Term
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Definition
| a-l-iduronidase: course face corneal clouding, heptosplenomegaly, dysostosis multiplex, mental retardation |
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Term
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Definition
iduronate sulfatase
coarse face, hepatosplenomegally, dysostosis multiplex, mental retardation, behavioral problems |
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Term
|
Definition
Heparan N sulfamidase
All sanfilippo have same clinical features
behavior problems, dysostosis multiplex, mental retardation |
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Term
|
Definition
a-N-acetylglucosamindisase
All sanfilippo have same clinical features
behavior problems, dysostosis multiplex, mental retardation |
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Term
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Definition
Acetyl- CoA: a-glucoseaminide N- acetyltransferase
All sanfilippo have same clinical features
behavior problems, dysostosis multiplex, mental retardation |
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Term
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Definition
Acetyl- CoA: a-glucoseaminide N- acetyltransferase
All sanfilippo have same clinical features
behavior problems, dysostosis multiplex, mental retardation |
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Term
|
Definition
N-acetylglucosamine-6-sulfate
All sanfilippo have same clinical features
behavior problems, dysostosis multiplex, mental retardation |
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Term
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Definition
N-acetylglucosamine-6-sulfate
short stature, bony dysplasia, hearing loss |
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Term
|
Definition
B-glacatosidase
short stature, bony dysplasia, hearing loss |
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Term
|
Definition
aryl sulfatase B
Short stature, corneal clouding, cardiac vaalvular disease, dysostosis multiplex |
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Term
|
Definition
B Glucuronidase
Coarse face, heptasplenomegaly, corneal clouding, dysostosis multiplex |
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