A fluorometric assay using 4-methylumbelliferyl alpha-L-iduronide for the estimation of alpha-L-iduronidase activity and the detection of Hurler and Scheie syndromes.
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Human liver N-acetylglucosamine-6-sulphate sulphatase. Catalytic propertiesHuman α-l-iduronidase uses its own N -glycan as a substrate-binding and catalytic moduleInherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of Lysosomal Storage Disorders.Mucopolysaccharidosis type I: identification of novel mutations that cause Hurler/Scheie syndrome in Chinese families.Urolithiasis and hepatotoxicity are linked to the anion transporter Sat1 in miceInvestigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in BrazilComparison of Endovascular and Intraventricular Gene Therapy With Adeno-Associated Virus-α-L-Iduronidase for Hurler DiseaseSecondary storage of dermatan sulfate in Sanfilippo disease.Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patientsLaronidase-functionalized multiple-wall lipid-core nanocapsules: promising formulation for a more effective treatment of mucopolysaccharidosis type I.Mucopolysaccharidosis type I subtypes. Presence of immunologically cross-reactive material and in vitro enhancement of the residual alpha-L-iduronidase activities.Targeting of the CNS in MPS-IH using a nonviral transferrin-alpha-L-iduronidase fusion gene product.Progressive neurologic and somatic disease in a novel mouse model of human mucopolysaccharidosis type IIIC.Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation.Standardization of α-L-iduronidase enzyme assay with Michaelis-Menten kinetics.Human alpha-L-iduronidase. Catalytic properties and an integrated role in the lysosomal degradation of heparan sulphate.Subcutaneous implantation of microencapsulated cells overexpressing α-L-iduronidase for mucopolysaccharidosis type I treatment.Treatment of MPS I mice with microencapsulated cells overexpressing IDUA: effect of the prednisolone administration.Recombinant encapsulated cells overexpressing alpha-L-iduronidase correct enzyme deficiency in human mucopolysaccharidosis type I cells.Effect of one year of cryopreservation on the activity of lysosomal hydrolases from EBV-transformed lymphocytes.Epstein-Barr virus-induced transformation of B cells for the diagnosis of genetic metabolic disorders--enumerative conditions for cryopreservation.An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life.Human N-acetylgalactosamine-4-sulphate sulphatase. Purification, monoclonal antibody production and native and subunit Mr values.In vitro gene therapy of mucopolysaccharidosis type I by lentiviral vectors.Human alpha-L-iduronidase. 1. Purification, monoclonal antibody production, native and subunit molecular mass.Prenatal Diagnosis of Lysosomal Storage Disorders Using Chorionic Villi.Specific inhibition of human beta-D-glucuronidase and alpha-L-iduronidase by a trihydroxy pipecolic acid of plant origin.Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan.
P2860
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P2860
A fluorometric assay using 4-methylumbelliferyl alpha-L-iduronide for the estimation of alpha-L-iduronidase activity and the detection of Hurler and Scheie syndromes.
description
1979 nî lūn-bûn
@nan
1979年の論文
@ja
1979年論文
@yue
1979年論文
@zh-hant
1979年論文
@zh-hk
1979年論文
@zh-mo
1979年論文
@zh-tw
1979年论文
@wuu
1979年论文
@zh
1979年论文
@zh-cn
name
A fluorometric assay using 4-m ...... f Hurler and Scheie syndromes.
@en
A fluorometric assay using 4-m ...... f Hurler and Scheie syndromes.
@nl
type
label
A fluorometric assay using 4-m ...... f Hurler and Scheie syndromes.
@en
A fluorometric assay using 4-m ...... f Hurler and Scheie syndromes.
@nl
prefLabel
A fluorometric assay using 4-m ...... f Hurler and Scheie syndromes.
@en
A fluorometric assay using 4-m ...... f Hurler and Scheie syndromes.
@nl
P2093
P1433
P1476
A fluorometric assay using 4-m ...... f Hurler and Scheie syndromes.
@en
P2093
P304
P356
10.1016/0009-8981(79)90121-9
P577
1979-03-01T00:00:00Z