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- W4200020356 endingPage "5676" @default.
- W4200020356 startingPage "5676" @default.
- W4200020356 abstract "Hypophosphatasia (HPP) is an inherited metabolic disease caused by loss-of-function mutations in the tissue non-specific alkaline phosphatase (TNAP) gene. Reduced activity of TNAP leads to the accumulation of its substrates, mainly inorganic pyrophosphate and pyridoxal-5'-phosphate, metabolic aberrations that largely explain the musculoskeletal and systemic features of the disease. More than 400 ALPL mutations, mostly missense, are reported to date, transmitted by either autosomal dominant or recessive mode. Severe disease is rare, with incidence ranging from 1:100,000 to 1:300,000 live births, while the estimated prevalence of the less severe adult form is estimated to be between 1:3100 to 1:508, in different countries in Europe. Presentation largely varies, ranging from death in utero to asymptomatic adults. In infants and children, clinical features include skeletal, respiratory and neurologic complications, while recurrent, poorly healing fractures, muscle weakness and arthropathy are common in adults. Persistently low serum alkaline phosphatase is the cardinal biochemical feature of the disease. Management requires a dedicated multidisciplinary team. In mild cases, treatment is usually symptomatic. Severe cases, with life-threating or debilitating complications, can be successfully treated with enzyme replacement therapy with asfotase alfa." @default.
- W4200020356 created "2021-12-31" @default.
- W4200020356 creator A5024211127 @default.
- W4200020356 creator A5045916850 @default.
- W4200020356 creator A5081592896 @default.
- W4200020356 creator A5059715396 @default.
- W4200020356 date "2021-12-01" @default.
- W4200020356 modified "2023-10-14" @default.
- W4200020356 title "Hypophosphatasia" @default.
- W4200020356 cites W1557477329 @default.
- W4200020356 cites W1797557774 @default.
- W4200020356 cites W1810382110 @default.
- W4200020356 cites W1915920625 @default.
- W4200020356 cites W1968552449 @default.
- W4200020356 cites W1986127266 @default.
- W4200020356 cites W1987322136 @default.
- W4200020356 cites W1993776289 @default.
- W4200020356 cites W1995201708 @default.
- W4200020356 cites W1997309513 @default.
- W4200020356 cites W2004126267 @default.
- W4200020356 cites W2004980655 @default.
- W4200020356 cites W2012109769 @default.
- W4200020356 cites W2023155405 @default.
- W4200020356 cites W2025046506 @default.
- W4200020356 cites W2030748265 @default.
- W4200020356 cites W2032152736 @default.
- W4200020356 cites W2033636243 @default.
- W4200020356 cites W2042977564 @default.
- W4200020356 cites W2049522965 @default.
- W4200020356 cites W2050045002 @default.
- W4200020356 cites W2052452060 @default.
- W4200020356 cites W2054740989 @default.
- W4200020356 cites W2081005339 @default.
- W4200020356 cites W2082446278 @default.
- W4200020356 cites W2083367404 @default.
- W4200020356 cites W2096126850 @default.
- W4200020356 cites W2107554167 @default.
- W4200020356 cites W2113040555 @default.
- W4200020356 cites W2115950608 @default.
- W4200020356 cites W2117597847 @default.
- W4200020356 cites W2118731806 @default.
- W4200020356 cites W2141225628 @default.
- W4200020356 cites W2144827667 @default.
- W4200020356 cites W2150512825 @default.
- W4200020356 cites W2162401052 @default.
- W4200020356 cites W2164446320 @default.
- W4200020356 cites W2169196920 @default.
- W4200020356 cites W2172461241 @default.
- W4200020356 cites W2280954766 @default.
- W4200020356 cites W2304068939 @default.
- W4200020356 cites W2339673079 @default.
- W4200020356 cites W2437385547 @default.
- W4200020356 cites W2513922842 @default.
- W4200020356 cites W2571984638 @default.
- W4200020356 cites W2582923639 @default.
- W4200020356 cites W2590715635 @default.
- W4200020356 cites W2605206815 @default.
- W4200020356 cites W2605433409 @default.
- W4200020356 cites W2606175043 @default.
- W4200020356 cites W2619913215 @default.
- W4200020356 cites W2738193737 @default.
- W4200020356 cites W2739051205 @default.
- W4200020356 cites W2749121541 @default.
- W4200020356 cites W2767038457 @default.
- W4200020356 cites W2768041290 @default.
- W4200020356 cites W2791096355 @default.
- W4200020356 cites W2791458292 @default.
- W4200020356 cites W2792379313 @default.
- W4200020356 cites W2796669847 @default.
- W4200020356 cites W2801463953 @default.
- W4200020356 cites W2809025843 @default.
- W4200020356 cites W2810970931 @default.
- W4200020356 cites W2884205147 @default.
- W4200020356 cites W2887710037 @default.
- W4200020356 cites W2890194732 @default.
- W4200020356 cites W2890457058 @default.
- W4200020356 cites W2903489231 @default.
- W4200020356 cites W2904850670 @default.
- W4200020356 cites W2905259247 @default.
- W4200020356 cites W2911788112 @default.
- W4200020356 cites W2912214881 @default.
- W4200020356 cites W2916772411 @default.
- W4200020356 cites W2924216372 @default.
- W4200020356 cites W2924411106 @default.
- W4200020356 cites W2935819894 @default.
- W4200020356 cites W2939487531 @default.
- W4200020356 cites W2946902461 @default.
- W4200020356 cites W2954362511 @default.
- W4200020356 cites W2968572854 @default.
- W4200020356 cites W2983350831 @default.
- W4200020356 cites W2991363530 @default.
- W4200020356 cites W3003500078 @default.
- W4200020356 cites W3008134096 @default.
- W4200020356 cites W3011905850 @default.
- W4200020356 cites W3025772018 @default.
- W4200020356 cites W3041573549 @default.
- W4200020356 cites W3041703126 @default.
- W4200020356 cites W3043218918 @default.