Sanfilippo syndrome: profound deficiency of alpha-acetylglucosaminidase activity in organs and skin fibroblasts from type-B patients
about
Sanfilippo syndrome type C: deficiency of acetyl-CoA:alpha-glucosaminide N-acetyltransferase in skin fibroblastsSanfilippo syndrome: causes, consequences, and treatmentsA rapid and sensitive method for measuring N-acetylglucosaminidase activity in cultured cellsSanfilippo A disease in the fetus.The mucopolysaccharidoses.Replacement therapy in the mucopolysaccharidosesGenetic heterogeneity in inherited disease.Mucopolysaccharidoses and mucolipidoses.Synthesis and degradation of hyaluronic acid in the cultured fibroblasts of Marfan's diseaseThe defect in the Hunter syndrome: deficiency of sulfoiduronate sulfatase.Biosynthesis and maturation of alpha-N-acetylglucosaminidase in normal and Sanfilippo B-fibroblasts.A review and selection of simple laboratory methods used for the study of glycosaminoglycan excretion and the diagnosis of the mucopolysaccharidoses.The mucopolysaccharidoses (a review).Experimental animal model for mucopolysaccharidosis: suramin-induced glycosaminoglycan and sphingolipid accumulation in the rat.Sanfilippo disease type D: deficiency of N-acetylglucosamine-6-sulfate sulfatase required for heparan sulfate degradation.Mucopolysaccharides synthesized by cultured glial cells derived from a patient with Sanfilippo A syndrome.Quantitative aspects of pinocytosis and the intracellular fate of N-acetyl-alpha-D-glucosaminidase in Sanfilippo B fibroblastsSanfilippo A syndrome: sulfamidase deficiency in cultured skin fibroblasts and liver.NN'-diacetylchitobiase activity in Tay-Sachs disease and Sandhoff's disease.Hyperactive behaviour in the mouse model of mucopolysaccharidosis IIIB in the open field and home cage environments.Human N-acetyl-beta-hexosaminidases: hydrolysis of N, N' diacetylchitobiose by a low molecular weight enzyme.Ensemble variant interpretation methods to predict enzyme activity and assign pathogenicity in the CAGI4 NAGLU (Human N-acetyl-glucosaminidase) and UBE2I (Human SUMO-ligase) challenges.Ultrastructural and biochemical aspects of the Sanfilippo syndrome,--type III genetic mucopolysaccharidosis.Increased incorporation of precursors into rat brain ribonucleic acids after treatment with a nonionic detergent in vivo.Forssman hapten N-acetyl-alpha-D-galactosaminidase in rat brain and kidney.Urinary Excretion of Disulfated Disaccharides in Hunter Syndrome: Correction by Infusion of a Serum Fraction
P2860
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P2860
Sanfilippo syndrome: profound deficiency of alpha-acetylglucosaminidase activity in organs and skin fibroblasts from type-B patients
description
1972 nî lūn-bûn
@nan
1972 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1972 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1972年の論文
@ja
1972年論文
@yue
1972年論文
@zh-hant
1972年論文
@zh-hk
1972年論文
@zh-mo
1972年論文
@zh-tw
1972年论文
@wuu
name
Sanfilippo syndrome: profound ...... broblasts from type-B patients
@ast
Sanfilippo syndrome: profound ...... broblasts from type-B patients
@en
Sanfilippo syndrome: profound ...... broblasts from type-B patients
@nl
type
label
Sanfilippo syndrome: profound ...... broblasts from type-B patients
@ast
Sanfilippo syndrome: profound ...... broblasts from type-B patients
@en
Sanfilippo syndrome: profound ...... broblasts from type-B patients
@nl
prefLabel
Sanfilippo syndrome: profound ...... broblasts from type-B patients
@ast
Sanfilippo syndrome: profound ...... broblasts from type-B patients
@en
Sanfilippo syndrome: profound ...... broblasts from type-B patients
@nl
P2860
P356
P1476
Sanfilippo syndrome: profound ...... broblasts from type-B patients
@en
P2093
O'Brien JS
P2860
P304
P356
10.1073/PNAS.69.7.1720
P407
P577
1972-07-01T00:00:00Z