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Did you mean: (aldolase alfa)?
(asfotase alfa)
72 results
  • Alkaline Phosphatase Replacement Therapy for Hypophosphatasia in Development and Practice. [Review]
    Adv Exp Med Biol 2019; 1148:279-322Bowden SA, Foster BL
  • Hypophosphatasia (HPP) is an inherited disorder that affects bone and tooth mineralization characterized by low serum alkaline phosphatase. HPP is caused by loss-of-function mutations in the ALPL gene encoding the protein, tissue-nonspecific alkaline phosphatase (TNSALP). TNSALP is expressed by mineralizing cells of the skeleton and dentition and is associated with the mineralization process. Gen…
  • Alkaline Phosphatase Replacement Therapy. [Review]
    Adv Exp Med Biol 2019; 1148:201-232Bianchi ML, Vai S
  • Hypophosphatasia (HPP) is a rare genetic disease, characterized by the defective production of tissue-non-specific alkaline phosphatase (TNSALP). 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…
  • Quality Control and Downstream Processing of Therapeutic Enzymes. [Review]
    Adv Exp Med Biol 2019; 1148:55-80Gervais D
  • Therapeutic enzymes are a commercially minor but clinically important area of biopharmaceuticals. An array of therapeutic enzymes has been developed for a variety of human diseases, including leukaemia and enzyme-deficiency diseases such as Gaucher's disease. Production and testing of therapeutic enzymes is strictly governed by regulatory bodies in each country around the world, and batch-to-batc…
  • Update on the management of hypophosphatasia. [Review]
    Ther Adv Musculoskelet Dis 2019; 11:1759720X19863997Choida V, Bubbear JS
  • Hypophosphatasia is a rare inherited disease caused by a loss of function mutations in the gene that codes for the tissue-nonspecific alkaline phosphatase enzyme. It is autosomally inherited and at least 388 different genetic defects have been identified. The clinical presentation is variable from a severe perinatal form, that is fatal if untreated, to adult-onset disease. This review covers the …
  • Reliability and Validity of the 6-Minute Walk Test in Hypophosphatasia. [Journal Article]
    JBMR Plus 2019; 3(6):e10131Phillips D, Tomazos IC, … Lerma Lara S
  • This investigation evaluated the reliability and validity of the 6-Minute Walk Test (6MWT) in patients with pediatric hypophosphatasia (HPP). Children (aged 6 to 12 years; n = 11), adolescents (13 to 17 years; n = 4), and adults (18 to 65 years; n = 9) completed the 6MWT at screening and baseline in two clinical studies of asfotase alfa. Test-retest reliability of the 6MWT, evaluated with Pearson…
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