Enzyme replacement prevents enamel defects in hypophosphatasia mice
نویسندگان
چکیده
منابع مشابه
Enzyme-replacement therapy in life-threatening hypophosphatasia.
BACKGROUND Hypophosphatasia results from mutations in the gene for the tissue-nonspecific isozyme of alkaline phosphatase (TNSALP). Inorganic pyrophosphate accumulates extracellularly, leading to rickets or osteomalacia. Severely affected babies often die from respiratory insufficiency due to progressive chest deformity or have persistent bone disease. There is no approved medical therapy. ENB-...
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OBJECTIVE The lysosomal storage disease alpha-mannosidosis is caused by the deficiency of the lysosomal acid hydrolase alpha-mannosidase (LAMAN) leading to lysosomal accumulation of neutral mannose-linked oligosaccharides throughout the body, including the brain. Clinical findings in alpha-mannosidosis include skeletal malformations, intellectual disabilities and hearing impairment. To date, no...
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Background: Hyper-Immunoglobulin M (IgM) syndrome (HIGM) is a rare primary immunodeficiency in which defective B-cell isotype switching results in a phenotype characterized by elevated or normal serum IgM levels and low levels of other Ig classes, leading to an increased susceptibility to infection, neutropenia, autoimmune disorders, and malignancies. In this disease, a mutation occurs in the C...
متن کاملEnzyme replacement therapy in perinatal hypophosphatasia: Case report of a negative outcome and lessons for clinical practice
Enzyme replacement therapy (ERT) is a newly approved disease-modifying treatment for hypophosphatasia (HPP), a rare metabolic bone disorder. With an orphan drug and ultra-rare disease, sharing information about responders and non-responders is particularly important, as any one centre's familiarity with its use will be limited. Nearly all published data in infants and very young children with l...
متن کاملEnamel defects in children with coeliac disease.
AIM This was to investigate the prevalence of enamel developmental defects in a group of children with a history of coeliac disease. METHODS A study group of children attending the Dept. Paediatrics (Leeds General Infirmary), born between 1985 and 1986 and subsequently diagnosed and treated for coeliac disease (CD) were recruited. A group of age/sex-matched children attending the Paediatric D...
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ژورنال
عنوان ژورنال: Journal of Bone and Mineral Research
سال: 2012
ISSN: 0884-0431
DOI: 10.1002/jbmr.1619