Term
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Definition
-Autosomal recessive
-skeletal abnormalities and mental retardation -dwarfism, corneal clouding, hepatosplenomegaly, valvular heart disease
-accumulate heparan sulfate and dermatan sulfate -complete deficiency in α-L-Iduronidase
-death occurs usually by age 10 |
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Term
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Definition
-X-linked
-skeletal abnormalities and mental retardation
-accumulate heparan sulfate and dermatan sulfate
-complete deficiency in Iduronidase sufatase
-death occurs usually by age 10 |
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Term
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Definition
-Autosomal recessive
-accumulation of heparan sulfate
-minor physical effects, but severe mental retardation
-deficiency in heparan-N-sulfatase |
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Term
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Definition
-Autosomal recessive
-accumulation of heparan sulfate
-minor physical effects, but severe mental retardation
-deficiency in α-N-acetyl-glucosaminidase |
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Term
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Definition
-Autosomal recessive
-accumulation of heparan sulfate
-minor physical effects, but severe mental retardation
-deficiency in acetyl-CoA, α-glucosaminide acyltransferase |
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Term
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Definition
-Autosomal recessive
-accumulation of heparan sulfate
-minor physical effects, but severe mental retardation
-deficiency in N-acetylglucosamine 6-sulfatase |
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