Variant of GM2-gangliosidosis with hexosaminidase A having a severely changed substrate specificity
about
Characterization of the Glu and Asp residues in the active site of human beta-hexosaminidase BGM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene mutations in 11 patients from a defined region in PortugalA shortened beta-hexosaminidase alpha-chain in an Italian patient with infantile Tay-Sachs disease.Tay-Sachs disease with hexosaminidase A: characterization of the defective enzyme in two patients.GM2-ganglioside metabolism in hexosaminidase A deficiency states: determination in situ using labeled GM2 added to fibroblast cultures.GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene abnormalities in seven patients.Ganglioside biochemistryMy journey into the world of sphingolipids and sphingolipidoses.Clinical, enzymatic, and molecular characterisation of a Portuguese family with a chronic form of GM2-gangliosidosis B1 variant.Role of beta Arg211 in the active site of human beta-hexosaminidase B.Glucuronate-2-sulphatase activity in cultured human skin fibroblast homogenates.
P2860
Q24602842-6276982A-8BBE-4031-8303-AD79C203EF01Q24678612-C7DD5B52-33E4-4610-BE82-7C23EB2A6B89Q35199088-561986A4-D8B1-4776-BE3E-9E42869E4107Q35199518-E1850358-57B5-42B5-9130-B78E55A22B8EQ35200666-22B61C13-9694-4D4E-A86D-0AC597AAE5BBQ35201361-C9F57FB2-7501-4560-9735-5616476E8B39Q35361488-8A670F0E-A416-4EDB-9C8D-504495AA8F99Q38066410-B6CE552E-9EFE-4D1B-A543-60EE6D682997Q42025687-E890197F-B963-4AC9-831E-90DBB1B2EFBCQ42702108-DCA84D73-5B0D-4702-91DC-AB8A3FABB6B4Q42862916-64C2F9C5-257B-4307-9BF7-A51ECAB74C6D
P2860
Variant of GM2-gangliosidosis with hexosaminidase A having a severely changed substrate specificity
description
1983 nî lūn-bûn
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1983 թուականին հրատարակուած գիտական յօդուած
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1983 թվականին հրատարակված գիտական հոդված
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1983年の論文
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1983年論文
@yue
1983年論文
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1983年論文
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1983年論文
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1983年論文
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1983年论文
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name
Variant of GM2-gangliosidosis ...... changed substrate specificity
@ast
Variant of GM2-gangliosidosis ...... changed substrate specificity
@en
Variant of GM2-gangliosidosis ...... changed substrate specificity
@nl
type
label
Variant of GM2-gangliosidosis ...... changed substrate specificity
@ast
Variant of GM2-gangliosidosis ...... changed substrate specificity
@en
Variant of GM2-gangliosidosis ...... changed substrate specificity
@nl
prefLabel
Variant of GM2-gangliosidosis ...... changed substrate specificity
@ast
Variant of GM2-gangliosidosis ...... changed substrate specificity
@en
Variant of GM2-gangliosidosis ...... changed substrate specificity
@nl
P2093
P2860
P1433
P1476
Variant of GM2-gangliosidosis ...... changed substrate specificity
@en
P2093
P2860
P304
P407
P577
1983-01-01T00:00:00Z