP natural sub
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b54187cd7c0bede2f3236786addbf359
http://europepmc.org/articles/PMC6553031
http://europepmc.org/articles/PMC6553031
Autor:
Ghufran Babar
Publikováno v:
Journal of the Endocrine Society
Hypophosphatasia is associated with defective mineralization of bone with possible teeth involvement with low activity of serum and bone alkaline phosphatase. It is caused by a mutations in the TNSALP gene. It is usually life-threatening when it pres
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cffa4bc6a5c497282d144280ada704d
http://europepmc.org/articles/PMC6551105
http://europepmc.org/articles/PMC6551105
Kniha
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Publikováno v:
Anales de Pediatría, Vol 88, Iss 6, Pp 356.e1-356.e11 (2018)
Resumen: La hipofosfatasia es una enfermedad ultra-rara del metabolismo mineral óseo causada por un déficit de actividad de la fosfatasa alcalina, debido a la existencia de mutaciones en el gen ALPL. Clínicamente, se caracteriza por el desarrollo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed407fed718941a76e0d7a2f1a6e7e51
http://www.sciencedirect.com/science/article/pii/S1695403317302230
http://www.sciencedirect.com/science/article/pii/S1695403317302230