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I-Cell Disease with GNPTAB Gene Mutation
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نویسنده
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ramesh bhat.y ,susmitha tangirala ,leslie lewis ,jayashree purkayastha
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منبع
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journal of pediatric perspectives - 2017 - دوره : 5 - شماره : 12 - صفحه:6261 -6265
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چکیده
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Inclusion-cell (i-cell) disease (mucolipidosis ii) is a rare inherited metabolic disorder resulting from a defective phosphotransferase, characterized by coarse facial features, skeletal abnormalities and mental retardation. as clinical feature of this condition mimic that of hurler disease mutation studies help in the diagnosis. we present a case of i-cell disease in a neonate with n-acetylglucosamine-1-phosphate transferase alpha and beta subunits (gnptab) gene mutation.
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کلیدواژه
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Skeletal anomalies ,Mucolipidosis ,Mutation ,Neonate
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آدرس
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manipal university, kasturba medical college, department of pediatrics, India, manipal university, kasturba medical college hospital, department of paediatrics, India, manipal university, kasturba medical college hospital, department of paediatrics, India, manipal university, kasturba medical college hospital, department of paediatrics, India
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Authors
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