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Inorganic pyrophosphate disrupts amorphous hydrated bone mineral interfaces in hypophosphatasia

open access: yes
Dillon S   +10 more
europepmc   +1 more source

Enzyme-Replacement Therapy in Life-Threatening Hypophosphatasia [PDF]

open access: yesNew England Journal of Medicine, 2012
Nicholas J Bishop   +2 more
exaly   +3 more sources
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Hypophosphatasia

Current Osteoporosis Reports, 2016
Hypophosphatasia is a rare disorder due to a mutation in the ALPL gene encoding the alkaline phosphatase (ALP) leading to a diminished activity of the enzyme in bone, liver, and kidney. Hypophosphatasia is a heterogeneous disease, ranging from extreme life-threatening forms revealed at birth in young infants presenting with severely impaired bone ...
Agnès Linglart
exaly   +4 more sources

HYPOPHOSPHATASIA

Journal of the American Medical Association, 1958
1. A case of hypophosphatasia in a boy who sustained a fractured left femur is described. 2. The literature is reviewed, and the reported cases are found to fall into severe, moderately severe and mild forms. 3. The diagnostic features of the disease are the radiological picture, which resembles that of rickets, very low serum alkaline phosphatase ...
W, DICKSON, R H, HORROCKS
  +6 more sources

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