Six-year clinical outcomes of enzyme replacement therapy for perinatal lethal and infantile hypophosphatasia in Korea: Two case reports
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DOI: 10.1097/md.0000000000032800
Abstract: Introduction: Hypophosphatasia (HPP) is a genetic disease caused by loss-of-function mutations in ALPL, which encodes tissue-nonspecific alkaline phosphatase (ALP). Early diagnosis and treatment of perinatal and infantile HPP are important because of their high mortality… read more here.
Keywords: infantile hpp; replacement therapy; enzyme replacement; infantile ... See more keywords
Bronchoalveolar lavage fluid in an infant with perinatal lethal Gaucher disease
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DOI: 10.1111/ped.13247
Abstract: haemangiomas: insights into the molecular mechanisms of action. Br. J. Dermatol. 2010; 163: 269–74. 4 Chiu YE, Drolet BA, Blei F et al. Variable response to propranolol treatment of kaposiform hemangioendothelioma, tufted angioma, and Kasabach-Merritt… read more here.
Keywords: infant perinatal; perinatal lethal; bronchoalveolar lavage; fluid infant ... See more keywords